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Fabyan DOB: 17/02/04
Mosaic Ring 22 Trisomy (like Cat Eye Syndrome) Mom Alison
Fabyan was born on 17th February
2004 at St.Michael's Hospital, Bristol.
The thing that was noticed
were the symmetrical pits that he has on the sides of his ears. The
next day a geneticist came to ask us questions and we also noticed
that Fabyan had irregular shaped pupils. On day 2 we left the hospital
with a lot of follow up appointments to test most parts of his little
body. At 2 weeks of age we were told that Fabyan was to be registered
blind due to bilateral coloboma.
At 3 months of age we were called
in to see the geneticist who told us Fabyan had a rare chromosome
condition called Mosaic Ring 22 Trisomy and that he would have similar
anomalies to a child with Cat Eye Syndrome.
We have since learnt that I also
have Ring22 so I have passed the extra material to Fabyan.
Fabyan was born with the sutures on
his skull fused together so at 8 months he had surgery for
sagittal craniosynostosis-which gave room for his brain to grow.
He has also had 2 separate
operations to bring his testes down and most recently had his tonsils
removed and grommets inserted into ears-which will hopefully stop the
recurrent ear infections.
At 3 years Fabyan is
developmentally delayed, just about able to stand alone, non-verbal(
except for Mama), unaware of toiletry needs and has feeding issues(
mushy consistency).
He has recently started finger
feeding himself.He hums his favourite tunes and LOVES music and water.
Fabyan is very contented and happy and is always smiling and laughing.
He loves cuddles and kisses from anybody who is willing!! I feel
blessed to have him as my very special son!!!
Alison |
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