signs of severe/profound disability in babies

[Ty6]

Hi there! I have a 10 months old girl with a deletion on chromosme 3. As her disorder is quite rare couldn’t get much information from doctors. I’ve done my research, found a few families with a similar deletions and most of their children have quite severe intellectual disability. My daughter is delayed, started to sit up after she was 9 months old due to hypotonia. She’s eating well. When she was born she was tiny, wasn’t even on the chart, now she’s on 50th centile. She lives in her own world, doesn’t smile too often and it takes a while to get her attention although reacts well to her name. loves watching cocomelon!
Are there any moms with a disabled babies/children and what were the first signs?
Are there any moms with disabled babies that lives in London?

I just wanted to say she’s absolutely beautiful! Hope you find some families in a similar situation.

What a lovely picture! I can't help with this myself but I know someone who found a group for a different rare condition on Facebook so might be worth searching for closed groups there? (Though obviously be cautious in sharing personal info etc as with anything on there). Hope you manage to connect with some other families.

She is absolutely gorgeous! Could your GP or Health Visitor help signpost you to some groups?

You probably already know but there is a site www.chromosome3disorder.com which has a support group for your daughter's specific condition and they might be able to connect you to other families in London? Best of luck.

She's beautiful. Are you in north London?

Thank you so much x

@Malificent1 thank you so much!
@Danascully2 I added myself to a Facebook group but didn’t really find anyone with the same deletion or no one who lives close to us. @SheRasBra I found this website already thank you.
@doadeer we live in NW London.

Shes gorgeous xxx

Have a look on Facebook at Challenge Group

Sorry not much to help with but she's so cute! Beautiful girl x hope that you find some other parents to talk to and most of all enjoy your lovely daughter x

Does your daughter have a portage worker? They could be a good source of advice about next steps with her development and also help you to find links to other families in your area too. If you don't it could be worth talking to your health visitor about being referred.

If you Google your area and 'local offer' that could be a good place to find information about groups and things too. It might be more general support groups rather than for specific conditions but depends on what's available in your area.

gorgeous girl! Love the little pigtails, I remember doing that with mine once her hair was long enough.

She’s beautiful, that’s a lovely photo. I’m not in the same boat, but a special needs teacher. I used to use the ages and stages questionnaires with my son during Covid when I was worried about his development and you couldn’t see a health visitor. You can Google them, as well as the scoring sheets. But here’s on for example. They have them for every couple of months and it’s what the health visitors use for their reviews. They also have suggested activities for whatever areas they might need more support with. Also, don’t worry, most babies have loads of areas they’re not doing yet.
www.broomfieldpediatrics.com/ages-stages-questionnaires/
Good luck and I hope you find some local parents to connect with.