I have a little girl - Thalia Maia, born 7th May 2010 - who was diagnosed with Kabuki on 24th December 2010.
I had a very difficult pregnancy. At 30wks I had a "show" and went to hospital expecting them to tell me I was being silly. Instead, they told me I had something called "polyhydramnious" (lots of excess fluid) - I was measuring 51wks pregnant! I had a scan 2 days later and they said that Thalia had something called "Foetal Ascites" (basically mirroring me, with a lot of unexplained fluid in her tummy) and I had to go to Kings College Hospital in London to have more detailed scans.
We went every week for 5 weeks - I had to have 1.5ltrs of Amniotic Fluid drained from me every time via a needle and Thalia had various scans, even seeing the top sonographer in the country - and still, no one could work anything out! My fluid was tested for every genetic test they could do - still nothing! She was nicknamed "Mysterious Girl" and that was that!
At week 34 I was told I had pre-eclampsia and I would have to have a c-section (which was planned for 39wks) as Thalia would die if she came out "naturally" because her chest would implode, and her lungs would splinter.
To cut a long story short, they said my blood pressure had come down and sent me home but I went through the same thing the next week. I was rushed back down to Brighton for an emergency planned section, but no - they left me. My waters broke at 3am, and I contracted every 4 mins until Thalia was born at 10.37am after an emergency section. She was rushed off to SCBU and they told me not a single thing more until she was 5 hours old - I was bordering on hysteria!
Anyway, they told us they thought she had some "syndromey features"- broad nose bridge, "hammer" toe, little fingers pointed inwards. But she was so swollen they didn't know that much! After 3 weeks of hell – leaving her every night/juggling taking care of our other daughter/C-Section Scar infection and other serious health scares for me and she was managing OK, and bottle feeding - she was allowed home! Yay!
That was on June 1st (she was born on 7th May - and due on 9th June). At the same time every month, she was vomiting every feed, and coughing lots. I was told in July and August that this was just a viral infection. When she got it in September, I decided enough was enough - too much of a coincidence that she is getting it at the same time EVERY month - so took her to see the family doctor. He looked at her, diagnosed her with "failure to thrive" and we were sent to hospital where we stayed for three weeks. We pretty much missed the whole of October! She went in bottle feeding every 4 hours, and sleeping through the night, and came out tube feeding every 3 hours and us having to do feeds at 6am (even though she was asleep and sick every time) and staying up (or setting alarm) for feed at midnight too - again, same scenario! She had an “NG-tube” to feed her via her nose for 6 months, and still suffered severe sickness .In December 2010 we saw Adam Shaw, a geneticist at Guys in London, and then a few days later got the diagnosis of Kabuki Syndrome. After Googling lots, and being sent a 23 page document full of every possible complication that had been ever been found, we freaked out a little bit!
Since then, Thalia had to undergo major surgery on 4th April 2011 to have one of her kidneys out – which was dysplastic and only functioning at 8% - her “healthy” one is functioning at 92%. She also had her Gastrostomy peg fitted, and her evantrated diaphragm fixed. However, we have since been told that this wasn’t successful, and she will have to undergo surgery again for this. Whilst operating, her surgeon also advised that he had discovered the following problems: she has a very small stomach, a very large gall bladder and her colon and bowels aren’t “fixed” anywhere, so are floating around freely. Typical Thalia – went in to have 3 things fixed, and come out with 4 more problems!
Thalia spends a lot of time in and out of hospital with things such as aspiration – where she is sick, and some of the vomit goes into her lungs - and she has also been hospitalised with bronchitus and pneumonia. She still has an oral aversion to food, and doesn’t eat anything at all at this time. She is fed via a pump every 4 hours and although her vomiting is a lot better than it used to be, it is still a worry, and she has even started making herself sick when she has to do things she doesn’t want to... i.e – go to bed! However, she is also thriving in many ways. She started at nursery – 4 days a week – 3 days after she turned 1, and she LOVES it! She is such a sociable little lady, and the staff are fantastic with her, we are really lucky! At the age of 2, she is doing OK! Her speech is pretty much non-existent, but she does do some Makaton, and mimicking. On 17th April, she took her 1st steps, and then on 28th April, she started “walking”. She does take a while to “get” things, so we know that we are on a rollercoaster ride, but as well as being scary, rollercoasters are also fun! Her older sister Maisie is aware of her syndrome, and is a true angel with her- we are really lucky! cannot begin to describe how much I rely on my “Kabuki Family” Without being able to speak to them, I don’t know what I would have done!