Chromosone disorders

[Pineapplecake23]

Has anyone's child/baby been diagnosed with a chromosone problem?

What happens with diagnoses? Going through referrals now but not sure how the genetics department test for it or anything really. I don't know anything about the disability. I don't know how it will effect her growing up or even which one they are testing for. She is 17months, delayed, behavioural issues, doesn't communicate and something about her nose bridge is making them think so.

I just don't know what I'm meant to do and I flit between thinking the worst case scenario to a they got it wrong.

My DC don’t have a chromosome disorder but have had genetic testing. DC had array CGH testing (blood test) then whole genome sequencing (also blood test). So far, it hasn’t found anything other than the genetic condition we already knew about, but it is a very long process and patients receive more information years and years down the line.

Ah I Don't suppose you know with a missing chromosone how they start getting treatment to manage it prior to the confirmation if it takes ages :( I'm quite worried about not getting her support in place that she needs. Xx

Apologies, the array CGH doesn’t take years and years. That should show if there was e.g. a duplication/micro-deletion/ring… of a chromosome. Some who have Whole Genome Sequencing don’t receive answers for years and years (or at all).

Sometimes knowing there is a genetic cause doesn’t change care/treatment. Sometimes it does.

Lots of support is based on needs rather than diagnosis. Is DD under OT, SALT, Portage and maybe physio depending on DD’s needs? Have you claimed DLA?

No I only she saw the pediatric doctor this week, he immediately referred to physio, did x-ray then and there. Letter to go to health visitor for speech referral. Said he is meeting again in 3 months and will do genetics referral then, as I am having a gene test for myself so wants my results in and family history first.

But at nursery today they seemed surprised and said she seems fine so now I'm questioning if he got it wrong :/ I don't know what to do tbh, I've never heard of chromosone disabilities before, it was the last thing I had considered. So when I'm getting different views from people I don't know what to think.

Personally, I wouldn’t trust the paed over the nursery. There is a reason DD was referred to paeds in the first place. Unfortunately, nurseries don’t always spot signs of additional needs.

When you speak to the HV about the SALT referral, ask about a referral to OT and Portage. Or you may even be able to self refer.

Apply for DLA. Call for the form and use Cerebra’s guide to help you complete the form.

Unique is a charity who supports parents whose DC have chromosome disorders. It is worth looking at their website if it is found DD does have a chromosome disorder.