The information in these stories is provided as supplied by the authors. Any thoughts, ideas or methods contained therein, are those of the author, and are not necessarily shared by SAKKS.
SAKKS does not invite reliance upon, nor accept responsibility for, the information it provides. SAKKS makes every effort to provide a high quality service. However, SAKKS does not give any guarantees or undertakings concerning the accuracy, completeness or up-to-date nature of the information provided. Readers should confirm information from another source if it is of sufficient importance for them to do so.
I could write a novel on our past five years.. but for the moment I will condense it..
Josie is our fourth child, we have three other wonderful children, lucy, luke, lilly and (ran out of L names) Josie... we had our 18wk scan on josie and was informed that josie had many problems and it might be best to terminate... You must be joking was our first reponse, I had just seen my beautiful baby on the moniter waving at me... this child was staying with me!!!! we chose not to have an amneo and just prepared that Josie was a downs baby..
At 36 wks I was induced as Josie was not moving and her heart was struggling, I was in labour waiting to see what this child was going to look like, will she have five fingers and toes, etc..She was born blue and could not move her legs... they got her going and she picked up.. then hours after birth was having ultrasounds... Josie had literally no hips, heart probs and a horseshoe kidney...
We were still being told josie had downs syndrome, and admittedly she looked like one.. then we had to fly to Melb.. for heart surgery, they then took bloods and told us that she did not have downs... she may have turners syndrome, digeorge syndrome, or noonans... finally Kabuki Syndrome..at last we had an answer that best suited Josie..
Josie is know five and has had 13 surgeries... most of which are done in melb and as we live in Tasmania, things have been hard.. each surgery our family is torn apart and the emotional and financial strain is huge... but it is the end results that make it all worth it...
Josie has had heart surgery for coartation of the aorta, she also has bicuspid aortic valve, two lots of hip surgery, two lots of knee surgery, many oral surgeries, eye surgery, and many tests... she has a very low immune system and picks up every bug...
Our current issues is her kidneys, immune systems and behavoiur..
Josie attends mainstream school and special school it is a great combination and works well for her. I have missed out soooooo many of the emotional issues, but I am sure you get the jist of it all...
If anyone would like to talk about Josies story please feel free to contact me anytime..
Thanks for reading our gorgegous girls story.
By Steve and Melasande
I guess our first year of life with little James was a series of what we saw as only ‘coincidences’ of just small little issues. First he was in a harness, then a hip spica, some feeding problems, lots of physio and delayed milestones…..but it wasn’t until just after his first birthday that we were advised to see a Geneticist.
Why would we need to do that we thought! Our Geneticist was very kind man who was quite certain at our first meeting that James was a Kabuki baby, with characteristics including hypotonia, high arched palate, distinctive facial features, finger pads and developmental delay.
So like probably everyone else reading this, we left that appointment, completely shattered, felt sorry for ourselves and more for little James, went home and cried for a month ………… then after the initial shock wore off we realized that being diagnosed with a ‘syndrome’ doesn’t really change anything.
We are blessed to have such a beautiful little boy, who is just so full of life, so loved and friendly toeveryone he comes across; he is the one that brings joy to others. Life is just the same as it was prediagnosis, and that we just need to concentrate on his abilities as opposed to any ‘disability’ and welcome all the therapy and early intervention that we have available. We decided that if we stay down in the dumps and treating James “different’ that it’s not really helping any of us. Especially James.
James now enjoys a mixture of activities such as music classes, Montessori, and also some special needs activities such as our communication group, physio, speech therapy and early learning programme.
Yes he is a very busy little fellow! But one of his most beautiful traits is his social skills and enjoyment of being around other kids and people. So while he is stimulated by all this stuff we will keep going with as much as he enjoys doing.
We have found a great deal of comfort by reading your other individual stories on the SAKKS website, and really appreciate all the work and research that goes into it for our benefit. We are certainly a special group of people, who have all found sharing Kabuki Syndrome can actually enrich our lives more than we could have ever thought.
Thank youSteve and Melasande
On Wednesday the 12th of December 2001, at 37 weeks pregnant, I went in to the Geelong Hospital to have an ultrasound. The doctors weren’t overly concerned but wanted to check our babies size, as it felt very small (and hadn’t grown in 5 weeks). I could tell that something wasn’t quite right, but nothing was said. I wasn’t told to see the docs immediately so I assumed it wasn’t to bad and as I was due to see the doctors in two days anyway we tried not to worry to much about it.
At 2.30pm on Friday the 14th December I went in to the hospital for my appointment. Before I had even sat down the doctor (I can’t remember her name) told me that there wasn’t enough fluid around our baby and that it had stopped growing at least five weeks earlier, and was still very small (approx 5pounds). Then she told me I had to come in to the hospital in the morning to have a caesarian. I just looked at her, sat down, and then burst into tears. Then I stood up and just walked out of the room crying. Darrin (who was working at the hospital that day) arrived at that moment and took me back into the room to talk to the doctor. Everything was arranged for our babies birth the next day.
At 7.30am on December 15th Darrin and I walked into the maternity ward at Geelong Hospital as we were instructed to do. Once settled in, a paediatric registrar came and spoke to us about what would happen once our baby was born. A lot of low birth weight babies have low blood sugar levels and need to have an IV inserted to supply glucose to maintain the levels until the baby can do it alone, usually taking a couple of days.
We were taken to theatre at 9.45 and our roller coaster ride began. At 10.40 we gave birth to a gorgeous baby boy, who we named BRYCE JACOB McKIERNAN, he weighed 2.43kgs (5pounds 4ounces). He was so tiny (our last baby was 4.540kgs) and he looked just perfect. As suspected he did have low blood sugar levels and needed to go to the special care nursery. He was whisked off pretty much right away.
In the nursery Bryce was put on oxygen, this happens with lots of babies and isn’t a huge concern(we were told). Later in the day I went with Darrin and the kids down to the nursery to introduce Tori and Riley to they’re baby brother. While there I attempted to breast feed Bryce, but although he had not been fed yet, he just didn’t seem to have the energy. Again we were told this was normal newborn behavior.
By next morn we were told by the paed reg that Bryce was doing much better and as his sugar levels were stabilizing he would probably be up on the ward with me in a day or so. Three hours later the same man came and told us that Bryce wasn’t coping very well and his need for oxygen was increasing rapidly. And after having a blood test, ECG, and chest x-ray, it was thought he had a heart condition called Hypo-Plastic Left Heart Syndrome. After consulting with a cardiologist (Dr Andrew Davis) at the Royal Childrens Hospital in Melbourne, another IV was inserted and Bryce was started on a drug called prostin and it was decided that a team of doctors called Newborn Emergency Transport Service (NETS) would drive down to Geelong from Melbourne and take Bryce to the Royal Childrens Hospitals Intensive Care Unit.
I just remember being in total shock. How could our baby be so sick if they were ready to send him up to the ward with me two hours earlier, but worst of all how do we tell Tori and Riley that their baby brother was so sick.
Telling them was so hard, the look on their little faces was unbearable, I just wanted to curl up in a ball on the bed with them and hold them. But we had so many plans to make. My sister Susie and her husband took Tori and Riley home with them(saying good-bye was soooo hard). We then organized my discharge from the Geelong Hospital(the docs were very reluctant to do this, but I told them I was leaving whether they agreed or not).
By this time the NETS team had arrived and were stablizing Bryce for the trip to Melbourne. This took close to three hours. He was hooked up to a ventilator. Our parents stayed with us until Bryce was ready to be transported. Watching strangers take my newborn son away hurt so much. I didn’t think I could ever feel worse than I did right then.
When we got to RCH we went straight to EMD. There we saw an ambulance pull up. It was the NETS van with Bryce inside. Everyone in emerg stared as they pulled the crib carrying Bryce out of the back. I just wanted to yell at them to stop staring at my baby. We left emerg and went with Bryce up to the ICU. We had to wait in another room while they settled Bryce into his place and carried out some tests to see what Bryces condition was. It seemed to take hours, and all I wanted to do was go and see Bryce.
Finally we were able to go and see our baby. And what a scary sight it was. He had tubes everywhere, and the ventilator. Nothing could have prepared us for that first view of Bryce looking so helpless, surrounded by machines, and the sound of all the alarms going off.
Soon after we were taken up to Andrew Davis’ office. There he and Sophie (Bryces fantastic ICU nurse that night) told us the results of all the tests Bryce had. He thankfully did not have Hypo-plastic Left Heart Syndrome, but he did have a list of other complicated abnormalities. 1, Interrupted Aortic Arch, 2, Double Outlet Right Ventricle,3, Pulmonary and Aortic Stenosis,4, Bi-Cuspid Valve,5, Multiple VSDs as well as some abnormal tissue growth within his heart. On top of that somewhere between Geelong and Melbourne Bryce had suffered a stroke. We didn’t think it could get any worse than this, then Andrew told us of a disease called Necrotizing Enterocolitis, NEC, (a disease caused from lack of blood to the lower body). But at that stage Bryce was clear of it. We were asked if we had questions. My only one was is my baby going to die, and they had to tell me they didn’t know, but if our babies life was a tunnel, there wasn’t very much light at the end of it.
We went back to Bryce without a lot of hope but heaps and heaps of love. Bryce had IVs running from everywhere. I really wanted to just pick him up and cuddle him, or even to hold his hands but both were taken for Iv’s, so all I could do was rub his head. I remember begging Bryce to be ok, to stay strong for mummy, daddy, Tori and Riley. Just constantly telling him that we love him so much.
By now it was about 3am, Darrin and Sophie and I think Andrew convinced me to go to a room and lay down. I really don’t know if I slept, but by 7am I managed to get Darrin to take me back to ICU so I could see Bryce again. He had made it through the night, but things weren’t going very well. In the 4 hours that we had been gone Bryce had developed NEC. Bryce’s tiny belly was extremely bloated and was turning a horrible dark grey color, because part of his bowel was dying. I didn’t think we could ever feel worse than we did right then.
Soon after we were asked to go into the meeting room in the ICU with Andrew Davies, Stephen(ICU registrar), and Melissa(Bryce’s nurse for the day).Once in the room we were told just how bad the situation was. The doctors could no longer see a light at the end of Bryce’s tunnel. They told us it was time to think about our options. These weren’t easy. We had to decide whether to stop all medications and let Bryce die, or to let him keep fighting and hope that he had the strength to fight this huge battle. I remember screaming “Please don’t let my baby die, I don’t want him to die”. We had to think this decision through. Do we let our boy go peacefully, without pain, never knowing if he could have made it through? Or do we let him try and fight and maybe lose? No parent should ever have to make a decision like that.
We went back to Bryce and I put my hand on his. My gorgeous little boy gripped onto my finger and didn’t let go. Right then we made the choice that if Bryce wasn't letting go then we wouldn’t either. We told the docs that we chose to keep trying. We called our families and asked them to come up and see Bryce. Telling them to come because the docs didn’t think Bryce would make it was so hard, I can’t remember what I said when I rang my mum. At this point we really needed to see Tori and Riley. I really needed to cuddle my kids. Every one made the trip up to Melbourne to give Bryce some more love to help him fight. And fight he did!
Two days later Bryce’s belly was very shiny and very grey and part of his bowel had perforated. He was rushed to theatre to have his bowel repaired. When he returned from surgery he had a huge jagged scar that ran about 15cms across his tummy and a colostomy bag. It was a scary sight but he was alive.
The next few days were touch and go, but our boy had an amazing will to live, and within 3 days he was being fed the breast milk I had been expressing for him. Every day after that he got stronger and stronger. Soon the docs started to talk about the possibility of doing Bryce’s heart surgery. Things were looking so much better than they had.
Then on the 29th December Bryce’s skin turned yellow. Many tests were performed but we could not find a reason for it. It was then assumed that his liver was reacting to just how sick he really was.
Christmas and New Year came and went (and were very emotional, but happy none the less because our boy was alive). But Bryce was still catching quite a few infections.
Finally we were given the news we had been dreaming about. Bryce was to get his surgery on the 15th January 2003. The docs decided that if they didn’t do it now Bryce would never have it he was getting too sick to cope with it. Unfortunately Bryce had other plans and got yet another infection. Surgery was postponed for two days later. Two days seems to take forever when your babies life depends on it.
At 7.30am on the 17th a team of doctors came into ICU and wheeled Bryce into theatre. We didn’t say goodbye, we said “See you later”. Then we had the longest 8 hours of our lives. Our parents came and stayed with us for the day, everyone tried to get me out of the hospital but I didn’t want to go far in case Bryces heart surgeon(Christian Brizzard) rang.
By 2.30 we were back in the ICU waiting room because I wanted to be close when Bryce came out. While waiting there some friends of Darrin from Geelong had sent a huge blue teddy bear to ICU and a massive balloon saying get well. Soon after Bryce was wheeled past the room and we were given a thumbs up. OUR BABY MADE IT THROUGH.
Finally one week after the heart surgery and after being on a ventilator in ICU for five long weeks our still yellow Brycey was wheeled up to 7 west on the 24th January. He was only on two litres of oxygen and looked amazing. I couldn’t wait to give him a bath and dress him for the first time. He still had a central line in his groin so the bath had to wait another 4 days until it was removed. The day that happened he was right in the bath and he absolutely hated it. His face was screwed up in the biggest frown and he cryed the whole time.
After another week Bryce managed to cope without O2 so we finally had all tubing (except the NG tube) removed. It was amazing to be able to see his gorgeous little face without all the tape on it. But he was still catching every infection at this stage so he was constantly having blood workups to see which bug he had this time and still needed the IV in for all the Abs he needed to fight the infections.
We attempted to feed Bryce orally but he just gagged on the milk. A speech therapist came to help with his feeding issues and after watching Bryce drink (and gag) she called in the ENT Drs. They had a look down Bryces throat and found that he had Left Vocal Cord Palsy. They recommended NIL by mouth as there was to high a risk of aspiration. As I had never really had the chance to feed Bryce orally this didn’t cause me any real concern. It was something I could worry about later. The Drs were still concerned by the fact that Bryce was still yellow and carried out many tests but could still not find a reason for it. It was decided that at nine weeks old Bryce could finally be sent back to the Geelong hospital as soon as all his paper work could be completed. We were told that we could drive him to the hospital ourselves on the 15th Feb 2002. The night before on Valentines day Darrin took me out for dinner. Upon arriving back at the hospital to see Bryce Darrin pulled a box out of his pocket and in the foyer of ward 7 west he proposed. I think I was the happiest woman alive that night. Our baby was going back to our local hospital and my love asked me to marry him.
The next day we loaded up nine weeks of belongings into our car then we put our gorgeous boy in the car for the first time. We were so happy but so scared to be out on the road with Bryce with no Drs around. As we were driving there was a huge thunder storm, I was petrified and Bryce just slept through it. We made it to the Geelong hospital and took Bryce to the kids ward. We settled him in and signed all the paper work. Then we told the nurses all his habits (and there were a lot of them), and that he wears his own clothes and has his own blankets. Suddenly I was scared to leave Bryce, I knew everyone was quite capable of caring for him but I worried because the safety net of the larger hospital was gone and these nurses didn’t know him. We decided that Darrin would stay at the hospital overnight for the first night then after that we would both sleep at home. We gave Bryce a feed and left for home to unload the car and pick Tori up from school and Riley from my sisters house.
We told the kids they were getting a treat that night and we were taking them to see Bryce at the hospital. Tori was worried because we were driving the wrong way. When we went inside the Geelong hospital she let out an extremely load squeal. She had just realized that Bryce must have been sent to our hospital now. They were both so happy to have Bryce so close to home, especially when they realized that mummy was sleeping at home from now on. We spent a few hours visiting Bryce then we drove home and went to bed.
Bryce finally made it home for the first time at 12 weeks old, in time for Toris 6th Birthday party. She was so happy to have him there.
Bryce was thriving at home. He still had his colostomy bag and his NG tube but within 3 weeks he was feeding orally. His NG tubes was only used for his medications (he was on 11 at the time) and he was happy. We started getting smiles and he seemed to be developing well considering his start to life.
Unfortunately 8weeks after coming home our world was turned upside down again. We woke up one morning in May to discover Bryce had slept through the night. I was almost to scared to look in his cot. Bryce was very pale, almost grey and very hot.
My first thought was to feed him as he still had blood sugar problems (hypo glycaemia) . He drank 250ml of his milk and it instantly came out the colostomy bag. I cleaned him up and he looked much better. Darrin went off to work after I told him Bryce would be fine and I would take him to Dr Hewson that day. I made Toris lunch for school and got all the kids dressed and ready to go. We drove Tori to school and after walking into the grounds Bryce went limp in my arms. I put Bryce and Riley back in the car and drove to the hospital. We made it to the kids ward and I almost threw Bryce over the desk to the nurse on duty. She then passed him to the Dr and they ran into the treatment room.
I was left standing there not knowing what to do. Then I heard an announcement come over the PA system. It was a code blue to Heath wing 3. I collapsed onto the ground in tears, that call was for my baby. A nurse came out to tell me that Bryce had stopped breathing and had to be resuscitated but he had started to breathe again and that the doctors wanted me to come in to him. He looked so helpless.
After a series of tests were done it was found that Bryce had Rota-virus a type of gastro. He wasn’t improving and 24hrs later was on 10 litres of oxygen with his saturations sitting at only 65%. He needed more than Geelong hospital could do for him. He was transferred back up to RCH with a ventilator breathing for him.
This was the way life was for Bryce over the next 7 months, he would be sent to ICU. When he no longer needed the ventilator he would be moved to a ward then transferred back to Geelong hospital. This happened every month or so, for a variety of reasons. Bryce could not fight even the simplest of infections. But he also had seizures, ended up with a DVT (deep vein thrombosis) in his right groin, had numerous bouts of the flu, bronchitis, and pneumonia. Poor Tori and Riley never knew where they were going to wake up. They would go to bed at home and wake up at my sisters house. They knew that meant Bryce had gotten very sick during the night and had to be moved to the Melbourne hospital. They had to deal with so much and I wasn’t there to help them with it. We all just coped as best as we could in such a horrible situation.
Finally in October 2002 after going into right heart failure during a bout of the flu, it was decided that Bryce needed another heart operation. He was 9 months old and the surgeon really didn’t feel he would cope with another surgery but it was his last hope. Bryce’s amazing cardiologist and the cardiac registrar were able to convince the surgeon to perform the surgery once Bryce was totally over the flu. This took two weeks. Bryce remained on oxygen and was kangaroo pump fed through a tube in his nose at a very slow rate (this was all he could cope with by this stage). Finally Bryce would have a chance to live outside of a hospital. The surgery was a success. Bryce was off oxygen and going well when he was transferred back to Geelong hospital.
Around the same time my grandfather was in Geelong hospital with end stage liver cancer. Sadly he lost his battle. The day we buried him I was told by Bryce’s paediatrician that Bryce had gone into heart failure again and this time there was nothing else they could do for him. We asked them to do whatever they could to make him comfortable. His Dr gave him huge doses of lasix (a drug to make you pee) via his IV. This was all they could do. I cant describe the feelings we all felt at this stage but my heart was well I don’t know what it was but everything hurt so much. Tori and Riley just always looked sad and that broke my heart as much as seeing Bryce like he was.
Two weeks later Bryce came home for the first time in months. He was eleven and a half months old. We had a huge party two weeks later for his first birthday, I think we had more medical staff (Drs and nurses) there than family and friends. This was a day we didn’t ever let ourselves imagine. We had a whole family at home together and were celebrating a birthday we never thought would be.
Bryce came on leaps and bounds, after two more weeks he was totally orally fed and had an appointment to see his geneticist………….
I had come to dread these appointments because the genetics team were determined to label Bryce. I was happy in my naivety, of course he was small and so far behind the norm, look at the start in life he had. Every time I took Bryce to see Ravi he had a different thing that he was sure Bryce had. Don’t get me wrong, Ravi is a great Dr and a really nice guy but I just didn’t want to know anymore. We had been through enough and I was happy to just deal with things as they come. But we went to the appointment and on 15th January 2003 Ravi told us about this genetic condition called Kabuki Syndrome and that they were sure Bryce had it, in fact they were positive.
I thought the Dr had made it up, who has ever heard of Kabuki Syndrome. He also told me not to look it up on the internet as information could be misleading and is not always up to date.
Of course as soon as I got home I told my neighbors (who had the internet) and they looked it up for me and printed off as much information as they could find (as we all know that wasn’t much!!!). Over the following months I dreamed of meeting another KS family. Bryce was still in and out of hospital, an ear infection could see him in for over a week and this happened every couple of weeks. One week in hospital and one week out, this went on for months until Bryce was diagnosed with an immune deficiency. He was started on prophylaxis antibiotics which helped a little. It would have been so nice to chat with someone who really understood exactly what I was talking about.
In 2003 Bryce was in hospital having his colostomy closed (oh happy days) when we had the chance to meet another KS family. I was so excited to meet them. We were amazed at the similarities in the kids.
