CHROMOSOME 22 CENTRAL 
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ALL CHROMOSOME 22 RELATED DISORDERS 

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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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