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Megan's Story


Megan was born in March 1999 at 36 weeks weighing 5lbs 5oz. It was instantly established that she had a cleft pallet and because she was prem was whisked away to special care where she spent her first few days. She was diagnosed with Pierre Robin Syndrome which explained the cleft pallet and small jaw and subsequent feeding problems that followed. She was allowed home after 10 days but was admitted back to hospital after 6 weeks as she was failing to thrive due to her feeding problems.


A habermann bottle was introduced and for a while it worked, but we were admitted a further two times within the next few months and finally an NG tube was inserted to feed her when she was 4 months old. Then when she was 1 she had a PEG inserted. For the last 5 years she has had a button and continues to be feed via this but does eat the odd thing as well. As she got older it became evident she was not meeting her milestones, with crawling, walking and talking and she was diagnosed with Global Development Delay. She was about 3 and a half before she could walk unaided and say a few words.




At the age of 7, Megan started having nocturnal seizures. They either happen just after she goes off to sleep or just before waking in the morning. She had her first one at 5am one morning, luckily she was in bed with us when it happened but we had no idea it was a fit as she was drooling and totally unresponsive so in a panic we called an ambulance. After an MRI scan and tests she was diagnosed with seizures and put on medication. Unfortunately, the medication does not stop the fits but she normally only has 3 or 4 seizures a year and we have medication that can bring her out of a fit when they happen. Megan was not diagnosed with Kabuki Syndrome until 2008 when we went to Florida with my eldest Stepson, Aaron and his wife Michelle who is a genetic counsellor. They live in Colorado in the USA and when Michelle went back to work she showed her holiday snaps to her colleagues.


One of her colleagues, a geneticists, saw a picture of Megan and started asking about her condition and on hearing some of her medical problems and seeing her features was convinced she had Kabuki Syndrome. We in turn went back to her consultant with this news and were referred back to a geneticist and Kabuki Syndrome was confirmed. Over the years Megan has had several hospital admissions with various illnesses. The lowest point was in 2008 when we had 3 admissions with double pneumonia, one of them being over Christmas. Because of her repeat bouts of pneumonia she was referred by her respiratory consultant to an immunology consultant and tests were carried out on her immune system. It was found that of the 3 Immunogloblins, IgG, Ig A and igM in your immune system, Megan was lacking in 2 (A & G). There is nothing you can do about a lack of IgA but there is about a lack of IgG. Megan was started on weekly subcut infusions of IgG which I do at home. The infusion takes about an hour but she has not had one bout of pneumonia or hospital admission since she has been having this treatment. She is also started on a course of antibiotics if she gets a virus as a precautionary measure.


In the summer of 2011 Megan was also started on daily growth hormone injections as she was not growing very much. The injections seem to be working as she is growing twice as fast now. Megan is pleased about this as she was worried her sister, who is 3 and a half years younger than her, was going to be taller than her as there was a time when they were the same height. Now Megan is a good 2 inches taller than her.Megan is now nearly 14. She attends a Special Needs School which she loves. Although she can only read the odd word and just about write her name as her fine motor skills are not great, she has a great level of understanding and a brilliant memory. She also has a really good level of communication. She is a sensible girl with a very placid nature, although as she is a teenager now we do get a bit of attitude as well! Also as she is getting older she is becoming much more independent.


Megan has come on in leaps and bounds over the years. When she was young we could not take her to family parties as she could not cope with the noise or all the people. Now she loves it when all the family are together and enjoys our family holidays each year when the 26 of us all spend a week together. She also use to be physically sick if she took part in a school play now she sings solo in them!


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