intro- hey all

[bloombox]

I’ve read quite a few posts over the past year and find this to be an incredibly knowledgeable group. I hope you all will have me. My 18-month-old was recently dx with a rare genetic syndrome through WES testing. & although the knowledge of a dx is empowering, it's also been incredibly difficult to navigate. The main components of the syndrome include visual impairment, intellectual disability, & global developmental delay. In addition, there’s the potential for autism, seizures, and progressive hearing loss (he has bilateral mild loss now). It’s been hard.  I’m not even sure how much or how little I’m supposed to say here. I know there aren’t any rules. I’m generally pretty private about his health issues, but would love to find the right outlet to bounce ideas off of and such. Anyway, hey!

[numbbears]

Welcome! It's hard to be open about things when you're still getting use to them and unsure of what the future will be like. I've just started being more open about DS's dx with extended family. Is he in any type of therapy?

[bloombox]

Dec 2, 2016 15:14:47 GMT -5 numbbears said:

Welcome! It's hard to be open about things when you're still getting use to them and unsure of what the future will be like. I've just started being more open about DS's dx with extended family. Is he in any type of therapy?

thanks, that's true.  yes, he is- he's in PT, OT, speech, & he gets visual therapy.

[cam]

Welcome. It can be hard to decide how much you want to share and with whom. You can always add details if and when you see fit in future discussions, so don't feel you need to share everything right away (on this board as well as IRL).

[chickypoo2468]

This sounds like my O!! Can I ask the name of the syndrome? We don't have a diagnosis yet

[mrsbuttinski]

Hi bloombox,

Welcome to the best board you never wanted to join.

This is a very civil place- feel free to share details if it helps. If ever you want something deleted, tag me and I'll take it down.

I hear you on the difficulty of processing a dx. Sometimes, after getting one, it becomes obvious that dx is not prognosis. While you have a name and maybe even an understanding of why your child is affected, details about the future are no clearer to you.

[mamaturtle]

Welcome to our board!