In 2004 we met some more families at a get together in SA but it was all girls and I was itching to meet a little boy. Then in 2005 we had the chance to travel to Sydney to another get together. I was so excited because this one had boys coming. But in true Bryce fashion, six weeks or so before the get together we were told at a routine cardiac appointment that Bryce’s heart wasn’t coping too well again and he would need more surgery. I was told to take him home and the Dr would call me the next week to let us know the details. What a week that was, I was so upset, Bryce seemed so well yet he needed more surgery. It is hard to take at times to say the least. But that was life with Bryce.
The Dr called and told us the surgery had been booked for October 27th, the day before the family get together in Sydney. Waiting for the surgery date was hard, we had never been in this situation before. Bryce had always been really sick and surgeries were life or death and the waiting was always done as an in patient at hospital. Trying to keep Bryce well and away from germs but not wrap him in cotton wool was difficult, but we did it. He had the surgery and it went really well. It was then that we realized he really had been looking pretty bad before the surgery, because now he looked so pink and healthy. He was only in hospital for 5 days and came right home. It was amazing. We took him home and went to netball to surprise Tori and Riley who didn’t know he was coming home yet.
Since then Bryce has been diagnosed with a seizure disorder and unfortunately Pulmonary Hypertension (progressive, high blood pressure in his lungs). He also has left hemiplegia, he will be having Botox therapy in a little while but it will require surgery to release muscles in his left leg very soon.
Life is tough sometimes but we manage. I have learnt to deal with things as they happen and to not look to far into things, sometimes what looks really bad might just be a bad day.
I would like to thank two people who have become such great friends over the past two years. We met Peta and Adrian Colton in 2006 when Darrin and I hosted a KS family get together here in Geelong. They are also the founders of this wonderful web site. And are the reason we are able to find fantastic information that was made for us Aussies.
I could write another 8 pages about everything else that has gone on in Bryce’s life since he was diagnosed with KS but I have cried enough. Bryce is standing beside me telling me he found his photo album we made him with his photos of the Wiggles concert and the party he had for his 4th birthday two years ago. He is singing a song from one of his DVDs and is walking around the house trying to find his favorite wrestling figurine. I guess I am trying to point out that Bryce got to grow up into a 6yr old, he goes to school and has made some friends and is really happy (although very spoilt).
Tori and Riley has grown up into amazing kids. They have survived, actually are still surviving a childhood no kids should have to live in, one that involves a sick brother or sister. Tori is now in high school and was accepted into an accelerated learning program and Riley is going really well in grade 4. All the kids were very happy when we had a little girl in 2004, Hollie is now a very cheeky three and a half year old, who loves going to kinder.
I thank my lucky stars every single day that I get to growl at Bryce for being naughty (coz all little boys get naughty, don’t they?), and we get to take him and the kids on holidays and play games. But mostly I am so happy to get to do all the things people who don’t have sick kids take for granted, I get to take Bryce to school. I get to put DVDs on for him and watch him jump on the trampoline and we get to watch him at Auskick and even karate (both of which he now does). But my most favorite thing, I get to take photos of all my kids together doing nothing at all and oh man does that feel good.
Having Isabella at 19 and raising her as a single mum was always going to be hard but to have a child with Kabuki, which was undiagnosed until she was five, was definitely a challenge. Within days of Isabella been born I knew something was not right, she was a ‘failure to thrive’ baby that refused to feed properly. Born at 7Lb 14oz by three months old was weighing just 7Lb, she was placed on a nasal gastric tube, and within a couple of weeks and many midnight dashes later to the hospital to replace the tubes she pulled out, I was trained to replace them, and test the correct position on my own.
She began to put on weight and by 5 ½ months was given a gastrostomy and fundoplaction to stop her throwing up constantly. The Gastrostomy became part of our lives till Bella was around 4 years old and it was deemed safe enough for her to take thickened liquid (and gradually regular food) orally.
By the time she was 2 ½ she had open heart surgery to repair a large ASD, she was lucky to survive the surgery but once she made it out of intensive care she made a quick recovery.All up, Bella’s diagnoses have included:
- Failure to thrive (growth retardation)
- Intellectual impairment
- Low muscle tone
- Joint hyper extensibility (mainly knees)
- Sleep apnea (both obstructive and central)
- Pierre Robin syndrome and Velo-cardio-facial syndrome
- Submucous cleft palate (which has not been corrected)
- Pulmonary stenosis and pulmonary hypertension
- Periventricular white matter changes in the frontal lobes
- Mild hearing loss as a toddler, going through three sets of aids later, but now hears within normal limits
- Open-heart surgery to repair a 20-mm ASD at 2 ½ years
- Decreased vision (refractive) (has worn glasses since 10 months old)
- Persistent fetal finger pads
- Short stature
- Sparse body hair, especially on face, arms and legs
- Tooth abnormalities
- Harp shape upper lip
- Broad bridge of nose
- Bella has also been diagnosed with obsessive compulsive disorder (OCD), attention deficit disorder (ADD), oppositional defiant disorder (ODD), pervasive developmental disorder (PDD-NOS) and petit-mal seizures.
We have endured around 50 general anesthetics with Isabella, knocking her out for everything from open-heart surgery to countless sets of ear grommets, gastrostomy tube changes and many dental surgeries, which have mainly been for selective deletion of teeth to help with overcrowding and countless repairs and root canal to other teeth.
Last year we had many discussions and tests run with medical professionals about placing Bella on growth hormones. Her bone age at 14 was measured as age 12. Since then, and as she moves into ‘normal’ teenage sleep patterns, she has grown 6cm and put on 4kg in eight months (now measuring just over 150cm or 4’11”). Even compared with her younger siblings, she is tiny but we hold out hope that she will reach over five feet tall.
We have been very lucky to have a great team of physios, occupational, speech and play therapists, swallowing coordinators, ear, nose & throat specialists, opthamologists, orthopaedists, paediatricians, signing teachers and a number of special education playgroups, respite centres and preschool teachers... a team that has been instrumental in getting us where we are today. They guided us on almost every aspect of Bella’s development, including steering me towards the Hanen program, which taught me how to teach my child to talk, and how to transition her away from the sign language she ended up using instead of talking! We were also blessed by an engineer and a group of volunteers who designed and built her a special set of ‘training wheels’ for her push bike, which enabled Bella to feel like a real kid.
With all of this help, Bella sat up at 5½ months, crawled at 16½ months, weighed 14kg at 14 months, walked six weeks before her third birthday (with the aid of a walking frame) and walked confidently at the age of 5½ years with the help of stirrups. She started school with her walking frame and stirrups and was barely toilet trained, but by the end of primary school was running the cross-country.
I am constantly amazed at what my daughter Bella achieves every day. The road to where we are now has certainly been paved with bumps along the way, whether it’s the grief I felt when the reality set in that I didn’t have the healthy baby I’d dreamed of, all the times I resuscitated her when she stopped breathing, or the little irritating things like the repeated questions, ripped clothing, hitting her brothers or sister, chewing on pens and panicking in a shop if I am out of sight. These are tough to deal with but it’s also not very hard to see how lucky we are to have such a genuinely healthy, happy & lovable child in our lives. Bella, who has not long turned 15, now rollerblades, ice skates, swims confidently, runs and competes in the special education carnivals in our area, and rides a pushbike and a motorbike unaided. Her biggest gratification now is gained by scaring me half to death with her ability to ride her quad bike flat out in the bush! She also cooks, does household jobs, catches buses, and goes shopping. Bella also shows amazing empathy for people, getting very concerned with other people’s feelings, and is a very nurturing young lady who loves to be with babies and young children.
The whole family was blessed to attend the latest Kabuki Retreat in January 2011 in San Remo. Here we met other children with Kabuki Syndrome and finally met in person with these families, some of whom I only knew through emails and phone calls. It was so amazing to watch Isabella look at some of the KS kids and really connect with them… like finding long lost relatives! My other children (aged 4, 6 & 11) also got to know other siblings who experience the same hardships and joys they themselves do. It was a blast watching all of them pitch in if any of the KS kids needed support with the closest kid just automatically helping. The support and understanding, the shared experience, the education and hope these retreats provide is a valuable asset for any family living with KS.
My name is Linda Flannery and I am the mother of 16 1/2 year old Brentarah. I was pregnant with Brentarah at the age of seventeen. I had a lot of morning sickness whilstcarrying Brentarah. I had all my regular check ups and scans, they said everything was fine. On the 11th June, 1993 at Latrobe Hospital Brentarah was delivered by Caesarean Section.
As I wasn't dilating and when I was pregnant I suffered with high blood pressure. After Brentara was delivered they said she could not suck properly so they inserted a nasal gastric tube. I had learnt how to do this and was taking Brentarah home on day five. I had her all dressed up and was waiting for discharge when the paediatrician came in and said we have just found an ultra sound report saying your baby has one kidney. We lived in Roseberry Tasmania and was informed to stay at my fathers house in Devonport for a week then see the paediatrician again. So we stayed with my dad and step mum for a week waiting for the appointment. Meanwhile Brentarah was still tube fed and had reflux very bad, I would try her on a bottle every feed before I would put her down with the NG tube. On the day of our appointment with the paediatrician I was told that my daughter had a funny shaped heart and an unusual shaped face, she said Hobart hospital does not want to see you, they want me to send you to RCH Melbourne. Me being a young mother, I was starting to panic.
In the next week we were off to Melbourne. When we arrived we settled Brentarah into the neonatalward. We went out for tea and when we arrived back from tea I seen a big machine over Brentarah. I could see something beating and it looked to me like something was wrong with her heart. I turned to Brentarah’s father Kayden and said our daughter has a hole in her heart. Then the Dr came over to where we were standing and said your daughters needs open heart surgery asap. I nearly fell to the ground. The surgeon sat us down and drew pictures of a normal heart and the aortas and then drew Brentarah’s heart. She had a massive hole in her heart and her aorta was blocked. The day Brentarah was due to go to theatre she couldn't as she caught a virus in neonatal ward so it was a risk of an infection if they opened her up. Brentarah finally had her surgery. It was a long day. Brentarah had lots of blood transfusions as her blood wouldn't clot properly. Brentarah could breathe on her own, but they wanted her to rest. Her chest was left open for 3-4 days till the swelling went down, then she went to theatre to bestitched up. She still had the wires in case she needed a pace maker. Brentarah died a few times on us but she always came back. After they gave us the ok to take her home on July 22nd 1993 which was my 18th birthday we flew back to Burnie Tasmania with a nurse. Days went by and Introducing Brentarah continued.
Brentarah was still failing to thrive. At 3 months of age we went back to R.C.H Melbourne. Brentarah had to have an operation on her hip as when she was born she had clicky hips. She always wore two cloth nappies to try and fix it but it didn't work. Brentarah had the hip operation and we returned home to Tassie. Brentara was sick one day with what my step mum said was an ear infection so I took her down to her G.P, where the Dr met me at the door and said sorry your daughter is not going to live past three months of age. I fell to the ground and started crying. The Dr had received information from R.C.H Melbourne but had not informed us. I was told Brentarah would never walk, talk or eat on her own. Being so determined to not give up I always treated Brentarah as a normal baby. I always tried bottle feeding before the tube, at 9 months old the tube fell out and Brentarah’s dad said take her down to the surgery and get the tube put back in. I said no if she is thirsty she will drink. Within 3 days I had Brentarah drinking from a bottle. All of the doctors were so amazed. Brentarah still had episodes where she would stop breathing. At this stage she had gone from having plaster on legs to a brace.
At 14 months old Brentarah was walking and doing really well. She was still very dainty. I took her to Genetics when Brentarah was over 2 years old. The genetics were in the room not even 3 minutes and said your daughter has Kabuki make up syndrome. I was devastated as I blamed myself for all that went wrong. But I do not drink and smoke and was wondering what I did to deserve this. Brentarah did a few years at early special education in P'port then we moved to Railton Tasmania where I went to enrol her in a normal primary school. The teacher said she could not have Brentarah in her class as her other students would suffer. I stood strong and stood my ground. I wanted my daughter to have the right to an education. So finally Brentarah started school at Railton with an aid to help her during the day. Brentarah did a lot of physio and hydrotherapy as well as speech therapy. I was waking up every day thinking this will be the day I lose my daughter as the doctor only gave her 3 months. Brentarah was quiet growing up but would always have a go. We ended up moving to Wynyard where Brentarah went to Table Cape Primary. She was loved by all the students and teachers.
She completed primary school in leaps and bounds and then went onto Wynyard High school, she is a loved student here at WHS and has a go at everything. She goes horse riding with the disabled school, goes down town to do community access where she has learnt all about the value of money and paying for things. Brentarah is now in grade 10 and loves school. Brentarah will have to have more surgery on her hip as its not growing right but causes her no pain or discomfort. Brentarah has a younger brother, Brodie who is nearly 15. We got him checked at birth but he did not have Kabuki. Brentarah has two kidneys but one is lower than normal. She wears glasses exceptfor playing outside. we are so blessed to have Brentarah, she is so loving and caring.
I found out at 19 weeks of gestation that Amelia had Hydrops, Cystic Hygroma, and a very large VSD (Ventricle Septial Defect). They told me that she had a 10 % chance to survive and that she had a chromosome defect. Working as a Delegated Nurse taking care of disabled adults and children I understood immediately even though, I was only 20. She was mine and I was taking her the way God planned for her to be. As the weeks past… I had ultrasounds and her heart exams weekly. From 24-36 weeks gestation every Friday I had a non stress test…some she passed and some she didn’t requiring additional testing.
At 36 weeks they told me she stopped growing and that they were going to have to induce labor. I was so scared not knowing what to expect. They did some testing already and they thought she had Turners Syndrome. That was negative. Then they mentioned Noonan’s Syndrome. There was no definite answer. She was born emergency C-section her heart couldn’t take labor after 7 hrs. She was 5 lbs 3oz 17in long. As soon as I heard that scream I knew she was a fighter. Other then not wanting to eat much she had extra skin on the back of her neck where the hygroma was. They knew about her heart and we left in 3 days. We followed up with the cardiologist. Knowing she needed open heart surgery.
At 10 days old she wouldn’t eat more them a few cc’s at a time. She couldn’t suck, swallow and breathe. She had an NG for a bit but the doctors ended up putting in a feeding tube witch eventually got switched to a Mickey button. She was so sick.
The first year of her life became a blur. We had many genetic tests done. We never got any answers. She had her first open heart surgery (Lg VSD and Sm VSD closure and a pfo repair) at 3 months. She was only 3 lbs at that point… she just wouldn’t grow (failure to thrive). She had GERD. They had to put in a broviac. I found out at this time that she had small kidneys and scoliosis. She was also fighting ear infections all they time she has had many sets of tubes. She had a mini stroke while she was in my belly. She screamed all the time. We couldn’t figure out why. Then after developing breast buds they realized that she was in menopause, she had precocious puberty. They have surgically placed a Supprelin LA implant, hormone therapy, in her right arm until she is 11 or 12 years old. The implant holds a year’s supply of daily released medicine that requires them to surgically remove and replace a new implant.
When she was happy she was extremely happy. She loves to laugh and smile. She would roll to the right to get anywhere she wanted. By 10 months she was saying mama, dada and Dee Dee. She was several months behind but she had OT, PT and Speech starting at 4 months. She sat alone at 14months and would still roll up in till almost 2 when she started crawling. She starting taking bites of baby food but had her liquids thicken.
At age 2, she had surgery on her left eye to fix esotropia. She also started wearing glasses. I found out that she had a mixed mild hearing loss. At 2 ½ she had her second open heart surgery (Pulmonary stenosis and had a DCRV Double Chamber Rt. Ventricle Repair). She started walking a week after her heart surgery. Her speech was improving and she was making wonderful developmental strides. She was still screaming during baths and when getting lotion on. Finally I videotaped bathing her and the physiologist realized that she is Tactile Defensive. She doesn’t like to be rubbed with anything, her hair brushed, or teeth. It also made sense why she didn’t like mash potatoes, pudding and apple sauce. She was working very hard with eating and touching rice, beans and sand this year. It was rough but she did it. She is still continuing to tolerate many of her dislikes. Especially learning how to tolerate daily life.
At age 3, she already had RSV 2 times and kept getting hospitalized for pneumonia. I found out that she was born with out the medullary part of her kidneys (the inside) and she would eventually need a kidney transplant. Her right Kidney is ectopic (in the front).
I met with an amazing parent mentor at Akron Children’s Hospital along with a wonderful genetic counselor. We made a folder of all of Amelia’s medical problems. All test and many pictures. She took it to a CFC. Convention and many genetic Drs. were able to look at her folder and we got few suggestions. Kabuki being one of them. I researched all of the suggestions. As soon as I started reading about kabuki. I got chills and started to cry. I new my search was over. No, it wouldn’t change anything but it would hopefully let us know what to look for. I took all this information to our genetic Drs. they agreed that this was it and sent us to see Dr. Ming in Philadelphia, Pa. She was clinically diagnosed.
It was the biggest relief that I could have. I just wanted to know how to explain to her when she asked why.
At age 4, she was still fighting pneumonia all the time. Also many high fevers. Finally we were referred to see an asthma doctor. Where after a lot of testing they realized that she had an Immune deficiency. Her Body is not making B cells to fight infection. She is now on preventable meds. She also had to have surgery on her right hip it was coming 100% out of the socket. She had to have her bone cut and rotated back in to the socket and a piece of fake bone added to her hip to hold it in place (Richard’s Hip Screw). VDRO (varus derotational osteotomy) and a pelvic osteotomy. Even though she was fighting all this. She was enjoying life. Learning so much. Working hard on eating. So well that she starting eating everything by mouth. Doing great learning her colors. Loving every minute of school.
At age 5, she went right back to walking and building her strength. She got the Richard’s Hip Screw out. Healed wonderfully and was back to normal in 3 weeks. She’s still doing great at eating. She is still fighting pneumonia on and off. She started kindergarten and loves it. She knows how to spell and write Mia (Her nick name). She still needs a lot of verbal redirection, but is talking amazing asking questions all the time. Knows her ABC’S. Drawing most shapes. She is so fun. She loves being silly. She’s so full of energy jumping, singing and dancing!! Loves music and Swinging. She likes trying to play softball (I am not too fond of this) I know I am over protective. She talks about her baby doll all the time and loves pretend playing. She’s getting good at games and puzzles (actually beating me with out me letting her cheat). She is a really lovey and is very sensitive. Loves her little sister Katie like crazy.
She just turned 6. I am so excited to see what this year brings developmentally. I will keep my fingers crossed that she will stay as healthy as she can. She is almost completely potty trained except at night. She hasn’t received a tube feed in over a year.
She will be starting growth hormones this year. She is still a little peanut…only 30 lbs and 39 inches tall. She has been a true blessing and a complete joy. I wouldn’t have her any other way. We have an amazing support system. We couldn’t have had better people in our lives. They have helped shape the person she is today. All of the Drs., Nurses Therapist, Teachers and anyone that has helped us go in the right direction.
We have Best family and friends who no matter what is going on puts a smile on her face. Amelia is who she is. We love that she is so unique. That’s what makes her extra special.
It was a beautiful sunny day in April 2007 when Paul and I finally got married after 10 years together. Then on August bank holiday we discovered that I was pregnant and we were over the moon, we immediately told our families and friends, unable to keep the good news to ourselves. The pregnancy was a dream, I felt fantastic and loved my changing body. Everyone said pregnancy suited me. In December we left our London flat to move to the suburbs and a new home perfect for our little family.
Just before Christmas we had our 20-week scan, we were so excited to see our little baby wriggling in my tummy. As the sonographer counted fingers and toes Paul mentioned that his niece, Grace, had recently been diagnosed with an ASD hole in the heart. The sonographer said that she would make sure she had a good look at our little one’s heart to put our minds at rest. An hour later and she was still trying to get a clear picture of the baby’s heart, she called for her colleague to have a go but they just couldn’t see the chambers clearly enough to get their required measurements.
An appointment was made for us to go back the following day for another scan by the consultant in the fetal medicine unit and the sonograhper tried to reassure us that everything would be fine. We walked out of the hospital into the December drizzle and Christmas lights of Tottenham Court Road in shock, unable to comprehend that there might be something wrong with our baby. That evening we desperately tried to convince each other that tomorrow the doctor would tell us that everything was fine. The fetal medicine doctors were lovely but they did not tell us what we wanted to hear. They said that there was definitely something wrong but we would need to see a specialist fetal cardiologist at Great Ormond Street. Just the name of the famous hospital struck fear into us. If it was serious enough for us to have to go there then it must be bad, right?
The next few days were a blur and when we finally walked up to the entrance of Great Ormond Street it was with a mixture of fear and awe. Dr Yates did the scan but gave little away, we desperately tried to read his facial expressions for a little nod or smile that would indicate that everything was fine after all. We were taken into a little side room for the verdict. As he reeled of terms like co-arctation of the aorta, hyperplastic arch, ASD, VSD, small left ventricle, possible Hyperplastic Left Heart Syndrome my head began to spin. I felt like I was up near the ceiling looking down on myself. Paul was fantastic and asked lots of relevant and intelligent questions but I was silent, quietly freaking out inside. Dr Yates very tactfully asked if we were still committed to the pregnancy and we both said yes immediately. This was our baby and we loved it no matter what. He explained that they would monitor the baby’s heart closely to see if the left side was still growing or if it had completely stopped. He said that regular scans over the next few months would allow them to work out a plan for what to do when the baby was born and said that he was ‘cautiously optimistic’.
