Chromosome abnormality

[JSSB]

Ever since she has been a toddler we have had concerns over our daughters development. She is now 7. Recently I've been particularly concerned over her physical development and a friend mentioned dyspraxia to me. I mentioned it to the school but as she is doing well academically and has no behavioural issues they were not concerned. However I was not happy with this and saw my GP to ask for an appointment with the paediatrician. We saw the paediatrician today and she agreed our daughter definitely has some motor skill development issues and has been referred to OT. She has also flagged an issue with the development of her feet which she is being referred for and is also being referred to ENT for some issues with her breathing. A lot to take in but nothing unexpected. However we were really shocked when we were also told she has some markers for chromosomal abnormality and would be referred for testing. I'm finding it really hard to understand how this could have been missed until now. Does anyone have experience of this? She said it was unlikely any abnormality she had was related to learning disability but could have long term health implications. She mentioned the test results could take up to 3 months - is this right? Does anyone know a private provider that could do it before then. As you can imagine we've done the worst thing and googled the signs she talked about and there are some quite serious consequences and want an answer ASAP. Thank you.

[beautifulgirls]

The tests DD had done took around 3 months due to the detailed techniques they use to look for even minor changes on the chromosomes. She was only diagnosed when she was around 7yrs old too and in her case they found a small fragment missing from one of her chromosomes. It helped us to understand a number of symptoms that she has and link them together. In her case we were "lucky" enough that her particular deletion is one of the more common ones being found since these newer techniques came into regular use and at the time there were a lot of research projects happening and information coming out. What I learned for myself was far more than the medical professionals themselves could tell me as I was able to find papers and other parents online to help me understand. She doesn't suffer from all of the problems some of the affected individuals have but then there are others who are seemingly asymptomatic too and only discovered later on when they are tested due to a child or sibling being clinically affected. When my husband and I were tested neither of us has this particular abnormality so DD is considered "de novo" ie it happened spontaneously for her although she is at 50% risk of passing this on if she has children of her own from here.


I don't think you can rush the test results private or otherwise but be patient and keep working with the issues for your DD as they come about and focus on this for now. The information it gives may or not be helpful and in some cases they still don't have answers with apparently normal genetic tests but children who clearly show markers and symptoms suggesting that something genetic is underlying their condition. I found facebook a really useful place to search for info - I put the "code" in that defines her genetic problem and found several parents groups on there to chat to. We've even met up with another family local to us through that who have the same deletion.

[JSSB]

Thank you so much for your detailed response. The paediatrician was particularly concerned with her cafe au lait marks and that her little fingers are curved. Neither of which I'd noticed which made me feel really bad although even if I had seen them I don't think I'd have thought anything of it. Have you spoken to your daughters school? I don't know whether to raise it with them until have diagnosis.

You sound like you're doing a wonderful job supporting your daughter.

[Paradyning]

The analysis takes so long due to the complex interpretation rather then the test itself so no point in going private. If that comes up with nothing then look into the 100k genome project x

[beautifulgirls]

We already knew she had some problems when she started at school and over time we learned more about these. She moved in year 3 to a specialist school and all things considered is making acceptable progress there and she is very happy. She too has café au lait marks and curved fingers and toes. I'd pointed these out when she was quite young to medical professionals and been dismissed! It was an educational psychologist who mentioned them to me when she was 7 that pushed me to push the professionals again and that's when they agreed to the genetic testing...whilst eye rolling and telling me it wouldn't show anything! Never feel afraid to advocate for your child and don't let people fob you off. If I had £1 for every time I was told she would catch up or that it was all in my mind I'd be rich!