Cat eye syndrome anyone?

[Honeyybee]

Hi

my gorgeous 3.5 year old little boy has just received a diagnosis on Friday of “ cat eye syndrome “ anyone have a child or been a parent of a child with cat eye syndrome ?

I’m not sure what im
Going to get out of it other than just feeling less lonely. Apparently it’s very rare. I think im
just so shocked because he has no dysmorphic features at all and in the cat eye syndrome you usually almost always do. It’s hard to get my heads around because of that.

he was born with TAPVD heart condition but fixed at birth and no issue heart wise since. Then when he just turned 3, I took him to ophthalmologist as. I thought he was moving his eye wierd , turns out he had un diagnosed coloboma which is large and he is quite blind in the left eye. Both eyes together work fine. We thought that was that, but apparently coloboma are common in syndromes so they sent blood sample for genetic test ( micro array test only ) and wanted to check for charge syndrome , anyway charge syndrome came back clear but in the process they actually found his diagnosis… cat eye syndrome. He doesn’t have the cat eye shape and you would never tell he has a coloboma either. I just feel sad, I wish the test came back clear but now I am full of worry that they are going to keep finding things wrong with him :(

xx

Hello, I didn't want to read and not say anything. He's your gorgeous little boy, and you've had a huge shock. Give yourself time to sit with the feelings, and accept them.

Have you had a look on social media if there are any other parents going through the same? Though, everyone will have a different experience so try not to get overwhelmed.

Take every day at a time, and have fun with your beautiful boy x

Have you been in touch with Genetic Alliance UK? https://geneticalliance.org.uk/ they may be able to point you towards some support.

As pp says, this is a lot to take in, allow yourself to feel what you feel.

Hello thank you both for replying! Actually I have done now and I’ve found a group although only 150 people in it. I guess not everyone would join though. I’ve been told by the dr that you can have this and never find out. Maybe I have to appreciate and feel lucky that if all other tests come back ok then he has a mild version of this. Syndromes are so large spectrum aren’t they it’s hard. Thank you both x

I'm glad you've found a group, having other people to chat to will help.