We sat in a cafe around the corner and the waiters kept a respectful distance as I cried into my tea and we called our parents. Suddenly we both felt that we really wanted to know if the baby was a boy or a girl, we wanted to know who this little person was. We called the hospital and they kindly agreed to give me another scan the next day to have a look. As we had always thought the baby was a little boy and we decided to call him Harry, Paul’s Granddad’s name.We had countless scans and appointments over the next few months. We tried to keep our spirits up and enjoy the pregnancy but each scan was terrifying.
On a positive note the left side of the heart, although small, seemed to be growing and the VSD got gradually smaller. It was very hard to explain things to friends and colleagues but I found it impossible to lie and say that all was fine. People would either be overly optimistic and tell us that everything would be great or try to block it out, neither of which helped. Our family and close friends were a great support but I cried a lot, especially when I was on my own. As my bump got bigger and bigger it was decided that a scheduled induction at 38 weeks would be safest and on the 14th April we took a taxi to the hospital to meet our baby. Everything was great, we were laughing and joking and I enjoyed the first 27 hours of labour, we used hypno-birthing and reflexology, I was fine. Then the baby’s heart rate started to drop alarmingly and we got scared. The doctors wanted to do an emergency caesarean and we had to agree, Harry was born at about 2pm on the 15th April at University College Hospital weighing exactly 6lbs.
The doctors gave him a quick check and Paul briefly held him near my face for a kiss then they took him to special care where the CATS (Cardiac Acute Transfer) ambulance team were ready to transfer him. Paul went with Harry and I was taken to the recovery ward, which was full of new Mums with their babies. As Harry was stable and in good shape Paul was able to talk the CATS team into bringing him to see me in the ward, a first for UCH. He was perfect, tiny and plump at the same time with huge dark blue eyes. We had a cuddle for a few precious minutes and then it was time to go. Paul left with Harry in the ambulance for the short journey to Great Ormond Street and my parents sat with me at my bedside until the feeling started to come back in my body and I finally fell asleep. Harry was on a saline drip to keep him hydrated and a drip of a hormone called prostin, which maintained the fetal circulation in his heart, this kept his circulation going until the doctors could decide exactly what to do for the best.
That night Paul stayed with Harry all night long in the high dependency section of Ladybird Ward. Paul changed his first nappy and comforted our little boy as he had lots of horrible canulas fitted. But perhaps the hardest thing was that Harry wanted to feed, he kept turning his head to suckle but the doctors said he wasn’t allowed.The next morning I woke up at dawn feeling awful and assuming that I would just be stuck in bed all day. To my huge surprise the staff nurse told me that I had to get myself up and washed as she was arranging an ambulance to take me to GOS so that I could spend some time with Harry. Clearly the nursing staff saw how important it was that I was with my baby. So, dosed up on morphine and promising to take my tablets I was wheeled off to GOS.
I spent a lovely few hours cuddling Harry in the chair next to his cot wrapped in a little sheet, he was perfect even if he was connected to all of those machines. As his condition was stable and he was tolerating the prostin (it can stop babies breathing) the doctors were hoping to delay his surgery until the Friday so that they could run tests and have a case conference where all of the medical staff involved could put their heads together and decide what to do.What I didn’t know was that, in addition to the coarctation of the aorta and the hyperplastic arch, the left side of Harry’s heart (which we knew was small) was right on the borderline of being a viable size. Any bigger and the surgeons would perform what is called a bi-ventricular repair which would ultimately give him a ‘normal’ heart, any smaller and we would be facing something called a Norwood procedure which would mean three risky surgeries over his first three years and a complete re-plumbing of his heart and lung circulation.
The medical team were split on which way to go, some wanted to go for the bi-ventricular route and see what happened as this would give the best outcome if it worked. The rest felt that it was best to go straight for the Norwood as the left side was too small and they were getting better at doing this with each child that had the procedure. The biggest risk was that if the bi-ventricular repair didn’t work they would have to do the Norwood before Harry was 14 days old which would be a huge strain on him.
The all-important case conference was on the Thursday morning and apparently it was quite a debate. When the consultant came to tell us that they had decided to give the bi-ventricular repair a go Paul broke down and cried for the first time. I didn’t understand until several months later but Paul had been keeping all of that from me so that I could enjoy those few days with Harry. That is, and always will be, the most amazing thing anyone has ever done for me.
The surgery was scheduled for first thing on Friday morning. I was still an inpatient at University College Hospital so I had to spend the night there, I didn’t get much sleep and cried for most of the night, I felt sick from the morphine and my body ached. The staff were fantastic but I was still surrounded by new mothers and their crying healthy babies. The next morning Paul took baby Harry to the anaesthetic room and held his hand while he fell asleep, his tiny body on the huge surgery bed. Paul waved bye-bye and was gently corrected by one of the nurses ‘its night-night never goodbye at GOS’ a touching little detail which the amazing staff live by. He then walked the short distance to my hospital in a daze. I don’t really remember being discharged or the journey back but by the time we got to GOS Harry had already been in surgery for a couple of hours. We got back to Ladybird Ward to find the staff nurse on the phone with the surgeon, they wanted to talk to us and were coming to find us. We had no idea what this meant, why was one of the surgeons coming to see us? Shouldn’t he be in there doing the surgery? He explained that they had hoped to do the surgery by going in through Harry’s side. This is called a thoracotomy, it avoids the need for heart by-pass and has a quicker recovery than opening the chest down the front. Unfortunately they had not been able to do a good enough repair using this technique and they wanted to go ahead and open up the front of Harry’s chest. This meant that Harry would be on the heart by-pass machine, he would be in surgery for longer and his recovery would be longer but they would be able to do a better job of the repair.
We had no choice but to agree and spent the next few hours in stunned silence waiting for news. Eventually we were told that he was out of surgery and in CICU, the special intensive care unit for heart children. We were told to make our way there, as he would be ready for us to see soon. The nurse then came back and told us to get up there quickly as he was going back to surgery. We ran into CICU to find countless doctors around his bed. His left arm had gone purple, which meant that there was no blood going into it - it looked like a huge bruise covering his whole arm. I collapsed into a chair nearby, no longer able to hold it together. Paul was told that the artery leading to Harry’s arm was blocked but that they had no idea why. Harry was rushed back into surgery where the amazing surgical team performed micro-surgery on the tiny artery patching it and restoring the circulation. When we were allowed back to Harry’s bed we were presented with more machines and wires than I could ever have imagined. In the middle was our tiny little boy, wrapped in cotton wool and on a ventilator he was completely limp and had his chest open. The nurses who were caring for him explained that his chest was open to allow the heart enough room to swell up without damaging it. It was horrifying to see through the clear dressing into his chest cavity where we could actually see the blood being pumped. We were allowed to stay for a little while but the nurses clearly had a lot to do and they promised to call us the second anything changed.
We were staying in the family accommodation which is just a few minutes from the hospital, as we walked across the square London had never felt so quiet. I can’t remember going to bed but we woke at 6 to call the CICU, they said that Harry was OK. The important thing was that he had got through the night. We spent the whole of the next day at CICU. We quite quickly got our heads around what each machine was for, what the bleeps and buzzers meant and which tiny signs we were looking for as positive indicators that he was going in the right direction. We all prayed for Harry to do a wee as this was the most positive sign that his kidneys were working. Over the next few days there were lots more tests, a brain scan, dialysis, physiotherapy, countless hours sitting by his bedside and eventually a little bit of wee. Our parents came to the hospital every day, which forced us to take a break and get some food. They were all wonderful and although it was hugely hard on all of them they were able to stay positive for us even though Paul and I could not bring ourselves to do so for fear that something was going to go terribly wrong.
After a few days the surgical team said that Harry was doing well enough to have his chest closed. This involved turning the CICU into an operating theatre as it is safer to bring the theatre to the baby than the baby to the theatre. That went well and Harry continued to make tiny improvements until he was at last allowed his first meal. This was 1ml of breast milk - a teaspoon is 5ml - which felt like such a huge achievement for us all.
I had been determined to breastfeed Harry and had started to express my milk on the day after he was born. I was expressing every 4 hours and had lots and lots of milk, which was amazing as stress can make the milk dry up. There is a tiny expressing room near the CICU at Great Ormond Street and this became my refuge. I could hide in there in the quiet for a few minutes alone.Over the next few days Harry gradually improved and came off the ventilator onto CPAP and then finally he began breathing by himself. We learned how to clean him and change his nappy around the wires. He was tolerating the tube feeds well and even started to wriggle as the sedatives wore off. There were some very scary echos but on the whole his heart was doing well. Soon the nurses started to talk about leaving CICU for Ladybird Ward and after about 10 days we were off down the corridor and installed in a nice little room on the cardiac unit.The priority now seemed to be getting Harry to feed and put on a bit of weight. We tried to get Harry to breast feed every few hours but he didn’t seem to be able to do it, he couldn’t latch on and I found every attempt really traumatic. Eventually I had to give in and we decided to try Harry with a bottle, he was better at this but tired very quickly although he did put on little bits of weight each day. The doctors decided that in order to gain a proper picture of the state of Harry’s heart they needed to do something called a Cardiac Catheter to test the pressures inside. This involved passing cables up into his heart through the arteries in his groin under general anaesthetic. Terrifying though it was we took Harry back to the theatre for the test and sat waiting for news.
When he came back to the ward, wheeled in on a huge trolley, the news was good, the pressures were better than the doctors had hoped and the Norwood Procedure would not be necessary. During this time I was sleeping on the ward with Harry while Paul commuted home every evening. This was hard in different ways on both of us. I was exhausted as it is impossible to sleep properly in a fold out bed in a hot noisy ward. Paul was feeling torn between leaving us and knowing that he was no good to us if he was exhausted too.In the weeks that had passed since Harry's birthday Winter had turned to Spring and it was wonderfully sunny outside. As soon as he was well enough the nurses gave us a pram and with Harry wrapped in many blankets we were sent out for lunch. I remember sitting in a cafe feeling so proud and protective. Some good old fashioned fresh air did us all good.
Finally the time came for us to leave, this had been discussed for a few days and I became increasingly desperate to go home. Harry's temperature had fluctuated a bit and he hadn't gained weight as quickly as the doctors had hoped but I needed to go home and the idea of staying any longer really upset me. The doctors looked into sending us to a hospital nearer to home but we all agreed that, with the right support, we would be best at home. Paul arrived with the car seat and we thanked all of the wonderful staff as we left. Driving home with Harry in the car was very strange, I don't think Paul had ever driven so slowly around the North Circular. We were greeted by our whole family, the house was decorated with blue and white balloons and ribbons and a stack of presents awaited us. After presents, cake and lots of reassurance we were left to our own devices. Harry was still being mostly tube fed so we had bottles and bottles of breast milk to freeze and syringes to prepare in addition to the usual logistical confusion of bringing home a new baby. We were on a two hour feeding schedule which is totally relentless as there isn't enough time between feeds to do anything. On the first night we tucked our little boy into his moses basket next to our bed and set the alarm.
Each feed involved checking his feeding tube, flushing it with sterile water, offering him the breast (which he didn't understand), then offering a bottle (from which he would take a few millilitres) and finally topping him up with the rest of the feed through the tube. Unfortunately he would often bring most of it back again.The next day our lovely health visitor came to see us for the first time as did the area nurse and our parents. We had lots of support and gradually got used to being at home. We even ventured a trip to the super market. Harry got more wriggly and after a few days at home he pulled his feeding tube out. He seemed so much happier without it but the nurse said it should go back, however at our weekly check at GOS he was allowed to have it removed. He was doing really well and although he was very frail and his scars were very raw we tried to get on with life with a little baby as any other new parents would. Paul returned to work and I started going to Mum and baby groups.
Harry was always the littlest of his new baby friends, they were all better feeders, more active and more robust, they all put on more weight and were more demanding but Harry was by far the cutest and was very content. However while other new parents are worried about when their baby will sleep through the night we were busy worrying about if and when Harry would need more surgery or how underweight he was.We began to notice that Harry would get very upset when he was sick, which happened a lot and seemed to have very bad wind. This culminated one evening, when he was 10 weeks old, with him coughing and choking so badly that we called an ambulance. We were rushed with sirens blaring into Whipps Cross hospital to the waiting medical staff. Harry was hooked up to all sorts of machines, when presented with a heart baby A&E pull out all of the stops. He was diagnosed with Chronic Gastrointestinal Reflux Disease which, in its milder form, is very common but most babies do not get themselves hospitalised with it. We were given medicines to control the symptoms which he has been on ever since and allowed home after a week. I felt ok about this, at least it was nothing to do with his heart. In addition to the reflux Harry had paralysis of his left vocal cord, this meant that his voice was very quiet and that he had a weak cough and swallow. It meant that a lot of the time he would aspirate on his milk or when he was sick. This caused a lot of chest infections and ultimately lead to the introduction of Carobel to thicken all of his liquids. The Carobel helped a lot and increased his intake of milk. Over time his vocal chord has strengthened and he is now very noisy indeed.
Colds and chest infections are always a worry with Harry because he goes downhill so quickly and finds it hard to fight them off. If we can't get him to the GP we have learned to take him straight to A&E where he usually gets a chest xray, sats monitoring, antibiotics and if we are lucky we get sent home. Over Harry's first year our appointments at Great Ormond Street were monthly, then bi-monthly, then four months and then six as each time we returned we were told that his heart was doing well. Miraculously we were even told that his ASD hole in the heart was gone. This was wonderful and unexpected news as we had always expected that Harry would need further surgery to repair it. Harry's reflux gradually came under control with the medication and a few practical tips such as putting him to bed on a slope but his weight gain was very slow and he was still sick often. We went to see a dietician who mapped out a high calorie diet full of ice-cream and butter but this often made him more sick and mealtimes were very stressful.
We had our first family holiday and our first christmas together. Harry was such a jolly little boy but was still very much a baby compared to his friends who were crawling and beginning to walk. Sadly in the new year of 2009 we lost Paul's Mum which was hugely traumatic and unexpected. Between this time and Harry's birthday I became more and more depressed and started to suffer from panic attacks. I had been suffering from postnatal depression for months but with the support of family, friends and a wonderful councillor I had been able to keep on top of things. Conversely Harry was doing great barring a dose of Phnuemonia in the spring, I couldn't understand why I was feeling worse as he was getting better and all of the stresses of the previous year court up with me. For my own sanity I needed to get back to work but returning to my old career was not really an option as it meant long hours and commuting into London. I wanted to work but I needed to be Harry's main carer too. I decided to start up my own business designing and making curtains and soft furnishings, this was a big decision but it was also something that I had always wanted to do. Most importantly I felt that by recovering so well from his surgery Harry had given me this opportunity and I felt that I owed it to him to make the most of this chance.
Harry started nursery in February, when he was first born I never would have foreseen this day. From the very beginning he loved it there, the staff and the management were wonderfully understanding of his needs and treated him just like all of the other babies.There had always been a nagging feeling that it was quite a coincidence for Harry and his cousin Grace to both have heart conditions and for this reason we were referred to the Clinical Genetics team at Great Ormond Street in August. However we really expected the Geneticist to say that it was just a coincidence, that there was no more to it than that and that we were to stop worrying.Harry was examined, we explained his medical history and went through our family tree. Eventually we were told to get Harry dressed and to take a seat because the doctors had a diagnosis. This was very confusing as we didn't think we were looking for a diagnosis. The doctor told us that there was no connection between the two children's heart conditions and that Harry almost certainly had something called Kabuki Syndrome. He said that it was a clinical diagnosis based on Harry's medical history, his facial features and several other things. We left the appointment with very mixed feelings, we had always thought there was something else going on which might explain things but we really wanted to be told that there was nothing to worry about. We now had appointments to attend with a Audiologist to check his hearing, an eye specialist, a kidney scan and more blood tests. By gaining an answer in the form of the Kabuki diagnosis we now just had more unanswered questions.
Against the doctors advice we immediately googled Kabuki Syndrome when we got home and were blown away by what we read. Effectively we had gone to the hospital with a baby with a poorly heart and come home with a 'disabled child'. The terminology on the websites was terrifying and the list of symptoms seemed endless, varied and cruel. When presented with a list like that it is impossible not to think that all of the symptoms will happen to Harry but that is just not true. Yes Harry has a lot of the symptoms on the list but he also has no sign of a lot of the others.We had no experience at all of helping someone with learning difficulties, no idea of what support is available and no idea who to ask. Above all we felt that Harry had been cheated out of a 'normal' future. All that any parent really wants is for their child to be happy and grow up with the world as their oyster. Our minds were filled with a thousand questions which most parents don't give a second thought too, would Harry go to a regular school, would he ever pass his driving test, find love, have a family of his own. The fact is, we don't know – but then neither does any other parent – we don't know how our children are going to turn out or what the future holds for our families. All that we can do is our best.
The Kabuki diagnosis has forced us to think a lot about what makes us happy and it has opened our eyes to a lot of possibilities. Perhaps Harry will not be academic but he loves rhythm and music, who knows where his talents lie.
To our surprise there is a lot of help and support available if you talk to the right people. We immediately told the manager of Harry's nursery who explained about the SENCAN process and how they would work with us to get Harry the practical help which he will need in his pre-school years and in his transition into school. Our peadiatrician made the relevant referrals to our Education Authority and we now have an Educational Psychologist. We are just beginning to embark on the process of getting Harry some one to one help in nursery. This seems to be a complicated process, especially because Harry is so young to have a diagnosis. We are currently waiting to hear from the SEN panel regarding what will happen next.
We also have a wonderful Speech and Language Therapist who currently thinks that Harry is about 6 months behind in his communication, which isn't too bad and we have started to do Makaton Sign Language with him.Harry has been late in meeting all of his milestones so far but the important thing is that he has got there. He is now walking and while he is a bit more wobbly than his friends he can get around really well. Some of his fiends are chattering away and starting to form sentences where Harry is nowhere near that, but he can get his message across just fine if you listen to him properly. He now eats really well and his reflux is under control. He gets a lot of chest infections and the smallest cold will lead to a run of antibiotics which upset his tummy and ruin his appetite. We have had several stays in hospital with phneumonia and so we are rather careful with him. His horseshoe kidney doesn't seem to be a problem, more of a signifier that the Kabuki diagnosis is the right one.
Yes Harry has Kabuki but there is far more to him than that. He is the sweetest, most loving and friendly child, he is always smiling and he understands so much. Kabuki is part of Harry and part of our family but we can't let it define us. It is hard to keep a positive attitude, especially when we see Harry with his friends who are all doing more than he is able, but we wouldn't change Harry for the world. Paul and I had always thought we would have two children but with Harry being so poorly and my depression I thought for a long time after Harry was born that one would be enough, that I couldn't go through it all again. Harry has just turned two and we are thinking that a little brother or sister would be lovely. We would like Harry to have someone who understands him, who can stick up for him at school and be there for him when we are no longer around. We would also like another baby to complete our family and give us some perspective, to stop us focussing on Harry all the time. We have been told that there is very little chance of us having another child with Kabuki which is obviously a worry. We will have to have cardiac scans through the pregnancy and Im sure it will be worrying but ultimately another child is the best thing for all three of us.
We feel blessed to have our Harry having got so close to loosing him. Although we have missed out on some of the elements of having a bouncy little baby we will ultimately be stronger people. I thank god every day for the doctors who have looked after Harry and for the varied professionals who will help him through his future. We hope that despite his challenges and with the right love and support Harry will grow up into a happy, caring, fun loving man.
Scarlett was born in Huddersfield Royal Infirmary on 7.9.2006. She was 7 weeks early and Weighed 4lb 40z. Initially everything seemed fine. The doctor who had checked her over shortly after the delivery said that she was in good health although her legs seemed to be a little short.After being allowed a brief cuddle she was then sent to the intensive care unit. Unbeknown to my partner Steve and I this was the correct procedure for premature babies.
As scarlett was born in the early hours my partner and I where advised to go and get some rest. We spent the next day with Scarlett, feeding her through a tube and enjoying the occasion. My other children visited in the evening, meeting Scarlett for the first time. I suppose now would be a good time to mention that I have three children from a previous marraige, Alice who was then 16, Christopher 18 and Kirsty 21. Scarlett had completeley taken my partner, I and the rest of my family by surprise.
I had spent the previous week in hospital as my waters had suspectedly broken. Under the assurance of the nurse in charge of Scarlett I decided to spend that evening at home. At 10.am the following morning Steve and I arrived at the hospital. We rang the buzzer on the intensive care unit. Usually the nurse would just press the release button from the reception desk and let us in but this time she came to the door. I could tell instinctively from her face that things where not right. She explained that Scarlett had been screaming all night and although she had been happy to feed at every opportunity she had so far not yet opened her bowels and her stomach was looking very distended. She suspected that Scarlett may have a twisted bowel.
