DD diagnosed with rare chromosomal deletion - anyone here for hand holding on the journey? Please help!

[gee83]

DD 6 months has been diagnosed with cri du chat. We're waiting to see a geneticist but thought I'd reach out on here too 😊

I don't know anything about cri du chat, but I have a genetic disorder, so I can relate to having a rare disease.
How did you find out?

@gee83 you're welcome to join us on our ongoing special needs thread

www.mumsnet.com/talk/special_needs_chat/4959088-the-goose-and-carrot-pub-christmas-is-coming?latest=1

Unique is a charity that supports families with rare chromosome and gene disorders.

Thank
You for reaching out.
Her birth mum has it so we got her tested.
Does yours impact you?

Oh brilliant thank you.
Is it labelled something about carrots and a pub? 🤷‍♀️🤣

Oh brilliant thank you. I will have a look at that 😊

@gee83 I have NF1, short for neurofibromatosis type 1, a tumour inducing genetic syndrome that also has several other manifestations such as osteopenia, dementia and vascular disease. I control and manage Nf1 quite well.
As PP have said, with rare diseases, you need to look into patient representatives groups for support and education.

So her birth mum has it and I would assume she is minimally impacted by it.

Thanks so much for sharing. That's so good that you're managing it so well too.

Birth mum has some mild impairment but we don't know how this will have been passed to the baby. Whether it could get worse by passing it down.

Hopefully not!

Definitely fingers crossed

At least with early diagnosis you can have early interventions.

That's exactly what we're hoping for.
Hoping we'll get to see the geneticist early in the new year.

Best wishes!!

Thank you. I appreciate you reaching out too