The facilities at Huddersfield Royal infirmary are limited and there are no surgical units for babies. If the diagnoses was right Scarlett needed surgery immediately. The problem was now finding a hospital out of our region with avaialble space. After trying three hospitals St Marys of Manchester agreed to accept Scarlett. She was transported in an ambulance by a team of medics. My partner and I where not allowed to travel with her so we made our own way there. On arrival we where introduced to the proffessional team, surgion, anaethestist and other equally important, but with less stature than the former.
After checking Scarlett over We had a consultation with the surgion and he explained that the part of the bowel that was to be removed was slightly higher than he would have preffered (the higher the more difficullt it could be for Scarlett to absorbe nutrients), but we had no choice and hoped the operation would be succesful. She had 15cm of bowel removed and when she returned from the operating theatre she had as explained by the surgion stomas and a stoma bag (colostomy).
During the initial consultation with the surgion Steve and I where told that it was normal procedure to insert a long line into the babies in the neonatal unit at St Marys Manchester. It allowed the team to feed the babies on a substance called TPN and also if in emergency it would be used to administer antibiotics. The theorybeing that the antibiotics given this way work very quickly. At the same time we where informed of the risks of infection. Catch 22 situation but forever the optimists we agreed. Scarlett was doing well, we where told that the operation had gone smoothly and after maybe four or five days Scarlett was taken off her ventilator and moved from the intensive care unit to the recouperating room next door.
It was the first time for her out of the incubator apart fom the brief moments We got to cuddle her in intensive care when it took the nurse what seemed to be ages to sort out the spaghetti junction of wires. Both my partner and I where excited at not having to look at her and touch her through a plastic bubble.
Parents where allowed to stay overnight at St Marys Manchester if their child was in a critical situation. My partner and I had stayed during the time of the surgery and when the staff where confident that Scarlett was progressing we would make the journey home in the evenings and return the following day. She had been in the recouperating room for aproximately one week. Steve and I where slightly more relaxed, although it was touch and go as to whether or not she was tolerating her food, loose stools, pale colour. We recieved a phone call at 3.am in the morning informing us that Scarlett had collapsed. The nurse who was looking after Scarlett that evening asked us to get to the hospital as soon as possible (this usually means that it is a life threatening situation). When we arrived Scarlett was back in the intensive care unit.
After various tests it was found that Scarlett had a fungal infection in her longline. We where told that the implications could be fatal. It was the most feared infection of the longline. She was promptly administerd the correct antibiotics and we where told that she could be on them for a long time. The longline had to be removed because of the infection and another one inserted on the opposite side of her body. She was very ill. Scarlett is a very brave little girl, she made good progress with the infection and after approximately one week she was moved back into the recouperating room. At a very young age scarlett had already had every scan and every test known to humankind. It had been found previously that scarletts heart was not normal although so far it had been functioning adequately.
Scarletts intolerance of food did not get any better. She failed to thrive and the experts decided that it was time to remove the stomas and rejion her bowel. At the initial consultation prior to the bowel operation Steve and I where educated with all the facts. We where told that if Scarlett was gaining weight and living a near to normal life the stomas could remain for as long as seven years. This was not the case for Scarlett.
I can remember sitting next to Scarlett in the hospital the day the doctor decided it was time for the stomas to be rejoined. I felt that something was not right although her stats where telling a different story. She did not look well to me but I put my trust in the professionals and off she went once again to the operating theatre. My partner and I where waiting anxiously in one of the parents rooms for her return. Finally the nurse came and informed us that the operation had gone well and we could go and see her in a short while. She then returned after what seemed like hours and told us that Scarlett seemed to be having difficulty comming round from the anaesthetic. Then the doctor who had performed the operation came to our door, he looked very panicky. He suggested that Scarlett may have gone into heart failure. It was touch and go again. When we finally go to see her she was in a very pittifull state. She looked at me though the incubator and I actually could see fear in her eyes.
The cardiologist was brought in on her evening off. She assessed Scarlett and gave the doctor a ticking off for doing the operation too soon after the fungal infection.She then prescribed Scarlett with yet another list of medications. Scarlett being Scarlett eventually recouperated enough. The rejoined stomas where a success. It was a revolution when she pood for the first time through her bottom and once again she was moved back into the recouperating room.
Scarlett had been under the sunlamp in the early stages of her stay in Manchester because of jaundice but now it seemed that she was getting yellower every day. She had several tests done and the doctors said that her liver had enlarged and they had no idea why. They suspected that it could be a condition called bilea atresia. After having her liver scanned the doctors where still unsure of the cause of the jaundice and Scarlett was transported to the Liver unit at St James' hospital in Leeds. I have to say in my opinion that this was the most caring and proffessional hospital that any parent could wish for.
After spending two weeks there it was suspected that Scarletts liver had not been able to cope with the TPN-it was too fatty for her liver to break down. She was prescribed even more medications and with the abscence of the TPN her liver started to improve. The doctors at Leeds did not suspect that it was bilea atresia although they could not be completely certain.
As she was till finding it difficult to gain any weight St James' decided that Scarlett could return to Huddersfield Royal Infirmary for one week to concentrate on weight gain and then we could finally take her home. Steve and I where exited at the prospect of being allowed to take her in our car. It was the first time the three of us had been together independantly.
I stayed with Scarlett for one week in HRI. She still did not gain weight. After persuading the staff that they could do no more than I could do at home, they learned me how to administer all the medications and how to insert the feeding tube should it come out. We where finally allowed to take her home. Another catch 22 situation,although excstatic I was also very frightened.
Scarlett continues to frequent hospital visits with various consultants. It was found that one of Scarletts kidneys is much smaller than it should be.
At Christmas 2006 I recieved a phone call from St James' after recent blood tests to tell me that her liver had returned to normal. What a Christmas present.
Although things seemed to be on the up Scarlett caught (and still catches) every infection going, she was always on some antibiotic or other and still failing to gain weight. She would put on two ounces one week only to lose it the next but she was growing in length. I can remember thinking that she would end up like a piece of string.
During Scarletts stay at St james' hospital i had had a consultation with a genetecist. She had asked permission to take photos of Scarlett and asked various questions on family members but nothing became of it.
Since bringing Scarlett home we have had the good fortune of being under Dr Schwartz, paedeatrician at Huddersfield Royal Infirmary. She made an appointment for Scarlett to see another genetecist in he summer of 2007. Scarlett was diagnosed with Kabuki syndrome shortly afterwards. I was told that the board was unanimous.
I have been attempting to complete this story for over a year now. It has been difficult. I agree with Peta, this is a source of therapy. I thank SAKKS for being there for my family. I couldn’t imagine going through this alone, which somany of you have done for several years. I feel a responsibility to get the word out about Kabuki Syndrome, educate the public and let families who are first learning of their diagnosis to not feel alone.
I became pregnant in October 2006. This would be our third baby. I was extremely nauseas, much worse than the other pregnancies; I couldn’t even get into a car. Three weeks were spent sitting on the couch, trying to keep food down for the growing baby. Once I began to feel better, not normal but better I went back to my studies. The plan was to complete my math course and Anatomy before the baby arrived so I would stay on schedule for my ultimate goal, Registered Nurse. I have always wanted to deliver babies into the world and previously worked as a Medical Assistant.
I went along and had the AFP test during my 19th week of pregnancy and went in for an ultrasound at 21 weeks. My husband and I would have liked a boy since we had two daughters already but it really didn’t matter. I could tell the baby was a girl and told my husband my thoughts, the technician agreed and a few moments later she stated she needed to get a doctor. I knew instantly there was something wrong, an actual doctor doesn’t participate in a regular ultrasound! I just started to cry. The doctor came in and informed us the baby had fluid around the left lung. This usually indicated a heart defect although the heart looked okay on ultrasound which could mean there was an underlying condition. He asked if I had my AFP test, which I had. The next hour he went to work to get the results immediately. These results are usually mailed at about 24 week’s gestation.
The AFP was abnormal for SLOS syndrome which is a cholesterol deficiency with slight to severe mental challenges. Next are the amniocentesis and the fetal echocardiogram. Two weeks of just waiting. Going on your normal life, pretending everything was okay. I studied SLOS syndrome and was petrified inside. I didn’t want our daughter’s to sense my fear. Finally, we get the results. Everything was NORMAL.
Wonderful, no more worries right? Wrong! Preterm labor was now striking at only 26 weeks along, while I was in Anatomy class dissecting a cow eye of all things. I went onto bed rest which wasn’t very easy with two other children and a husband who needed me. I was then put into the hospital for a bit over 2 weeks. They sure forced me to stay on bed rest. At this time I got two steroid shots to mature Sareena’s lungs “in case the labor couldn’t be stopped,” and continued on the Trebutaline. They also gave me antibiotics in case there was an infection, they weren’t picking up that it was causing the preterm labor. The blood cultures would take a couple weeks and it wasn’t worth the risk. It all seemed to work. I was sent home at 32 weeks. There was nothing else they could do to stop the labor. I lasted another week. My water broke, no going back.
Nineteen hours later, Sareena was born. She was blue and didn’t look anything like our other girls. My first personal experience with NICU, I just couldn’t believe I was there. It must have been a bad dream. Her head was too small; her oxygen saturation was very low, along with the blood sugar. Then there was the IV’s, oxygen and feeding tube. There was also a sacral dimple with a patch of hair. Spina bifida was mentioned. Neuro Surgery appointments were made. I just kept thinking, how unfair it was to come into the world and get all this. I asked the doctor what was wrong and he couldn’t tell me. I asked if everything would be ok, if my baby would be “normal.” He responded, “Look at her, she is not normal,” and walked away. At that point I lost it. I felt an immediate responsibility to fight for Sareena. What was normal anyway? She was perfect, she was our special gift.
She was transferred to Children’s Hospital where the care was amazing. This facility didn’t try to kick me out at night like the other hospital. My husband brought daily food and clothes. There was a shower and refrigerator in one of the lounges. I would sleep when the baby slept and the nurses would page me every time the baby woke up upon my request. They had the full breast pumps there and I would just pump away. It was the only real thing I could do for our baby. She was still having dusky spells when she ate but the doctors sent her home since we had CPR training. This made me very uneasy of course, but we went along with it. We waited until she was 6 months old to perform the MRI on her spine. The Neuro Surgeon said he would have the MRI done on the entire body since things were just a bit “off.” She was also seen by a Genetic Specialist, nothing was found.
Sareena was behind in everything. Sitting, rolling, all those milestones were months late. The pediatrician of course wasn’t worried since she “was hitting them all, eventually.” I now wish I would have transferred doctors. She had asthma (which she grew out of at 1 year), Croup several times, pneumonia, and RSV twice, along withwaking up every 2 hours for a total of 2 years 8 months. I knew something wasn’t right. Finally getting to a new doctor, nothing changed. Her fingers looked different, her eyes, nose, and ears. I kept mentioning that she was waking up all night long. “You need to get her on a better schedule.” I had two other children; I understood what a schedule was. Then there is the constant diarrhea. Soy, made her constipated. She would go thru 20 diapers a day. When she did actually sleep, I still had to wake up constantly to change the diaper. Her bottom was just raw. I cried changing her diapers. It was so painful. The Gastro and Allergist couldn’t figure anything out either. She was behind a good 910 months developmentally and her tongue would stick out 24/7 regardless of sleeping.
The diarrhea slowed down at about 2 ½ years. We kept changing the diet and finally a nondairy approached worked without causing the severe constipation. Something was off, and doctors didn’t take me seriously. I saw so many doctors at this point. I thought I was going crazy. I must be wrong, nothing was abnormal and I needed to let it go.
February 19, 2007. Sareena had her 10th bout of Croup. I was rocking her in the glider chair with the window open to allow the crisp night air to help the Croup. She had a fever and was given Motrin. As I was holding her I literally felt her little body boil. It made my hands hot. Her leg started to twitch. I ran down stairs with her yelling at my husband to call 911, “she is going to have a seizure I screamed.” Then it happened. Sareena’s entire body was shaking. I knew seizures themselves were not typically dangerous but she was vomiting. Her jaw was locked and I couldn’t clear her passage. As she got bluer and limp I just screamed “no, no, no.” At the top of the stairs I saw Breanna then 5, saying “my sister, what’s wrong with my sister.” The 911 operator is saying not to force the jaw open. I tried to get the jaw open anyway, but I couldn’t. I knew she needed to breath. Her precious little body was now cold. I stroked her hair and kissed her. I said that I loved her and thanked God for giving us this angel. The pain at that moment can not be put into words. I thought of all the families that lost children. I had said goodbye.
The ambulance still wasn’t there. I look at my husband on the phone, crying asking the operator to send help, totally hopeless, his fingers were too large. At that point I figured, so what if I break her jaw, so what if the jaw locks on my finger. With all my strength I opened her jaw. I just knew the force I used had to break something. I began sweeping the vomit out. My finger was throbbing from the locked jaw but she actually took a deep breath! Minutes later the paramedics got there. We were now at the hospital. I could now breakdown. Remarkably her jaw wasn’t broken.
She had another smaller seizure and was admitted to the hospital for observation. An EEG test was scheduled 2 weeks out to give the brain activity a rest before the test. When we did get this test, it was abnormal. The first talks of Epilepsy. Another EEG was done to confirm along with a Sleep Study. Another MRI was also done, it was awesome the first Neuro Surgeon included the brain because we had something to compare the recent MRI with. She had been waking up all night because she was having small seizures that interrupted her sleep. Sareena’s little brain was tired. She was put on Lamictal. The drug and side effects scare us, but the benefit is amazing.
Go figure, the doctors are really listening now. They are calling me personally, asking questions, giving me their private numbers to call if I need “anything at all.” We saw another Genetic MD and that’s were Kabuki Syndrome comes in. Next is a Cardiology appointment; with another normal echocardiogram. An ultrasound was also normalchecking her kidneys. It appears Sareena had KS with the facial features, seizures and developmental delays. She is considered to be on the mild side.
Now reading other KS stories, honestly I can’t complain. I did join SAKKS last year and sort of got involved but then pulled away. I lived in a world of denial. I give you all praise for your strength. We haven’t had to go through surgeries, I just couldn’t imagine. You are all heroes.
Sareena started speech and occupational therapy within the school system. The results are amazing!!!! We have IEP meetings twice a year and she loves going to school like her big sisters. Seeing the improvement at starting this therapy at 3 years 4 months old, I could just imagine if we had an earlier diagnosis. That’s why I have signed on to be the West Coast USA Representative for the SAKKS organization. I encourage you all to tell your story. I would love to have the Regional Center recognize KS to get the help we need prior to becoming 3 years old when the school systems step in. The voice of KS needs to be heard.
Although we have wonderful family and friends, whom I greatly appreciate, they don’t really understand this journey we have been placed on. SAKKS is our extended family. We look forward to expanding relationships with you all.
When we had CJ September 18,2004 he was 3 1/2 weeks early. CJ stayed in the NICU for about 23 days until we got bring him home. His biggest battle was learning how to eat on his own.
He had a feeding tube for about 2 weeks and then he finally got the hang of the suck and swallow motion. My husband Alex and I knew CJ was special from the very beginning. He wasn't gaining the weight he was supposed to be gaining and he had hypotonia.
CJ was about 8 months old when we met with his Geneticist who then told us she was diagnosing him with Kabuki Syndrome. Of course, we were in shock. We had neverheard of the Syndrome before. CJ's geneticist got us some information on KS and of course after reading all of that scary information we freaked out. But to tell you the truth, to this day, CJ has been blessed with very little complications. We are very thankful for that.
The only things he has trouble with is constipation, talking, vision problems (depth perception) and sensory issues such as: combing his hair, getting a haircut, brushing his teeth, and when other children touch him, not adults just children. The hardest thing for my husband and I to deal with is when adults and children make fun of CJ's big ears. It doesn't matter where we go...grocery shopping, the mall, a restaurant, the swimming pool, the park and even church believe it or not, someone always has to point and laugh.
People can be so cruel. At first is was very hard to keep our mouths shut and not blow up on people. Now, we just let it go. I'm just not looking forward to sending CJ to school alone....I really dread that day.
CJ will be 3 years old September 2007 and it has been so much fun watching him learn and grow along the way. Some of CJ's favorite things are music, playing with any kind of musical instrument, the doodlebops (tv show), dogs, dancing, swimming, being outdoors, cuddling, making people laugh, showing off the new things he has learned, being read to, popsicles and his newest watermelon. He is a very intelligent and social little boy and I can't wait to see what the future holds for him. CJ surprises me every day.
In the beginning, I used to sit around, cry and feel sorry for CJ and think how unfair it was for him to have to live a life with KS. Now, I wouldn't trade him for the world. He is so smart and such a joy to be around. I wouldn't know what I'd do if I didn't have my Kabuki Kid. I am one proud mom.
Aubrie turned 11 years old in November 2008. She is a delightful girl with an exceptional sense of justice and love. She adores all things Broadway. Her favourite composers are Andrew Lloyd Weber and Irving Berlin.
From infancy, Aubrie has loved music and books. She would flip through anything with pages: books, catelogs, phone books, TV guides. Now she is an avid reader who enjoys the Little House series by Laura Ingalls Wilder, the Junie B. Jones series by Barbara Parks, and the Ramona series by Beverly Cleary. She listens to music constantly: for fun, relaxation, stressrelease and to fall asleep. Her favourite TV station is the Sirius satellite radio Broadway station. This year, she joined the school band on percussion and performed in her first Christmas concert.
She attends our local school in a regular 5 th grade classroom with a 1:1 aide and support from a special education learning specialist, PT, OT, ST, and hearing and vision specialists. This year, she has a CCTV and a laptop in addition to largeprint books and an FM system. Technology has been wonderful for her! She enjoys many friendships at school although this year she is becoming aware of her differences.
Her birthday party this year was a Willy Wonka party (complete with big brother, Andrew age 17, playing the part of Wonka!). Eight school friends redeemed their Golden Tickets to join us in celebrating her special day.
Aubrie is becoming a competent selfadvocate. In 2007, she participated in a disability rights rally at the state capitol. To the legislators, she presented a brochure sharing her dream for a future in the community for all people with disabilities – rather than the institutional care that is still common in Illinois. She is fascinated with Martin Luther King, Jr. and hopes that our new President Obama will bring about positive change for people with disabilities.
Aubrie has come a long way from the newborn that seemed so sick we wondered if she’d ever come home with us. Aubrie was born fullterm after a complicated pregnancy and delivery. I remember crying alone in my hospital room listening to her cry in the nursery as they placed an IV in her newborn scalp. Those are not the memories we want to associate with the first hours of life.
Aubrie spent her first 3 weeks in the hospital after having thoracic heart surgery to repair a coarctation of the aorta. She was home a short time before being readmitted to spend her first Christmas in the hospital for failure to thrive. She was tubefed until age 1.5 years. She’s had numerous surgeries and procedures over the years for many things including: tear duct blockage, glaucoma, strabismus, hip reconstruction, submucous cleft palate repair, external ear reconstruction, middle ear reconstruction, and BAHA (boneanchored hearing aid). Unfortunately, doctors and hospitals have become a “normal” part of her life. She’s gradually come to realize that other babies and children don’t usually have surgery.
She has worn glasses since she was about 2 years old and got her first hearing aids at age 3. Each time she has had an improvement in hearing (either from new aids, healed ear infections, or ear surgery), her speech has improved dramatically. Her speech still can be difficult for an outsider to understand, but most people who know her can understand her. Speech therapy continues to help her learn to make the sounds that are challenging. Aubrie can eat anything and enjoys food very much. She runs, dances, plays, and enjoys life in spite of the limitations that Kabuki sometimes puts on her.
In infancy, Aubrie was diagnosed with CHARGE syndrome. After many years of involvement with a worldwide CHARGE ‘family’, her diagnosis was changed to Kabuki in the summer of 2007.
In her own words, Aubrie says, “I don’t want teasing and that’s why I don’t like to feel different. I don’t get teased now, but I’m afraid I might. Even though I have Kabuki, I can figure out how to do stuff that other kids do. Whenever we are playing soccer and the ball is coming close to me, someone else usually has it because it’s hard for me to see it. When I grow up, I’d like to be an actress on Broadway. I’d have to live in New York on my own because my mom and dad live in Illinois."
Our Joshua – A Grandmother’s Perspective
By Rosemary Russell, July 2008
A couple of years ago (I was asked to write an article about my experience of our grandson, Joshua, for the SAKKS News. I didn’t – I realize now that I couldn’t because it was too soon and too hard for me. Emotionally it was like trying to hold a beautiful soap bubble in the palm of my hand.From the initial prenatal scan we had been included in Joshua’s life. The joy of his existence alongside the fear for the unknowns and what ifs of his development and survival coupled with a mother’s heartache for the dashing of her daughter’s dreams and expectations of motherhood was almost overwhelming at times. The powerlessness of seeing these wonderful parents grieving some loss already while desperately clinging to hope of misdiagnosis of any syndrome was hard to bear and all of this has taken time to handle.
Joshua is five now and he is such a large part of our hearts. The “what ifs” and “what will he be able to” have been largely replaced with the joy of seeing this beautiful uncomplicated little boy gradually unravel and overcome the bindings of physical and developmental hurdles.
My heart leaps when I see him climbing the slide or running to greet me with open arms! As I write this I find myself defrosting from the tear ducts. Joshua has taught us so much about life. He says it exactly as he sees it – no guile, no hypocrisy.
I grieve when I see him overlooked as he struggles at times to express himself but he doesn’t grieve – he loves life!I am sometimes afraid when I wonder what the future holds for him but he loves and lives each day as it comes and he is teaching me to do the same. Joshua’s moments in the sun bathe us in light. Last Christmas he was overlooked by a probably exhausted Santa, who couldn’t really make the effort to try to understand his words. However, Joshua quickly detected an accent and clearly asked Santa whether he was Italian. Joshua then proceeded to greet him in the home tongue of his Nonna and Nonno – “Commestai,bene bene bene”!
Again, last weekend his disgust was audible as he corrected Aus Opera when Cindarella’s stepsisters were given different names to those he was used to! Our friends love Joshua stories and his beautiful Mum says there isn’t a day when he fails to make her laugh. Our admiration for our daughter and son-in-law is overwhelming – their palpable love, patience and encouragement are inspiring. This is especially so when I know that they are often exhausted and pushed. Their love and commitment have helped this wee man become such a blessing to our family.
To say we wouldn’t change a thing would be a lie – but we wouldn’t wish to change the essence of this beautiful soul. I still feel sad and frustrated when people don’t take the time to appreciate him but that’s life and we really feel that its their loss not our’s nor Joshua’s. In the meantime, every achievement Josh makes is triple joy to us all – we don’t take anything for granted and tears of joy flow more readily than tears of loss.
By Peta Colton
Zachary has Kabuki Syndrome.
At 10 weeks I discovered I was pregnant with twins. I remember spending the next hour laughing from shock. The following weeks were the usual twin pregnancy morning sickness, cravings, and anticipation of an expectant mother.
At 19 weeks a routine ultrasound showed that twin 2 had a cleft lip and pleural effusion. Our doctor broke the news gently and then told us that the baby had a good chance of being Down's syndrome. I was devastated.
We asked the doctor for an amniocentesis and he performed it the next day. We were then informed that we would have to wait up to a month for the results.
Time stood still, and an overwhelming feeling took over our lives. After two weeks we began daily telephone calls to our doctor to see if the results were in, and at day 21 we were told that they were but our doctor was away, and she (receptionist) couldn’t give them to us. My husband jumped into the car and headed for the surgery. Once there the receptionist said that the notes were on the desk and she would look away; I guess the sight of a man with tears in his eyes was too much for her to ignore. He read the results and came home. He was crying and smiling at the same time - I knew the news was good. I spent the next few weeks very uncomfortable but content knowing that my fears of having a child with Down's syndrome weren’t an issue any more.
My next appointment was with a different doctor because mine was away. He seemed a little concerned about the growth of my tummy, (I was 31 weeks at the time). I assumed my little bubs were content and growing well. While we were leaving he asked me to go and have an ultra sound ASAP, and the next available appointment was for the next day. This ultra sound took 2½ hours and eventually the lady performing the scan said “I am not supposed to say anything, but your baby is very sick”. The radiographer told me to wait while they rang the doctor, who told my husband over the phone to get me to the WCH, (Women's and Children's Hospital), as soon as possible. So much inside you just shuts down. Like a feeling of numbness. On arrival we were shown to a suite where the bustle of nurses was just a dull noise as my heart was breaking. Our doctor told us it looked very grave. I had nothing to say to any one including my husband. A spinal block was inserted and the Caesarean Section commenced. Twin 1, our little girl Hannah was born first and I couldn’t believe how small she was, then twin 2 next. I so vividly remember laying there wishing to run after the babies that they had pulled from my body, but I couldn’t move. Instead I lay listening and anticipating the cries of new born babies, but they didn’t come. The next thing I remember was incredible pain as the spinal block failed and they knocked me out. When I woke I remember them fussing about my blood pressure when all I wanted was to find my babies. Hours later they offered to take me to NICU so I could see Hannah and Zachary; I looked at Hannah she was small but I wasn’t worried. Then I met Zachary…
My world changed that day forever.
I cant explain the pain I was feeling, but it was a combination of fear, loss, and grief - and still now 8 years on, I don’t let myself remember. But it is still there.
The day you enter NICU nothing can prepare you for the roller coaster journey that follows, as a series of steps that lead you to here, this day. I spent the first 10 days as a patient at the hospital, which allowed me to spend every minute with the twins. Hannah graduated from NICU, to SCBU 1, but decided on another short stay back in NICU a little later. The first priority for Zachary was to drain the fluid that filled his body and chest cavity. So many drains, so many tubes, so many probes, and machines that went beep.
Expressing milk gave me something else to think about every few hours.
Zachary was on a ventilator and a zillion drugs to keep him going, and after a few days it was necessary to do a complete blood transfusion, and I was firm about being present for this procedure. I am an idiot, because it was the worst thing I have ever seen. One syringe of blood going in, one coming out. After 2 syringes, I ran from the room crying. This procedure was successful and his next achievement was going to be to poo. He also had a haematoma.
The time had now come for me to go home and leave my babies behind. It was the hardest day of my life. My husband sat at the wheel and my two beautiful daughters sat in the back and I howled all the way home. I cried and cried. I remember pushing my girl’s beds together and sleeping in the middle that night, but my husband Adrian needed me too.
Next was a routine of getting up, putting breast milk on ice, dressing and feeding the girls, and going to the hospital. Our girls were part of the furniture in the hospital crèche, and their world had changed significantly too. One particular day, I remember skipping into the hospital with Adrian after being told Zachary had finally poo'd. After walking through the doors with big smiles we were asked into the doctor’s room for a chat. Our happiness was short lived because we were then told our little man had a coarctation of the aorta. They would keep him alive with hourly doses of Prostin, and when he was at least 2 kilos, he could have surgery to repair his aorta. Zachary was tiny because amongst all the medical complications that I can’t remember to list, was NECH (a necrotising bowel disease) which hindered his growth even more.
After about 5 or 6 weeks, we were finally allowed to bring Hannah home. Unfortunately this was short lived too, Hannah couldn’t stop vomiting. Her vomits were so strong they could hit the wall on the other side of the room. Funny enough, the last subject I had studied was Pyloric Stenosis, so I was the first to diagnose her, but we let the doctors do that formally. Back to hospital for her. Hannah had her surgery, as did our eldest; our five year old had her adenoids out at a different hospital. I was taxiing breast milk and my love and mothering between 2 hospitals; 3 separate wards at the same time. Any other parent in my position at the time would say the same thing; there is no time to think about it all; just get on with it.
I decided to take advantage of the new parent’s suite, mainly so I could be close to the twins together if only just for one night My role there was to just be with Hannah in a room, with advice at the ready in case I needed it. I didn’t. After little sleep I woke up with Zachary’s cardiologist standing near my bed. He told me that we (Adrian, myself and Hannah) were booked on a flight to Melbourne’s Royal Children's Hospital for Zachary’s heart surgery the following morning. Zachary wasn’t 2 kilos yet but he never would be if he didn’t have the surgery. Our girls stayed with my parents.
A completely different set up – Adrian flew with Zachary on Air ambulance and I went on a domestic flight with Hannah. Upon arrival, I was told that I would have to breast feed Hannah in the toilet - some people find it offensive, so you must not do this in public. Eventually found Zachary, in a general ward, with no oxygen, and no nurse. We were frantically explaining to all or any who would listen, that Zachary was from an intensive care unit where he was in an oxygen tent, with his own nurse. His nurse in Melbourne had 3 other children to look after and told us this is the way it was, and that after his surgery, he would go to the cardiac unit.
Have you ever been so scared and frustrated that you could have pushed brick walls down?. Prostin had to be given on the hour every hour, (it was keeping him alive). “Has he had his prostin?”, we would constantly ask. This meant we didn't want to leave him for a break, so we took turns. That is, of course, when I wasn’t in a breast feeding cubicle. Zachary had mucous plugs that stopped him from breathing, so he needed constant suctioning. When he had his own nurse in Adelaide, she was never idle. We explained this but I guess they had to find this out for themselves. So when Zachary couldn’t breathe, a very panicky nurse arranged for Zachary to have his own nurse. When the doctors assessed that this would be the best he could be for the surgery, they scheduled him in - 3 days after our arrival. The surgery went well, but his blood pressure was a worry. After 10 long days we flew back to Adelaide.
Zachary spent a couple of days back in NICU, then graduated to SCBU 1, where his health improved little by little. He would soon have surgery for his hernias and undescended testicle. One of the other complications for Zachary, was his cleft lip and palate. He did not tolerate any oral stimulation and could not suck. He was fed through a naso-gastric tube. I was approached by the doctor one day and asked if I would be okay with taking him home on N.G. feeds. On reflection I think they sent him home to die.
We brought Zachary home, and he shared his new room with Hannah. Two beautiful babies in two cots. It was hard mentally and physically. After feeding him 2 hourly, 24 hours a day, we went to a little more volume of milk during the night and 3 hourly. Still with every night feed, he managed to pull his nasogastric tube out, which meant reinserting it with bleary eyes. After feeding him, a lot of the milk came back up, so then we had to clean him and the bedding before going back to sleep, only to start over in a couple of hours. It was better to give him less volume more often, but the hours were killing us. We did the feeds together because he pulled at the tube and it needed to be in the right place. Reinserting the tube was my job, and I often needed more hands - especially when he had the oxygen tube, the nasogastric tube, and often required suctioning as well.
As you can imagine, with the two of us feeding him so regularly day and night, there was little time for anything else - especially dishes which were piled 5 feet high. We thought we were lucky when a volunteer came. She was asked to spend time with the older kids. Unfortunately this didn’t work out, and discontinued after a couple of visits. We also had the support of the Multiple Births Association - 3 hours a week of respite. The respite worker was a beautiful person who bonded quickly with Zachary. Most of the early days we didn’t go out because Zachary was just so complex. I guess I was lucky that I had older children, so I wasn’t a new mum, and the usual scary things weren’t an issue, but I must say that the challenges of Zachary were sometimes unbearable. One of his big problems at this time were kidney gravel or stones, and his nappy was often full of blood. This can be very daunting, and our usually placid happy boy was in agony when they happened.
Adrian and I kept a recorded a chart of fluid in and out, any bowel action and respirations. Zachary’s respirations were too fast, and he was constantly turning blue. A cayhs nurse left my house distressed when he had turned blue in front of her, and all I could tell her was that they know but are not concerned. Several times we took him back to hospital, and several times after 2 minutes of observations they said he was fine. One day they admitted him to do an over night study to see if he was refluxing. It was decided, (apparently to give me reassurance or shut me up), to send him home with oxygen.
It's interesting to note though, on a routine check up, his saturations dropped to less than 70% when I removed his oxygen tube whilst he had the monitor on. This was noticed by the doctor, and he was kept on 24 hour oxygen therapy. On Good Friday, whilst visiting my parents, we rang the doctor to tell him our son was very blue. He told us we could come in, and we did. A chest x- ray showed that he had inhalation pneumonia - caused by his very severe reflux. He was very sick. After he was over the pneumonia, it was decided that Zachary needed to have a feeding button, (gastrostomy), surgically inserted into his abdomen.
A Nissen Fundiplication was also performed. This is a wrap of the top of the stomach, to stop gastric acid from going back up. We were told that our son had very serious reflux, but there was a mix up with the results of the overnight study – so no one ever knew.
On Sunday, we were having a lazy morning in our pyjamas when the phone rang. It was the surgeon who performed the operation. We were informed that Zachary was acute, and he had peritonitis. When they put the feeding catheter into his stomach it had travelled down into his duodenum and out into the pelvic cavity. Consequently he was fed into his pelvis for 3 days.
On our arrival Adrian and the girls talked to the doctor while I ran into PICU. He lay limp on the bed while doctors and nurses were busy doing what they do. His tiny veins had shut down, and the doctor’s hands were shaking as he probed and probed for a vein to put the lines into. At one point he asked me to help and make him cry… he was hoping to stimulate a vein by doing this. Zachary didn’t, he just lay there speaking to god I imagine. I couldn’t and wouldn’t move, I needed to be there. There wasn’t any time left, so without any lines in they rushed him to theatre. He returned to PICU after the surgery and was very sick. I can’t believe we nearly lost him again. We had meetings but no body could offer us an explanation as to why this happened. A week or so passed and we brought Zachary home again but this time without oxygen.
But he now had severe diahorea that never stopped. It was so bad that his backside was raw, and we kept him on blue sheets instead of nappies. We couldn’t go anywhere now, we tried but it just didn’t work. We also had an apnea mat that went beep, and a kangaroo pump which fed him constantly through the night.
We were scheduled to have his first lot of craniofacial surgery. That morning I said to Adrian I didn’t like the look of Zachary. His colour was off and something felt wrong. We took him in that morning, and told the nurses to use a blue sheet instead of a nappy, explaining that ever since his peritonitis he had constant diahhorea. I then spoke to the anaesthetist and told him my concerns about Zachary being ‘off’. He rang our paediatrician who said “if mum’s worried, run some tests”. Sure enough, they discovered that Zachary was severely dehydrated and needed urgent fluids in a high dependency ward. The doctor spoke to me later and said Zachary would have died in a few hours if he wasn’t treated. How close again.
It wasn’t too long before he was back to hospital for the first of his craniofacial surgery – they repaired his lip and inserted grommets into his ears. When I finally saw Zachary’s new mouth I was a little torn. This little man looked so different now. Very cute, but I had become so used to the way he looked and at first I wasn’t sure if I liked the new him. Our brave little man didn’t bat an eyelid, never grizzled was always happy. Eventually after months of enquiries I had the services of physiotherapy, occupational therapy and speech pathology. They came to our house weekly and fortnightly with advice and help.
The diagnosis of kabuki syndrome happened around this time. While we were seeing the gastroenterologist, he happened to mention that the pit in Zachary’s bottom lip looked like one he had seen before on a child with Kabuki. That night we were talking, and I asked Adrian what was the name of the condition the doctor mentioned today and he said he thought it was something like kabuki, so we turned to our smart friend; the internet and typed in the word we heard that day - the same word that has impacted on our lives for 13 years. It was so quiet as we read the synopsis. This was our son, and up until now, our son just had some medical problems; he was going to be alright eventually. We quietly agreed that this condition was a possibility. When I rang the hospital it was going to take five months for an appointment. We already had one for Zachary’s pulmonary specialist and when we spoke to him and told him all that we had learnt, we asked him at what age can you tell if a child has a intellectual disability. He looked at us and quietly said -now.
I was fine, just another hurdle, but I wasn’t. Not really. I was grieving the son I had lost. Even though I loved this little man with my whole heart, I had to let go of the son I thought I was going to have. A little therapy would have been a good idea at this stage. But I was too busy, (4 kids under 5), and with a little boy I wanted to help be the best he could be. I couldnt fail him. After making an idiot of myself in the genetics department, ranting and raving about seeing a geneticist, and that the 5 month wait was inexcusable etc, an appointment was made for a couple of days time. It was really just a formality, and I think they knew the answer before we arrived.
The diagnosis was confirmed and Zachary's notes were stamped with Kabuki Syndrome. We told our family and friends and I only lost it once whilst I was telling my brother that Zachary is intellectually challenged. His response was, “don’t worry - these kids are always happy”. Funny enough, it made me feel better. We had a corner chair for Zachary because he couldn’t sit up. Children with Kabuki syndrome are floppy and have low muscle tone. He didn’t walk until he was 2 -3, and we were constantly helping him. I gave him thick crayons to hold on to, and this helped him use his thumb. Basically, children like Zachary need to be taught everything that children normally do instinctively. Crossing one leg over the other to teach him how to roll. Using hands first to teach him to crawl. Holding his hands against furniture to teach him to stand.
Reading this, you must ask what about Hannah his twin sister? Hannah was an amazing baby. I took her to the doctor when she was a baby because we were concerned that she wasn’t awake enough – remembering that she was born at 31 weeks; she had haemolytic anaemia, a pyloric stenosis, and a lazy bowel. When she came home from the hospital she slept from 8.00 pm to 8.00 am, which given my previous experience as a mother, made me think there just must be something wrong with her. After explaining my concerns to the doctor, he wheeled his chair over and placed his hand over mine. In a quiet voice he said “its divine intervention”. Fair enough!
My priority was to help Zachary be the best he could be, and without help, I did this every day until he started school. To help Zachary cough, I pushed his trachea with my finger, eventually he did this on his own. The biggest mile stone was eating - he just hated anything in his mouth. He arched and screamed when we tried, but I pictured him at lunch time at school being fed through a tube while others ate. So for many hours every day, we worked on swallowing and eating. It was the hardest thing I have ever done, and I remember thinking at the time that it would never end. It did.
In the beginning I would wrap him tightly in a blanket, and using several towels, I poured and poured bottles of formula into his mouth. Very little was ever swallowed but I still persevered. After a few days I introduced my special meals... vitamised peanut butter sandwiches, formula and vitamins. Sometimes they were vegemite, and sometimes Tom Piper blended with formula. Yum.
I changed my clothing at least 3 times a day, because not much of this glop and formula actually gets in. He still screamed and screamed and screamed, and it was exhausting, but every day more and more was being swallowed. A bean bag was perfect, it gave me an extra arm, and I still wrapped him to prevent him from covering his mouth. His improvement was being helped by his hunger (I was now spending more hours a day on this). I would sit him on plastic with all sorts of food to play with, and one day I put a big bowl of spaghetti bolognaise on his lap and he picked it up with his hands and yes - it was going to his mouth... and yes - he was putting it in! Silence and anticipation gripped me as I watched the handfuls of wiggling strands of spaghetti - and yes, they were going in. He repeated this until it was all gone. He had independently eaten all by himself. It finally happened he was enjoying food. Now the bit about this that bothers me the most, is that I didn’t cook the pasta, Adrian did! We look at Zachary today as he asks for seconds at the dinner table, and it’s hard to imagine any of this!
I imagine I helped him with everything a thousand times, as like all children with syndromes like his, he can do it - but it takes a lot longer to learn. I remember thinking in the early days that Zachary was unable to learn naturally. For example, babies usually learn all the basic stuff on their own, but I had to teach Zachary everything.
To help Zachary with his speech, we spent a lot of time sitting in front of the mirror sounding out letters, and I would get him to talk and watch his mouth in the mirror. Actually, speech was just as much hard work as eating. Until he was five he was completely incomprehensible, so lots of hours were spent teaching him sounds. We learnt and used sign language too.
Zachary and his twin Hannah started kindergarten. We were lucky enough to find an excellent place not too far away. The Director, “N”, was the most fantastic lady. There were a couple of other special needs kids there - one with cerebral palsy and another with a rare condition. I found it amazing the natural and almost instant bond that formed between the kids. The little girl with cerebral palsy - I’ll call her “N” too, was Zachary’s first girlfriend.
This was my first taste of red tape and government legislations I didnt know existed, and I will talk about these later. It is probably around this time Zachary had his next lot cranio facial surgery. We decided that whilst he was having his palate stitched that he would have his ears pinned and nose redone and the pit in his bottom lip removed. We felt a little mean for doing this to him, but his ears stuck out and it was just another barrier to him being socially accepted. After the surgery he was his usual happy self and he was home the next day and around two weeks after the surgery Zachary’s bandages were removed and his new nose and ears looked good.
Zachary continued to do well at kindy. Ultrasounds revealed Zachary’s kidneys were not it top shape, however. One of his kidneys is ectopic, which simply means it’s in the wrong place. It is also very small and didn’t appear to have grown. The other kidney is larger than normal, (to compensate). Both kidneys have nephro calcinosis, which means that the nephrons have calcified due to the large amounts of diuretics given as a baby. Both kidneys are covered in tiny cysts also. We will have to keep an eye on them and regularly see a nephrologist. We have an ultrasound at least once a year, as well as urine and blood pressure tests.
After sucking as many hours as possible from kindy, it was now time to battle the system and find him a school. The director “N” and I felt that Zachary was half way between a special class and mainstream school. The first school with a special class that we visited was horrible. The teacher, (who seemed special needs himself), had the children including Zachary sit in a circle roll a ball to each other and say the name of a piece of fruit. The first child said orange so consequently all 12 repeated orange without any intervention from the teacher. I questioned him about daily activities and they were all pretty much like this. Meanwhile I had rang around and found a school with a headmaster who had a great philosophy.
The education department sent a letter stating perhaps I didn’t know how the system worked... Forget choice - they had to choose for me! An interview with Zachary’s sibling’s school demonstrated that there was not any support funding for private schools, and because of this, their school wasn’t an option. Finally another school with a special class was visited. The children were beautiful and the teacher seemed fine.
First day of school - all captured on video with smiles and excitement. Not long after he started at this school, many things were not sitting well with us. They would make him toast with nutella every morning to help him gain weight, but fatty things like butter and nutella give him diahorrea, and therefore lose weight. He would spend most of the school days, (every day after lunch), playing freely in the kindergarten that adjoined the school. Zachary needed twice as much work to challenge and teach him. Zachary was also copying the negative behaviours of some of the children.
I then enrolled Zachary in the local public school. He gained excellent social skills and physical strength at this school, but Zachary missed his siblings, so another attempt was made to get him to the same school as his twin Hannah and older sisters Chloe and Holly. We discovered that due to funding changes that we could enrol Zac into this school. We were delighted with this school, they were wonderful with him and worked on fine and gross motor skills daily, thanks to volunteers and staff; they had Zac catching balls after a few months, and this once wobbly and fragile boy was running around the court yard. He was able to read almost at his own age level.
Zac continued to blossom at school, he didnt have any more medical emergencies and continues to make us smile.
We wouldnt change Zac, he is perfect to us and we are richer for having him.
My journey began in November 2007 after successfully gaining a placement for the practical side of my teaching. I started the teaching course with the usual worries would I manage and a whirlwind of what ifs that drove my poor mum and dad to distraction!
The first day was greeted with butterflies and welcomes backs from my carers and friends and told I would be testing the lift that was to take me to class to learn to be a teacher.
I remember making friends with one lady who was older than me in fact everyone was in class. The class started very quickly with loads of information to take on board and boy was it like information overload from beginning to end that day!
The homework given to me was like language from another country and even harder to write, dad really helped me with it because I would I assure you now I would have walked then but I’m made of sterner stuff and parents who can kick butt when needed!
The practical side of the teaching was fantastic and something I will always remember I learnt a lot about myself and realised what I wanted to do with my life was what everyone as always said.I want to teach Special needs people and see them achieve their dreams and goals in life.
The day I passed the course was the best days of my life never in my wildest days will I ever forget.From going from a kabuki kid told all she would be good for is sewing and she isn’t any good at that and just laughed for wanting to be a teacher to being her dream of a teacher is well the best achievement ever!
I could never have done it without you my friends and my family and want to thank you all so much!
What an eventful 11 years we have had so far in our beautiful girl’s life.
I’ll start at the beginning when I had a problem free pregnancy and then labour started. From that moment on our world would change forever. We had a very distressed baby which was born by natural means with an Agpar score of only 2. She became stuck during the birth and didn’t breathe for the first few minutes of her life. The first thing we noticed was her club foot which we were told could easily be corrected through casting. 3 days later she had a temperature which remained for 2 days so we were sent to the children’s hospital in the neonatal section for a further 2-3 days.
She came out in a rash we discovered was only a viral infection. During her stay in the children’s hospital they did some tests on her and discovered that she had a horse-shoe kidney and 2 dislocated hips. She also had a hemi-vertebrae which was causing mild scoliosis. We were devastated as this was our first child and had no idea what we were facing. At 8 weeks old she had her first major hip operation which proved to only be partly successful. Her club foot and hips were all plastered for a duration of 6 weeks. She suffered terrible colic each day and were unable to help ease her pain due to plaster coming up to her stomach. One hip is more deformed than the other and required surgery 2 months later. Meanwhile we were struggling with her sleep and feeding problems. She also required glasses due to a lazy eye for a couple of months. The first year of her life was spent in a beanbag but was very happy.
To cut a long story short she had a tendon transfer performed on her club foot when she was 3 and did not walk until she was 4. Her speech also did not develop until she was approximately 6 years old. She was not toilet trained until she was 6 also. She attended normal kindergarten and pre-primary and is now in an Education Support Unit. We are still going through numerous femoral osteotomies on her hips and have just recently in January 2006 had a pelvic osteotomy which required 10 weeks in a wheelchair (after one pin became loose and we were back in hospital!!). Oh what fun!!! She has the short stature so is the same height as my 6 year old son so is still easy to carry. We have been wearing back braces for the past 4 years as her scoliosis is slowly getting worse and will require Harrington rods when she is a little older. An operation that I am not looking forward to!! At present her scoliosis is at about 60 degrees which is not too good. Our main goal at present is to get her hips right and another operation on her worse side is scheduled early next year. Chloe only has a mild intellectual handicap and is becoming aware and asking a lot of questions about why she has to go to the hospital so often. Her happy nature and strong will is what helps us all get through each drama. Her feeding difficulties have corrected themselves and her speech is excellent now even though she does tend to speak nasally. She has low muscle tone which requires Physiotherapy and Occupational Therapy on a constant basis. She is also loose ligmented. She wears glasses for short-sightedness. After recently seeing a Geneticist after a 9 year break, she is now certain that she has Kabuki syndrome because of her facial features (big beautiful eyes and eyelashes) and large ears and her other attributes. It was a little bit of a relief to find that there was actually a reason for her many problems that she has to face in life and that they are all linked. I am now a Special Needs Teacher Assistant because of the many lessons that my daughter has taught me and I have a better understanding of children’s development. Sorry for the long story but feel we have only just begun!! Would love to hear of anyone else out there that has similar problems.
Hi. My name is James.
I was born in Ipswich, Queensland on the 2nd of July 1988. At this time the doctors found I had a serious heart condition but none of the doctors could find the reason why. I was taken to the Prince Charles Hospital at Chermside where they operated on me when I was just 4 days old.
I had a shunt put into my left shoulder which unfortunately failed, so they tried this again when I was twelve days old. I was transferred to the Mater Children’s Hospital for tests to find out what was so wrong with me. At this point I had no swallow reflex so I had many tubes coming out of lots of places. Then another ambulance ride back to Ipswich Hospital where my parents asked the doctors about a peg feed set up. The doctors said it was a risky procedure and I did not have a high survival rating at that point. So, they decided not to go ahead with it.
Some days later while my dad was at work one night he heard on the radio how a child in Sydney fell off his motorbike and received medical attention from the Camperdown Children’s Hospital. So my dad got into contact with them as quickly as possible, at which point he told them he was from Glenn Innes NSW. The Camperdown Hospital offered their expertise and my father drove me all the way to Sydney where they found out why I could not swallow. So they told my parents to bring me back in two weeks and they would operate on me.
After my opp they told my parents that I would be able to eat by the time I was 3 years old., and I was.
Then one year later, my baby sister was born. I was 4 by this time. A few years later we moved to Newcastle which is 2 hours from Sydney and we were there for three years.
In 1996 I went to the John Hunter Hospital where they told my mum I had Kabuki Syndrome. It was a very rare condition at the time and there were only 89 officially diagnosed cases of Kabuki in the world. This was the beginning of my Kabuki Journey and finally Mum and Dad had some answers about what had been going on with me since I was a baby.
In December 1997 our family moved to Kingscliff NSW and after another move a year later, Mum, myself and my two sisters moved to Hervey Bay where I started school at the local special school. I had a few years trouble free until I had a heart operation in June 2002, I had to have my sternum wired back up. About a year later the wires broke and I had to go back into surgery and have it done all over again!
In December 2005 I dislocated my left knee-cap outside Suncorp Metway Bank in Beaudesert. I was taken to the Beaudesert Hospital where they x-rayed my knee and then said I would be a bit sore for a few days. But, two days later my knee dislocated again! I went to see my doctor and she wrote me a referral for an appointment for the orthopaedic surgeon at the Logan Hospital. While I was waiting for my appointment, GUESS WHAT HAPPENED?! So I went to the Logan Hospital to the emergency department and after a few visits to a couple of doctors it was decided I needed a knee operation.
After my knee operation it was decided that I should take the rest of the school year off. After I decided not to go back to school I had to find something to do so I started at St Mary’s. St Mary’s is a care provider for aged and disabled people; I had a carer and spent a few hours out and about doing all sorts of activities. Also I started at Beaucare Aged and Disability Services where I would go tenpin bowling on a Monday with a group and on a Thursday we set out on lots of fun trips. Eventually I also started a Wednesday group where we just socialised.
During this time I got a family support package I also got a post school package and this led me on my journey to TAFE.Now I am 19 years old. I live with my dad Peter in a small country town of Beaudesert, just south of Brisbane QLD. I have been attending Metropolitan South Institute of TAFE for 12 months doing numeracy, literacy and also a computers course. I like going to TAFE because I like the students and the teachers and also the chips and gravy that I buy from the canteen!
I would like to thank a few people who have helped me over the years, Prof Dorothy Radford, my Dad and all my good friends who have supported me.
I suppose I should be more devastated than I am, but for so long my husband Chris and myself have known that all was not right with our precious little girl. For us, diagnosis is a relief more than anything else. We finally know we are not crazy, that there is a problem and now we can move on and use this information to help Holly become the best she can be.
Since birth Holly has been plagued with health issues: cardiac abnormalities, feeding difficulties, global developmental delay, low immunity, poor growth, reflux, eye problems, food intolerances, behavioural issues – and the list goes on!
Like most of you guys with KS kids, I thought Holly was just having ‘a bad run of things’ and had convinced myself that she’d be ok given a bit of time. I watched with envy all the other mothers in my mother’s group and their seemingly ‘advanced children’ and listened with hope as they reassured me she was just a ‘late bloomer’ when it came to all those milestones. I also watched the looks on their faces as time went by and Holly didn’t ‘bloom’ but got further and further behind. They were looks of pity and confusion; people don’t know what to say when they don’t understand something, so instead they just stare. A nurse I spoke to one day about it said the other mothers would never say it out loud but privately they were probably thinking: ‘thank God it’s not my child’.
I got to the stage where I’d come home after a mother’s group get together and bawl my eyes out for hours, sobbing to my mum and Chris about how far behind the other kids Holly was. I loathed going to playgroup and hearing about all the kids’ achievements while my child struggled to do the simplest of things, basic functions that were meant to be innate and Holly had no idea. I convinced myself that it must be my fault because I was her mother and I should be able to teach her these things, but I couldn’t, I was trying but it wasn’t working. I started to make excuses why we couldn’t attend this play date or that birthday party, anything so I didn’t have to see the pitying looks.
When our paediatrician first suggested Holly might be intellectually disabled I dismissed him as an idiot and insisted on a second opinion. How dare he say that about my beautiful child, what did he know, he didn’t even have children of his own! The second opinion we received was much more optimistic. This doctor, an older more experienced paediatrician, was of the opinion that if Holly was 12 to 18 months behind the other kids her age, and that gap didn’t widen, then would it really make a difference when she got older? He raised his eyebrows at the other opinion and said ‘who are we to gauge a child’s full potential?’ We were satisfied with this viewpoint (of course we were, it was what we wanted to hear!!!) – so Holly wasn’t a genius, so what?
We decided to sit back and adopt a ‘wait and see’ attitude. In the meantime, just in case by some strange stretch of the imagination we were wrong, Chris and I started to access various therapies to help Holly catch up to her peers: occupational therapy to improve her gross and fine motor skills, physio to improve her balance and coordination, speech pathology to encourage better communication, and other things too numerous to list. We were convinced Holly would eventually close that gap; prove the sceptics wrong and all would be resolved.
Denial is a wonderfully useful tool for us as parents, it allows us to switch off and preserve our own sanity. It is however very dangerous when the future of a child is at stake. I am thankful now that we did access early intervention therapies because I am certain Holly would have slipped further behind had we stuck our heads in the sand and waited. So while I say we were in denial, secretly we knew Holly wasn’t like all the other kids we saw and that she needed help. It has been a long and tiring road so far with our little ‘muffin’ as we call her, and Chris and I no longer take for granted what many other parents may. Every small achievement is celebrated as though it were an Olympic medal effort. I marvel at Holly’s younger brothers and how capable they are in comparison; I believe their presence helps her to expand her knowledge and the bond she shares with them is amazing. She copies them, Zach especially and it’s good because it teaches her fundamental things she may have missed out on earlier in her development.
Towards the end of the year Holly will have to start her transition from kindergarten to school and this is a nervous time for us as Chris and I aren’t sure she’ll be ready in time. We are in the process of toilet training her; there have been other more important health and development issues that have taken precedence over toileting so we are way behind in that respect, but we’ll just take things one day at a time.
I think that’s all we can do as parents of KS kids, take things a day at a time. Yes it’s hard, yes it’s exhausting – but we carry on because we have to. We are the doorways through which our children will find their way to a better life.
I am Silvia, the mother of Nina.
Nina is 8 months now and I’m still overwhelmed by her presence in our lives! I cannot remember well how life was without her. Nina is our first daughter. My husband and I kept our relationship between 2 countries for quite some time. I’m Brazilian and he is German. Since we were both freelancers, it was not difficult to organize our schedules to spend time together in 2 different continents.
I came to Germany for the New Year’s Eve in 2007 and we came back together to spend the summer in Brazil. I stop taking my pills after I made a mess with the jetlag, and told Thomas (who always wanted a child) I would start again next month, if I got pregnant, it would be ok, but I did not believe it would happen. 5 weeks later I had my first ultrasound! It was one of the biggest moments of my life, everybody knows how strong it is to hear your baby’s heartbeat, but when it happens it’s impossible to describe how great it is.
We decided to get married and have the baby in Brazil, but we figured it would be better to move to Germany so I could take care of the baby and my husband could keep working. My pregnancy was wonderful. No problems, just fun. I was alone most of the time while Thomas worked in Switzerland and China. He arrived a few weeks before she was born and we got married when all the papers were done.
I was already 39 weeks and no sign that Nina wanted to come to us! The exams were all ok. When I completed 40 weeks we repeated the doppler and something was wrong. When the doctor at the lab asked “Who is your doctor?” my heart almost stopped beating. He explained to us that my baby sent an “alert sign”, she was sending more blood than usual to her head and it meant she was saving oxigen. He thought we should not wait anymore. That night was awfull… I was terribly scared. Next day in the morning my doctor, Thomas and I agreed that I should go for a cesarian. At 9 PM Nina was born. She cried a lot and stopped as soon as they put her in my arms. Everything fine, big emotion… The apgar was great, and a few minutes later my doctor explained that they found out I have an uterus septus and Nina had her head turned to the back, probably because there was not enough space in the last weeks and that was the best position she could find. But everything was ok.Her first day was good, she was beautiful and very different from the other babies! Full of blond hair, huge chinese blue eyes. She slept all the time and I felt the happiest woman in the wolrd. My husband was in heaven.
Our problems started in the second day. She wasn’t able to drink and a sequence of misunderstandings, things said in the wrong way, transformed what should be perfect into a nightmare. During the night Thomas went to the nursery to take a look at Nina and she wasn’t there. Someone told him she was at the second floor with another doctor so he went downstairs to look for her. The doctor told him she wasn’t able to drink because there was something wrong with her chin, it was too small. I don’t know wich words he used to a foreigner, but my husband was really scared when he came back. I tried to contact this doctor to understand what was going on, but he didn’t come. They sent a nurse instead, who accidentaly said “we don’t know if there’s any relation with the big eyes and the chin”. I asked “ what do you mean??” and she gave me some confuse answer, and I noticed she said more than she should. We couldn’t sleep the rest of the night. Nina had to spend many hours receiving light and still couldn’t drink anything. I completely lost it, Nobody could tell us exactly what was going on. In the morning I started to cry really loud in the corridor when the cheaf of the nurses came to talk to me. She quickly figured that what happened during the night was not right. We are talking about a very famous hospital in São Paulo. In a few minutes the head of the paediatricians came to talk to us. He told us Nina had a “cianosis” during the night, that they didn’t know exactly what happened, but she went “pale”. He understood that there was a miscommunication before and it shouldn’t have happened. He asked if we would agree to move Nina to the semi intensive care just to be sure everything was ok and run some tests. It would be better for her to keep the treatment for ictericia and if we wanted to, they would call a geneticist. He didn’t believe there was anything wrong with her but it would be better for us to come back home without any doubts. And everything went pretty well, the ECG was ok and the only thing the geneticist found different was some extra skin in her neck.
The first month was difficult. She lost more weight in the first week at home. I couldn’t breastfeed her wich was very frustrating to me. If I only knew what was coming, I wouldn’t have felt that bad. She could easyly drink from the bottles and after seeing a speech therapist and trying many things, I had to give up and accept breastfeeding wouldn’t happen. I kept rememebering the things I heard at our pregnancy classes, how important the mother’s milk is, etc, etc. I even had to answer the question at the supermarket “she is so small, why are you buying artificial milk?”. People can be very mean and invasive! But the important thing was she started to gain weight after 2 weeks and everything seemed fine. She was such a lovely small baby. The second and third months were full of joy. Thomas’ mother and brother came to visit in Brazil, that was a wonderful time with the 2 families together.
When Nina completed 3 months her paediatrician said she should support the head better at this age and advised us to see a neurologist. She always agreed that Nina had an unusual face. Again, total panic. I hated the doctor. How could she say something like that about my precious girl? And It all started again. Before we saw the neurologist I took her to another doctor, a friend of the family, and he was more optimistic. He thought her posture was wrong and it was probably related to her position in the uterus. We blamed my septus for everything, that was the reason she couldn’t drink from my breast and now this. But he also found something strange. Her fontanella was closed and it was too early for that. It could be that it was ok from the inside, but we should check it with the neurologist since the head needs space to grow. And depending on the case, surgery would be necessary. Only God knows how afraid I was. But again, it turned out everything was fine and after the CScan we were told not to worry about her. The neurologist also added that her cognitive test was great. Some phisiotherapy could help her. Ok, lets move to Germany in peace. And at Nina’s 4th month anniversary we came to Hamburg.
It was very hard to say good bye to my sister, nephew and niece, my father and my best friends. It’s never an easy decision. We left a very hot summer and arrived in the end of the winter in Germany. It was so cold… But that was also good to introduce Nina to the other part of her family. We had lots of things to do, specially regarding health insurance and renting an apartment. Luckly the thing with the insurance was quick. Because after 2 weeks Nina was ill. She woke up screaming with colics and some fever. It was Sunday. We tried to give her some medicine and she felt a little better during the day, but it all started again and we took her to the hospital in the evening. I will never forget this place.
It’s called Altonaer kinderkrankenhaus, a children’s hospital where our niece had been before, it was highly recommended by my brother in law. After some minutes in the ER, the doctor in charge asked if we had been to a geneticist before. Oh God, not again… She thought her ears were too low and we should run some tests in the next days while being in the hospital. Nina would probably stay for a few days, they could not ifigure out what she had in the beginning but probably some viral infection like many other babies there. Aparently that was some epidemic thing going on. And in 2 days she had not only a gastro enteritis but chest and lungs infection as well. She was so thin and weak, and so quickly. She stopped eating. We were devastated. We didn’ t see her smile for days.
The doctor that took care of Nina for the next days turned out to be very important in our lives. She explained that during the ultrasound for the stomach they found out Nina’s kidneys had an unusual shape, like a horse shoe. She asked if we would agree to investigate for some genetic syndrome. Very different from other doctors we saw before, she made us feel safe and was very competent on finding the truth. Later on they told us that when the X-ray of the chest was made, they also found out her clavicula was divided in 2 parts at the right side. At that point I told my mother in law, my sister and Nina’s godmother that we should be prepared for what was coming. We might have a special child, I said. All the time my husband and I agreed that we wanted to finally have a diagnosis, no matter what. Every doctor that entered the room had something to say about Nina. Even the orthopedic doctor who thought her muscle tone was too soft. They tried to reach Dr. Meinecke but he was out of the country so we had to wait for a few days, while Nina was still recovering. On Friday morning he came. I was alone with Nina in the room. I told him to be gentle because I was very afraid of what was coming. He looked at Nina and asked “Are you prepared? Because I know what your daughter has.” I said yes, is there a name for that? And he answered “ It’s called Kabuki Syndrome”.
I had to pull a chair. I couldn’t support my knees anymore. He gave me a brief information about the syndrome. That was by far the most chocking thing that ever happened to me. Worse than the day my mother told me she had cancer. But even more difficult was to answer the phone when Thomas called me on the way to the hospital, 15 minutes later. In a little while he entered the room. He was crying and asking “where is my daughter?” We kept holding her for some minutes. Dr. Meinecke also talked to Thomas. I called my sister and Nina’s godmother in Brasil. And I called my brother in law who came over with his family one our later, with great food and some prints about the syndrome in Portuguese and German.
That’s how it happened. I felt very strong that day. I said I was up to the job. She is our lovely baby and nothing is gonna change. We’ll help her to be happy and that’s the only important thing. I even felt relieved. Since she was born I had that strange feeling in my heart. We knew she was late and although we tried to believe everything was fine, we knew there was something wrong, deep inside.
My break down came the next day. I was terryfied. I guess you all know what I’m talking about. I was just afraid. I started to imagine she would look weard, and teased by other people. I was afraid she would be “noticed” in the streets. And mostly I was afraid she would suffer a lot, and have all the things on the list of common problems I read about the syndrome. I needed the help of many people that day. My sister called and we talked for a long time. My best friend (Nina’s Godmother) told me some friend knew a girl with Kabuki in Brazil, and she was beautiful and lovely. My sister in law, my mother in law, they all helped a lot. Even Nina’s cousins helped… And the nurses. Poor “sister” Verena saw me crying all weekend.
That day I remembered one of my favorite Brazilian songs. It’s called “Você é linda” (You are beautiful)
Fonte de mel
Nos olhos de gueixa
Choque entre o azul
E o cacho de acácias
Luz das acácias
Você é mãe do sol
Você é linda
Mais que demais
Vocé é linda sim
Onda do mar do amor
Que bateu em mim
Source of honey
In these eyes of geisha
Clash between the blue
And the cluster of acacias
Light of the acacias
You are mother of the sun
You are beautiful
More than too much
Yes, you are beautiful
Wave of the sea of the love that hit me
I wrote it down and looked at it everytime I felt bad. And hugged my child, the most beautiful thing in the world, my precious Nina. We love her so much. She brings such a light to our lives. It’s difficult to have the diagnosis while the child is ill. It seemed it would never end. But she surprised us a lot. After that, she was only ill once, and took it very well. We didn’t come back to the hospital yet. She is going twice a week to the phisiotherapy, wich she hates! She is always coughing, but nothing serious. And it’s not easy to make her eat… Everytime we see an specialist we hear the same thing. It’s not perfect, but it’s working well. Her heart, her palate. We feel lucky. Sometimes she does amazing things that we wouldn’t expect. When she completed 6 months she suddenly turned on the bed. Just like that. I was not looking, and she turned. Like every other baby is supposed to do, at the age of six months. I was thrilled. I called everyone I could! She has hypotonia and a broken collar bone, but she did what other babies do.
We will start an early learning therapy pretty soon. We hope it will help. She still cannot support the head very well and cannot sit yet. But she is very active and tries to do things really hard. She just learned how to put the pacifier into her mouth. She does it all the time. And I get happy everytime I see it.
Reading all your stories was very inspiring and scary at the same time. You are all very brave parents and should be proud. Some of you have kept your children’s lives with your own hands. It’s outstanding. There are those days when I get scared again about what is coming. But most of the time I just enjoy my baby. I think we should not hate the Syndrome. I always think of that. Nina would have a different face if she was not Kabuki. How could I live without those eyes? I wouldn’t trade her for anything in the world. Her father feels the same.
When Cath & Darren first told me they were having a baby I was very surprised. They’d been saving to get married and we’d all thought a baby was the last thing on the cards. I was overjoyed though, not only a grandchild to look forward to, it would be my first! Cath and I worked together so I got to see her bump growing every day; it was a very exciting time. With her partner Darren working full-time too he couldn’t always get time off work to attend Cath’s appointments with her so I often filled in. I thought it was important that Cath had some support and didn’t have to do things along, especially as they don’t have a car and manage on public transport.
At Cath’s second scan she was diagnosed with polyhydramnois, an excess of amniotic fluid. We’d always though she was large for her dates, at least now we had a reason why. She had to attend extra scans and I was lucky enough to attend the one scheduled at 34 weeks that Darren couldn’t make. Cath was huge by this time and very uncomfortable. Her bump was rock solid and she barely felt any kicking. The scan was incredible. There was my granddaughter, looking so beautiful and with, apparently, a full head of hair. It took 2 nurses and consultation with a doctor to decide that the funny shaping around the baby’s head was just hair and not anything more ominous. All stated they’d never seen anything like it! During the scan the nurse measured the depth of water Cath was carrying and it came out at 14cm. She told us 9cm was considered a lot and sent us off to the appointment with the doctor. It had always been difficult to find the baby’s heart rate because of the excess water but when the doctor finally found it the baby was tachycardic, meaning her heart rate was too fast.
He decided to admit Cath for some monitoring and steroid injections to mature the baby’s lungs, with a view to inducing labour the following week. Well I just fell apart. It suddenly hit home that my baby was about to have a baby. Unreal! I started to cry a little and as Cath turned to me I just said “I’m not ready!” She laughed and said quite incredulously “you’re not ready? I’ve not even packed my hospital bag!” So much for being there to offer her support, she was hugging me and telling me it’d be ok. The doctor gave us a couple of hours grace to go home, pack a bag and check back in at the ward that afternoon. This was a Thursday. By Sunday morning, Cath was still in hospital and Darren was out buying nursery furniture with his dad. We were at home awaiting news. When the phone eventually rang it was Darren. Cath had rang him while he was in Ikea to say that the baby’s heart rate had still not slowed and she was being taken up to the labour ward to deliver today. What a shock! There wasn’t even enough time to process everything that was happening, we were just desperate to get to the hospital. I texted everyone in the family to let them know what was happening and promised them news as soon as I knew anything.
My husband, Ken, and I arrived at the hospital around dinnertime. Cath had already been taken to labour ward so we couldn’t see her but Darren kept us updated. An internal examination had found the baby wasn’t engaged and induced labour would have been dangerous, so emergency C-Section it would be. It was such a worrying time. Cath was only 34 weeks and I was scared for her and scared for the baby.
Our little granddaughter was born at 5:12pm on the 28th September 2008 weighing 6lbs 8oz, a good weight for 6 weeks early! We were overjoyed and very relieved. A safe delivery for both mum and baby, it couldn’t have gone any better. The baby had to be taken to the Special Care Baby Unit (SCBU) as not only was she 6 weeks early and needed to be checked over, she’d had a couple of problems that we weren’t entirely clear on to begin with.
After Cath had spent some time in recovery she was wheeled through on a bed to SCBU to see her baby. We got to see her briefly as she passed in the corridor. I was able to say a few words and more importantly, see with my own eyes that she was ok, if a little groggy from the drugs. After a few minutes spent with the baby, during which time they’d decided to name her Bethany, Cath was taken back to the ward to sleep and recover from surgery. Darren came out from the SCBU and took us in to see our new little granddaughter. There she was, surrounded by monitors and beeping, looking dwarfed by the cot she was in and bundled up against cold. I was overwhelmed by feelings of joy and pride. There was my granddaughter, such a wonderful gift that Cath & Darren had given us. I knew from the minute I saw Bethany that there was something different about her. I was really glad, all new babies tend to look very similar and I was thrilled that our little girl was something special. I’m sure all new parents and grandparents think that though! Bethany was very swollen and red, the first a consequence of the increased water pressure on her and the second because she was premature and the increased red blood cell count during pregnancy had not had the time to fall to more normal levels. And of course she has a full head of dark hair! It was kind of expected from the scan but still a surprise to see her with so much. I was desperate to hold her but we just took a couple of photos and left to allow other family members in to have a look and meet the new arrival.
To begin with Bethany couldn’t suck. This is considered normal for premature babies as the suck instinct doesn’t develop until quite late in pregnancy so it was just a matter of waiting for Bethany to catch on to what this whole bottle lark was about. In the meantime she was fed via a nasal-gastric tube, which Cath & Darren very quickly became accustomed to using. Another problem keeping her in SCBU was her oxygen desaturations. They would happen sporadically and Bethany needed an oxygen mask applying to bring her sats back up. During this early time Cath & Darren were taken into a side room by a doctor and told that Bethany had “dysmorphic features”, which were usually an indicator of a genetic condition of some kind. The doctor told them that Turners Syndrome was suspected as Bethany had excess skin on the back of her neck. What a shock. We knew Bethany was premature and had a couple of problems associated to her early birth but we were completely unprepared for that bombshell, as were Cath & Foz. They were very stoic and made the decision together that they wouldn’t read anything about Turners until they’d had a positive diagnosis. Bethany needed enough care and attention without worrying about something that may not be. I, on the other hand, couldn’t resist and my heart sank as I read all about Turners. Still, our girl was beautiful with a family that would rally round so I tried not to worry too much. It was possibly not even the right diagnosis.
The next few days passed in a blur. Cath never left Bethany’s side except to eat and sleep. She would even sit and express breast milk sitting by the cot. She wasn’t doing her own recovery any good spending those long hours sitting in the same chair but all she wanted to do was be with her baby daughter. I felt my role was to try and give her some respite, even coaxing her for half an hour at the hospital cafe was time away from the long hours at the ward. Poor Darren only had the first few days with his girls and then had to go to back to work, trying to save some of his paternity leave for when Bethany came home.
Cath was discharged after 4 days. She couldn’t face going back home without her daughter and so came to stay with us for a little while. I looked after her as best I could. We would drop her at the hospital in the morning with food, magazines and general supplies to see her through the day. She would bring the milk she had expressed every 3 hours through the previous night. We’d pick her up at teatime and bring her home for food, then back to the hospital with Cath & Darren to spend the evening with Bethany. Sometimes we’d stay and have a cuddle with our granddaughter and sometimes we’d let them be alone. After a few days at our house Cath decided it was time to go home. Bethany wasn’t showing any signs of being discharged any time soon and Cath wanted to be in her own home and back with Darren.
Bethany was finally discharged after 18 days. She had learnt to bottle feed on demand and had suffered no oxygen desaturations for a few days so the doctors were happy for her to come home. We were thrilled and Cath & Darren were over the moon. The test for Turners had come back negative, another reason for celebration.Not long after discharge Bethany had her first check-up appointment with a paediatrician, who took one look at Bethany and referred her to genetics at Alder Hey Hospital in Liverpool, the nearest specialist children’s hospital.
The Health Visitor was the first to pick up on Bethany’s poor weight gain. She had had problems with feeding since being discharged; she would cough and choke on the milk then upset herself so much she would refuse anymore. These episodes while she was feeding would often result in sickness, Cath & Darren were despairing over how to fix it. Multiple doctors had told them multiple things from wrong bottles, trying formula instead of breast milk to Bethany just being a fussy baby. One even implied that Bethany’s poor weight gain was a result of Cath & Darren’s disregard for Bethany’s health. They were devastated and my heart broke for them. Bethany was so tiny and skinny but nobody would help them and look beyond the superficial reasons for something deeper. Still they persevered and slowly but surely Bethany gained weight, although she was still below the centile charts for her age.
Over the first 8 months of her life Bethany was in hospital 3 times, in January, March and May 2009. Each time for a chest infection with varying degrees of severity. July 2009 brought Bethany’s genetics appointment. Cath & Darren had invited Bethany’s grandparents but unfortunately only I could attend. My only thoughts leading up to the big day had been for Bethany, Cath & Darren. How they would get on and what would the geneticists find. It had never occurred to me to prepare myself for the sight of so many poorly and disabled children. To see so many children with birth defects or bald heads from cancer treatment hit me quite hard and I realised how lucky we are that Bethany is relatively healthy.
We were shown into a comfortable room, nicely decorated with couches and a coffee table instead a desk and chairs. Cath quietly commented that it looked like bereavement room and made her uncomfortable, I couldn’t help but agree. We were all very nervous and worried. Obviously we did not expect immediate answers, diagnosis could be a long process but we hoped for some idea of what could be the matter. The geneticist asked Cath & Darren to talk her through Bethany problems and the story of the pregnancy, birth and Bethany’s life so far. Then she did a through physical examination, which my lovely little granddaughter sat through quite happily. She pointed out Bethany’s dysmorphic features: widely spaced eyes, flat nasal bridge, small jaw and chin and prominent ears, of which one was not formed properly. Noted Bethany’s floppiness, diagnosed as hypotonia. It took her 7 months to support her own head and wasn’t sitting confidently until 14 months. Also her lack of growth (failure to thrive) and developmental delay, she was very obviously far behind other children her age in her milestones.
Bethany was due to go under anaesthetic a couple of days late for a small camera down her throat and Cath & Darren decided it was best to take the blood from Bethany for the tests during that, rather than upset her. At the end of the appointment Darren asked if there was anything that the geneticist thought it was more likely to be. I think we all mentally held our breath. She warned us that there was only one thing that sprung to mind when looking at Bethany, although it was only an ‘educated guess’ at this point and would take further investigation. “It’s something called Kabuki Syndrome”. Well that hit me like a brick. I could see from Cath & Darren’s reaction that they hadn’t registered the name like I had. I was so sure a gentleman Cath and myself had worked with had a daughter who died as a child, and she had had Kabuki Syndrome. I didn’t say anything, I wanted to process it myself before scaring Cath & Darren but I was so sure the geneticist had just given Bethany a death sentence. She warned us that there was no blood test for Kabuki Syndrome; a diagnosis would need to come from a team of professionals who all agreed that Kabuki was what Bethany’s symptoms demonstrated. This, she told us, was called a ‘clinical diagnosis’. The end of the appointment passed in a blur while I searched my memories for information regarding my old colleague’s daughter. Sitting in the car on the way home it came to me that she had died of Meningitis, a slight relief. Lots of children died of meningitis, most perfectly health otherwise.
Getting home I think we all did the same thing; jump on Google. As I read about the syndrome I became more and more convinced that the geneticist had been right: Bethany fit it perfectly. Not everything was correct, she didn’t have any organ problems or physical defects but the feeding problems, floppiness, developmental delay and, most importantly, her features all fit the bill. When I spoke to Cath later that day she told me Darren and herself had been pretty convinced by what they’d read too. We knew we were in for a bumpy road but on the plus side we hadn’t read anything regarding a shorter lifespan. What a relief. Two days later brought Bethany’s small camera down her throat. We arrived back at Alder Hey and made our way to the day surgery ward. The procedure was quick, only 20 minutes yet Bethany was admitted overnight as a precaution because of her tendency to have oxygen desaturations during sleep.
Bethany was there a total 3 weeks and 1 day. Whilst there she was seen by the dietician, speech therapist, respiratory nurse and numerous doctors. She had a video fluroscopy and an overnight ‘sats study’. Cath & Darren were thrilled that the staff at Alder Hey were taking them seriously and doing some serious investigations into what the problems were with Bethany, why she couldn’t feed properly without choking and why her oxygen levels would drop during sleep. At 9 months old Bethany was well overdue some answers! During this time the team of geneticists came to confirm the original suspicion of Kabuki Syndrome. I happened to be visiting when they arrived and was glad, as Darren was at work and I wouldn’t want Cath to go through something like that alone. They all trooped in the room, about 8 of them in total including the original geneticist we’d seen. They gathered around the cot and made a lot of ‘ummmm’ and ‘aahhhh’ sounds, none of them addressing any of us, only each other, using long medical words we didn’t have a hope of understanding. They asked Cath a couple of questions and did some poking and prodding, Bethany just smiled through it, the little trooper. Eventually they all began to nod amongst themselves and Cath, finally tired of their reticence I’m sure, asked the question: “so are you telling me my daughter has Kabuki Syndrome?” The answer? “Yes I think we can safely make that diagnosis.”
So there it was. Confirmation. Our beautiful little girl has Kabuki Syndrome. Since reading about it on the internet we’d been pretty convinced but it was still a shock. Cath had a good cry and I comforted her as best I could. Bethany was oblivious. She’s such a happy child, nothing fazes her. The next few days were hard, it was almost like a grieving process. Like we were grieving for the child that Bethany might never be. All those dreams I’d had for my grandchild were turning into an impossibility. I knew Cath & Darren felt the same. But that grief was tempered by guilt: as if we wished Bethany was someone other than herself. We didn’t. At all. Bethany was, and is, such a beautiful, happy, loving child and brings joy to us every day. How could we wish she didn’t have Kabuki Syndrome? That would be wishing she was someone else and we love her just as she is.
Bethany finally left Alder Hey Hospital after 3 weeks and 1 day with a gastrostomy tube and oxygen fitted at home for use during sleep. It turns out Bethany aspirates her food and so is nil-by-mouth until she is strong enough to swallow properly and not into her lungs. The oxygen desaturations are also of a frequency and duration to require oxygen through sleep. It’s such a relief to finally have some answers and know that Bethany is getting the things she needs.
Bethany is now 18 months old and since having the gastrostomy tube has come on in leaps and bounds. She’s sitting unsupported, although still can’t catch herself when she falls, and standing if you hold her. She doesn’t yet pull herself up and tolerate being on her tummy but she’ll get there. Just recently she’s started to clap her hands and wave, which is just precious and we’re very proud that she understand how to do these things. Bethany’s not letting her developmental delay hold her back. Bethany sees a lot of professionals: a physiotherapist, speech and language therapist, dietician, occupational therapist, play therapist and the usual array of doctors. Cath works very hard with her at home on exercises given by various therapists and slowly but surely we’re starting to see the results. I try and see Bethany every day, she is my whole world and, as family of Kabuki children I’m sure you know, so sweet-natured and happy all the time. She really is a joy.
This is my story about discovering our beautiful son Joshua had Kabuki Syndrome. At the time he was diagnosed there seemed to be very little awareness of KS in our society, but thanks to the incredible work of Peta and her team this is beginning to change.
Joshua is our first child and no doubt you can imagine our excitement as we headed off to our first ultrasound at 12 weeks, totally unaware that our lives were about to change so dramatically!
It all began so “normally” (now there’s a word we didn’t hear again!!) as the chatty sonographer pointed out Josh’s hands and arms, his feet and tiny little legs crossed at the ankles and strong heartbeat. Suddenly though, she went quiet and I knew something was wrong. Josh had a nuchal translucency (fluid at the back of his neck) of over 8mm (normal is considered to be between 1-2mm) This screening test is most commonly used to detect Down’s syndrome and after a few minutes we were told our chances of having a baby with this syndrome was 1 in 7 when for my age it should have been 1 in 1500! We were immediately sent to another hospital for a CVS and then waited through a long weekend for the results. When the results came back they didn’t show any abnormalities and so we thought it was just a “false alarm”. Thinking back though, I do remember the doctor telling us it could be one of those very rare chromosomal conditions, but they were so rare we shouldn’t worry.
Despite the doctor’s reassurance what followed was an anxious pregnancy with multiple ultrasounds. At 37 weeks, because Josh had stopped growing, our little boy was delivered by emergency caesarean section. When Josh arrived he was the most adorable tiny bundle (just over 5lbs). He had an amazing head of white/blonde hair and because he was jaundice he looked like he had a suntan! To us he was absolutely perfect. The first sign that there may have been something wrong came when Josh was 1 day old. A nurse noticed Josh’s sacral dimple and asked me, just before she went off duty at 11 o’clock at night, if I had heard of spina bifida!! After a sleepless night and countless tears the paediatrician arrived and looked at Josh and said of course he didn’t have spina bifida and that he was just fine, Aah! Relief! Another false alarm. Great we thought and 8 days after Josh was born we headed home.
The first weeks of Josh’s life were wonderful but challenging. Our little boy was home but he was tiny, sleepy (during the day, awake all night!) and still jaundiced. He struggled to feed, projectile vomited and didn’t put on weight. However, being naïve and new to parenthood we continued to think everything was just fine.
When Josh was 4 weeks old he and I ventured off to Mother’s group. Over the next 8 weeks it became increasingly obvious that Josh was not like the other babies. He was tiny, he was still not smiling by 12 weeks and was a “floppy”, low tone baby unable to hold his head up. Despite reassurances that he was fine I obtained a referral to another paediatrician. As a result we found ourselves on Christmas Eve taking Josh for blood tests and being told that our son had Fragile X, or Turner’s Syndrome, William’s Syndrome or perhaps, Prader-Willi Syndrome!!! Christmas Day was spent on the internet reading volumes about all these different conditions and trying to determine which one we thought Josh had. Of course when the blood test results came back they showed that Josh had none of these conditions! The paediatrician then referred us to the Genetics Department at the Royal Children’s Hospital.
As fate would have it our appointment was set for April 1st with Dr Sue White. After spending a few minutes with Josh, Sue told me she thought our little boy had the features of a condition called Kabuki Syndrome - what?!! I had been a Special Education teacher for many years and I had never heard of such a condition. She must be joking (it was April Fool’s Day after all) This was where she was meant to tell me it was all okay and just another false alarm. Instead, Sue sent us to have photos taken of Josh, which she then shared with colleagues. Six weeks later we received a letter confirming the diagnosis. I still acutely remember that feeling of loss and the grieving for the “normal” child I would never know. I remember being overwhelmed and wondering what I had done to deserve this. However, as I held the letter, my eyes just kept going to the final sentence where Sue had written, “this diagnosis does not change who Joshua is”. How true!
Fast–forward five years and hours upon hours of therapy, wonderful highs, traumatic lows, tears of joy and tears of despair and today I write this as the proudest Mum in the world. I have a gorgeous, warm-hearted, bright, sensitive, compassionate little boy who continues to amaze me and inspire me a daily basis. On that day back in April 2006 when I heard the words “Kabuki Syndrome” I never thought I’d feel this way, but our Josh is such a gift and such a blessing that whatever I did to deserve this I am so glad I did it!!
My Story - By Andrew DeMello
Hello I am Andrew DeMello and I am 19 years old. I was diagnosed with Kabuki when I was 11. At first I did not know what to expect, but when I talked to my doctor he reassured me and made me feel better. I have many problems that associate with Kabuki. I have many mental and physical problems that have affected me throughout my life. I have ADHD, OCD, Tourrettes and depression. I have some physical problems that affect me every day. I have problems with my knees. They hurt sometimes. Because of this I can not stand for too long, or walk for too long. But I get buy. Another problem I have is a math disability. It is hard for me to fully comprehend math. But I get buy with that too.
When I found out I had Kabuki it really confused me and I did not know what to do. I learned of all the things it could do to me and I got them checked out. My mom was asked if I should participate in a research but she said no. This was only 20 years since it had been discovered, So that is why they asked if I could participate. My mom has now told me that she wishes she said yes, but we can not change anything now.
Anyway Kabuki has changed my life, when I was first diagnosed I went to Boston Children's Hospital in Massachusetts, United States. When I was there they told me that I should take some growth hormone shots because I would be short if I did not, so my mom agreed. I think that it only lasted a month and now I am about 5' 5". I believe I would be about 4' 8" or so. I don't think that would make a huge difference if I was. I was also really skinny and the shots helped with that too. I was around 50 - 60 pounds. I am now around 190 pounds, which is better but a little too big.
Anyway other aspects of my life are well. I graduated from high school last June. June 6th 2009. I am now in a local collage called Greenfield Community Collage. I am taking Reading and Math. These are classes you must take before you can take a major. The major I would like to take is Fire Science. I want to take this major because I wish to become a fireman someday. It has been something I have wanted to do ever since I was little. It may sound funny but when ever I heard a siren I would go running to a window in the hopes of seeing it pass by, I still do that sometimes. HA-HA.
I am very much like a regular person, I like to watch Television and play video games and hang out with friends. I have many favorites that I like to watch, such as Family Guy, South Park, American Dad, Scrubs and many more. There are way to many things to list. Another thing I like to do is read and write. I have begun novels and books in the past but I have not completed them. I always get distracted and do something else. There's my ADHD for you. ha-ha. Well this is the basic out line of my life. I am happy to have told everyone about it.
Learning to eat is a basic human skill – for our Gemma it was not so simple. This is the story of our cyber journey to Graz University in Austria – and Gemma’s triumph. Within a week she was tube dependent – and we were clueless to its true meaning. It all happened so quickly - life revolved around Gemma’s pump feeding her 24hrs a day.
Life with Gemma was a constant cycle of feeding lines, syringes, medications to stop the vomiting, vomiting again and the pump’s “beeeeep beeeeep” every 4 hours, calling us to change the formula bottle. Nobody was sleeping in our house, I was even imagining the pump beeping or malfunctioning and then waking to run and check it all times through the night, not just when it was due.
Then Gemma was diagnosed with Kabuki Syndrome at 3 months and many months later we were surprised to find out that not many babies with Kabuki Syndrome needed to be tube fed. Gemma’s doctors said that she would be tube fed until around 4 years of age – with a chance of dependency for life! This was not acceptable – we could not have this for Gemma if she was capable of eating normally – she was breast fed initially, surely she could again. We thought that if a child is hungry enough they will eat – we learnt it is not that simple.
It was by chance a family member saved a magazine article about a tube weaning program in Graz, Austria. The cost was $50,000 to travel to Austria and we were so desperate for Gemma to eat decided to go for it. When I emailed Graz University Hospital in Austria, to our amazement they assessed that Gemma was a good candidate for their Net-weaning program – it was $3,000 and from the comfort of our own home! So in March 2010 it began – our cyber journey to Austria - Gemma was 11 months old.
As Gemma’s pump feeding was reduced, she experienced hunger and thirst and she was screaming all the time. She went from mostly happy and sleepy, to screaming all day and night. Attempting to feed her, met with no success, anything that actually made it into her mouth was choked on and spat out - her constant refusal was exhausting. Then there were the trips to the hospital and therapy for all the routine medical appointments, after 9 appointments in 2 weeks, the seemingly fruitless feeding attempts, lack of sleep and Gemma so unhappy we decided it was all too hard and to give up. We detailed the reasons for giving up to our cyber Professor in Austria. The wisdom from Austria seems so obvious now – we had to put all non-essential doctors appointments, surgeries, nutritionists, and therapies on hold and focus on the tube weaning if we wanted Gemma to succeed. Based on Gemma’s YouTube videos, Graz was insistent Gemma had the mental capacity and skills to learn to eat, so we continued – coached via the web from across the planet. Each week we would upload YouTube videos of Gemma eating and our cyber Professor would analyse her progress and advise a course of action.
Week after week the journey continued. The rules issued from cyber space were strict – like no wiping her face, no cleaning etc just a bath after each mealtime and after each snack time – we obeyed and we cleaned and we videoed. To cut down the formula feeding meant we needed to stop the pump one hour earlier every 2 nights until finally stopping at midnight. This was a big step – stopping at midnight - no need to tend to the pump through the entire night was wonderful. No more mixing formula, no changing lines, no “beeeeep beeeeep” after midnight. During the course of tube weaning we discovered that Gemma is much smarter than we thought – she knew the pump meant food and became very excited when she could see it. But to break this psychological link we had to hide her pump out of sight and only connect her when asleep. She was also very determined - when she began eating she would refuse all the time we offered but to our continued amazement if we left the room she would eat something herself with no one around.
At last, after many months her hunger had overcome her determination not to eat. It again took a long time, but slowly Gemma began to eat and drink more each day, and finally after 6 months on the program she was off the pump and was gaining weight. No more tube feeding. No “beeeeep beeeeep” ever again. With no tube the biggest change was in her development, attached to the tube she did not move, during the weaning suddenly free of her pump she started rolling everywhere, then crawling and now pulling up to stand. Learning to eat was a rollercoaster of emotions for all of us, the joy when finally Gemma finished a bowl of food and wanted more, the frustrations at months with no progress and the low points where we doubted our cyber saviour and believed the doubters. We applied for a disability ACT quality of life grant to cover the tube weaning costs and were unsuccessful; it is still hard to believe that a child visiting their soccer hero contributes more to quality of life than learning to eat. It was a bit of a blow because there were 90 successful of greater amount so to us it meant Gemma learning to eat was way down the list. The best part of the No Tube program was not being alone, having a team of professionals to answer your questions, to advise us on what to do and to provide reassurance that everything will be fine.
Tube weaning is not easy and it is one of those things that unless you have been through it, it is hard to understand. And to those wonderful, but unseen, people in Graz - you have our eternal gratitude for believing in Gemma - and for giving her parents some tough cyber-love that kept pushing us forward when we doubted that it could be done. Thank you - go to www.notube.at to learn more.
I had wonderful pregnancy, and worked up until 38.5 weeks. The labour was a different story though. Since my pregnancy was so perfect I decided to go through the birthing centre; all natural.
I was 2 days over due when I started contractions 30 15 mins apart, but I was only dilated 4cm so was sent home. Over the next 7 days I went back & forth asking for help, sleep...induce me!!!!! anything, finally they manually broke my waters, and Allegra was born within 45 minutes.
I was surprised because she was so tiny for a baby who was born nine days over due. They discovered her sugar levels were extremely low. She was then sent to the special nursery.
It was then we all realised that Allegra had more problems. Her face, feet, and hands were all squashed and she was missing a toe. Allegra had abnormal hips, very large breast tissue and a high arched pallet. These were only some of the first issues we came across.
Since then, Allegra has suffered from severe ear infections, constipation (where she has had a prolapsed bowel), she has major global delays including her growth and learning development, she also has hypothyroid disease to name just a few.
Allegra still has a number of tests and operations to come, but knowing why and knowing that there is help and others out there has made it allot easier to understand.
By Lisa & Kerry
Hello to everyone - I am the mother of Illyanna "Lilly".
First, I will give a quick medical background. Lilly was diagnosed with Kabuki at 20 months of age. We knew before she was officially diagnosed that she had Kabuki just from visiting the web sites and from other pictures of kids with Kabuki. When you see pictures of her, you will agree too.
Lilly was born very prematurely at 24 weeks. She was 1 lb. 12 1/2 oz. (about 800 kg). She went all the way down to 1 lb. 6oz. (about 695kg) before she started to gain. She spent 4 months in the NICU. We went through heart surgery (PDA), laser surgery (both eyes-ROP), NEC, peg-tube placement, reflux, and of course the other typical preemie problems. She was born with a cleft of the soft palate (the first on either side of our families).
Since she came home, she has had tubes in her ears 3 times, palate repair surgery, ear infections, pneumonia a few times, a couple hospital stays (croup and RSV), sinus infections and numerous colds. She is currently 100% g-tube fed.
Lilly was diagnosed with hypothyroidism and recently diagnosed with an ASD (left atrium). She is delayed (up to a year) in all developmental areas. She now wears glasses. We have been through 2 DOC bands to reshape her head.
Lilly is BEAUTIFUL!!! She is a fighter. She amazes us each day with what she knows (perceives) about the world around her. Just the way she expresses herself. She craves loud, bright, rough one minute and cuddles the next. She is very "free" with her love to everyone she meets. Lilly loves the "in your face" excitement one moment, then turns around and is so gentle the next. She is always the "rock star" at the hospital. It is so amazing what these kids "just know" about life!
My husband and I are constantly asked "how do you do it?" You just do. I do not know any other way. She is our daughter. We love her as she is. We all love our children-no matter what!
We hope you have enjoyed the story of our "Tiger Lilly". We also hope you all will enjoy the pictures of Lilly as we have enjoyed the pictures of your children.
Most of our children enter the world in the usual way via birth to a mom and dad. Derek entered our lives just a tad differently.
In 1994, my late husband and I lost our only birth child, a daughter, to a severe heart defect when she was just six. She had Down syndrome, so we were well versed in the special needs world. I was 41 and my husband was 42 when she died. After time had passed, we found that we were incredibly lonely. So we decided to adopt an older, unwanted, American child, special needs considered, as long as the child wasn't under a 'death sentence' like our little girl was. We just couldn't bear to go through that again.
Due to our ages and the fact that we had 'done' our baby, we decided to leave the babies to the younger parents. We found a good agency. We jumped through all the hoops (and there were many) and settled in to wait. If biological parents were put through what we were put through to adopt, there would be a lot less abused and unwanted children.
There were a couple of false starts. Then, out of the blue, I got a call from our adoption worker. There was a little 3-year-old boy who had beenl egally adopted while overseas by American parents and they were en route with him back to America from the Republic of Karelia, former USSR. Would we consider taking him, at least under a foster basis? This quite possibly was a potential international incident. The first set of parents noticed some very bizarre (in their minds) behavior on behalf of the little boy. They decided they couldn't parent or love him. When they arrived in the USA, they immediately revoked their parental rights and the little boy was placed in one of the agency's foster care homes in Silver Spring, Maryland. Under Russian law regarding the adoption, Derek was considered to be a domestic adoption by the laws here in the USA. He was issued a green card and Medical Assistance.
The foster mom took him to Children's Hospital in D.C. where the geneticist there gave him the FLK label (meaning 'funny looking kid'). This is not meant to be an insult. It simply means the doctor knew something was up, but not what it was. Then he was taken to a developmental pediatrician who said the same thing. During the Children's Hospital visit, the little boy also saw a cardiologist who detected a faint heart murmur.
I immediately said yes, then called my husband to inform him and he readily agreed. Shortly after, I traveled to Silver Spring, Maryland, to meet this little boy. When I arrived at the foster home, there were children of all colors there...I called it the Rainbow House. The foster mom called for the little boy, whose Russian name was Zhenya (short for Yevgheny). He came out of nowhere, walking with a toddler's gait even though he was 3. He came flying over to me and climbed on my lap and studied me with the two most beautiful blue eyes and the longest lashes I had ever seen. He also looked scared and sad. He had the worst haircut I'd ever seen and some of his clothing was girls' clothing, plus he had one ear that stuck way out. Funny looking kid, indeed! He wrapped his little arms around my neck and held on for dear life. It was a done deal. I was instantly bonded with him.
At that time a car seat wasn't required for a 3-year-old, so I hadn't brought one. The foster mom graciously loaned me one as Zhenya was so small for his age. I loaded him up with his few meager belongings and a couple diapers as he wasn't potty trained. I drove back to my husband's job where he met little Zhenya. Zhenya went right to my husband's arms while all the employees were watching. Again, instant love. My husband took the rest of the day off and we took Zhenya to his new home. We called all of our friends and family to tell them; we were so excited and happy. We couldn't imagine how little Zhenya was feeling inside with all the changes and hearing a different language. He had been traveling for a very long time and had only been in his foster home a few days. The first thing we did was feed him, but I don't remember what. He displayed 'orphanage' behavior by wrapping his arms around his plate and shoveling the food in as fast as he could.
After eating, he was so tired that we put him to bed early and he went off to sleep. Then I made a much needed shopping trip to a WalMart to at least get him the basics. The next morning, he didn't get up and come running out of his room like most children. He was awake, but stayed in his bed. We later figured out that in the orphanage he was taught to stay put until all the adults were up and about and came to get him up. It only took him a couple days to figure out that he didn't have to do that anymore.
Not long after, our family and friends gave us a 'baby' shower! We got some much needed items for him and toys, toys, toys. Zhenya opened all the packages himself and his grin could've split his face as he discovered what was in each. His big blue eyes got even bigger. We all had a great time!
Zhenya (or Yevgheny), loosely translates into English as Eugene. We weren't enthused about that name and settled on Derek. To teach him his name, we started calling him 'Zhenya-Derek', then eventually dropped the Zhenya. The only Russian words I knew was 'da' and 'nyet' (yes and no). So I began using the sign language I had learned to use for my daughter, signing and saying the word at the same time. It took a very long time for Derek to say anything at all, plus he had a bad drooling problem. Eventually, he did begin to understand receptive language, but still he rarely spoke expressively.
We saw that Derek did have some weird behaviors that mostly came out when he was stressed by a new situation. He would literally drop on the floor and begin violently rocking back and forth, humming loudly while sucking his thumb and closing his eyes. He also did this to put himself to sleep. The first few times I gave him a bath, he totally freaked. He was absolutely terrified! I had to resort to using the shower or a sponge bath for him as he wouldn't sit down at all in the tub. There were many challenges with our new son, some of which were obvious developmental delays and some of which were orphanage related.
I then called our school system's early intervention program and someone was sent to our home to evaluate Derek for developmental delay (which I already knew he had). Of course, he immediately qualified and various therapies and half-day school was begun. A school bus picked him up right in front of our house and dropped him back off home. He loved the school bus ride!
Then I called one of the two biggest teaching hospitals in Baltimore, Maryland, and made a genetics appointment for Derek. He was thoroughly observed and photographed by the very caring geneticist. Not long after, I received a call from the geneticist and was told that Derek had Kabuki syndrome, but his chromosomes were normal. I blew him away because I already knew what that was! The reason I knew was that our late daughter had attended early intervention AND day care with a little girl who had Kabuki syndrome. This little girl also had the exact same heart surgery as our daughter (it failed for our daughter, but worked for her), by the same cardiac surgeon, at the same hospital, just 4 months after our daughter had died. I don't believe in coincidences.
In addition, it turned out that our geneticist's 'specialty' was in Kabuki syndrome. He was very familiar with it as it greatly interested him. Again, I don't believe in coincidences.
I then researched everything I could get my hands on regarding Kabuki, but there wasn't a whole lot and the Internet wasn't available then. I began making appointments with many specialists to check on the major anomalies involved with Kabuki. I took Derek to his new pediatrician who discovered the mild heart murmur also, plus the fact that both testes had never descended. A cardiologist confirmed the heart murmur, which is caused by Derek's heart having a bicuspid aortic valve. Normal would be a tricuspid. It's caused him no problems, but is monitored on a yearly basis. A pediatric urologist confirmed that his testes had never descended and surgery was scheduled, the first of many. Derek was checked for horseshoe kidneys and his were discovered to be normal.
Gradually, Derek settled in and we learned how to properly care for and help him. Thanks to our daughter, who taught us a lot more in her six short years than we ever taught her, it lessened the challenges for us as we had already been there, done that.
Due to all of the above 'coincidences' (that I still don't believe in), it became quite obvious that we received the child we were meant to receive, just like any biological parents. His first set of parents were good people, I'm sure, but they hadn't a clue and the behaviors scared them. They did the right thing for both Derek and us. They were able to return to the orphanage and adopt a 'typical, normally developing' child. I was happy for them, but then, there's no guarantee on 'normal'...anything can happen in life. We wished them well.
As many of you read this story you know the feeling when a standard ultrasound at 12-13 weeks leaves you feeling empty knowing that something is not right with your developing son or daughter. The indicators were a thick nuchal fold normally indicating 'Down Syndrome'.
The stenographer could also only see one kidney and an irregularity in the blood flow of the heart which he guessed could be a Congenital Heart Disease (CHD) known as 'Tetralogy of Fallot'. We opted for a CVS scan which could be completed around 14-15 weeks and the results a few days later showed everything as 'normal'. The roller coaster ride of emotions begins now knowing that this baby may be fine based on the latest results however we were then informed to 'not get our hopes up just yet' as there may be other issues which could be not be detected until 19-20 weeks by a heart specialist. At 19-20 weeks the diagnosis was confirmed and were told that other birth anomalies were possible post birth and the terms VATER and VACTERL were mentioned.
Ryder Cooper Withers was born at 38 weeks at the Mater Hospital on 2 June 2011. He weighed 2480 grams (5 pound 10 oz) and had more than the usual specialists around to cover any complications. I remember his squeal as he came into the world and he had a short time with mum before being moved to an area to have quick physical inspection. He was slightly blue and the first of the anomalies presented itself in the form of being born with an imperforate anus. Ryder was taken to the neonatal intensive care area and underwent an emergency bowel surgery on Day 2 and given a Colostomy to allow his bowel to function normally. We then had new experiences in dealing with colostomy bags etc but we were given some great support from the hospital. Other anomalies later found included a set of missing ribs, hemi-vertebrae, clavicles not fused and some unusual shaped toes on his left foot as well as a duplex kidney.
Ryder had his first heart surgery on Day 9 (BT Shunt) and from this point was moved from the NICU to the Paediatric ICU. The heart surgery went well but nothing prepares you for the degree of life support that he was hooked up to post surgery. To us it looked like a lot of confusion going on and the feeling of helplessness when you have to trust another person with your little one's life.
We were sent home and he seemed to grow reasonably well for the first 4 months getting to 4.5kg however everything slowed at that point. He remained NG fed along with breast feeds and then bottle fed however 'fail to thrive' was evident. Ryder seemed to be very small and not gaining weight for no apparent reason. We had dieticians involved telling us to give him high calories. At 10 months of age we are only just over 5 kgs.
On 24 May 2012 Ryder underwent open heart surgery to correct the issues within the heart. All seemed okay however around 1 week post-surgery his condition deteriorated and he was taken back to ICU. In June 2012 he suffered a full cardiac arrest and had to be given emergency drugs and treatment to save him. Over the next 2 months his condition baffled the Doctors however after placing a hole between the top two chambers of his heart it allowed him to shunt deoxygenated blood which increased volume around his body. From that point he started to improve however an MRI showed a depletion of oxygen to the brain causing a large degree of atrophy (shrinkage).
Around this time I was raising money for Heartkids QLD and his story was told on the Channel 7 news in Brisbane. As it turns out a Doctor from the Genetics area of the Royal Brisbane Hospital saw Ryder and knew immediately that he was a 'Kabuki Kid'. She paid him a visit and identified a number of characteristics such as the pads on the fingers, low muscle tone, hearing issues, mouth and ear characteristics and also the fail to thrive. In a nut shell he was born with CHD, VACTERL and KABUKI. The diagnosis changes nothing in the way we care for him but does provide some additional answers as to why he is slow to grow.
Ryder has had to relearn to eat and drink and he lost the ability the swallow effectively. Pre surgery he was doing well with his eating and post we were lucky to get a teaspoon of food in. He now eats bowlfuls of puree and mashed or lumpy foods, such as Weetbix, vegies, avocado and fruits, but especially loves his milo chocolate mousse for dessert every night. He has finally gained back the weight he lost from the removal of his NG tube now eating and drinking independently of supported feeds.
Ryder turned 2 on 2 June 2013 and weighs in at 6kg. He looks the size of a 6-9 month old. He is getting better co-ordinated with his hands but will not put items of food to his mouth independently. He much prefers to throw items from his high chair and then wave good bye to them. He understands humour which is really nice as it took nearly 80 days post-surgery for him to smile again.
Developmentally, Ryder has been able to sit independently since about Christmas, and chooses to do so more and more as he gains confidence. His core strength is getting better each day, and is now putting up with some tummy time, although his little arms cannot hold him up as yet.
Ryder has a Facebook page called 'Ryders Broken Heart' with over 700 followers. The page has allowed us to keep friends and family up to date as well as have others with similar issues follow his progress and contact us direct to seek support and/or answers to some questions they have.
We enjoy reading about other kids with Kabuki which helps put into context some of the issues the parents and kids face which helps better prepare for his coming years of growth and future schooling. The future still remains largely uncertain, especially in relation to his brain function, but we are hoping we can educate him in as much of a main stream school as possible as he loves interacting with kids his own age, and learns so much from them.