2nd CDC appointment on Monday - WWYD?

[HHH3]

DS2 (3.3) had his first CDC appt last September. The paed said that she felt his only problem was his speech and that would be dealt with by SALT. This was despite me raising concerns that he has hit all his milestones late/just within 'normal' and has a massive head and prominent forehead. She said his head is 'just him'. She said that she'd see him again in 6 months and unless anything else has come up she'd then discharge him.

I did ask about bloods/genetic testing but she said that as he's not globally delayed she wouldn't put him through that as it's traumatic. (He's had blood tests for something else before, they were brilliant with him, and he didn't find it traumatic at all).

Since then he's been diagnosed with a speech disorder. It's been noted that his concentration is poor for his age and he can't sit still (although I've found that a weighted lap pad helps him sit and concentrate).

If I'm honest, I think there's something genetic going on with him, and have since he was tiny. But it's only my gut feeling and I've never been able to pin it down any more than that. There's nothing substantial I can point to.

I really do want him to have genetic testing but not sure whether I can push for it or not. Can I? Or will I be told to stop being silly and, speech aside, he's fine?

[coffeemachine]

I had to push hard to get DD tested for chromo issues but eventually the paed gave in (she has ASD and severe LD) - turns out she does have a rare disorder.

tbh, having a genetic dx does not make any difference in terms of support/treatment (we get nada on the NHS). there are lots of rare chromosome disorders and being dx with it basically only tells you what the underlying reason for your childs difficulties but nothing else.there is usually no magic pill for developmental disorders. If you are not planning further children right now, I wouldn't get stressed about it and rather focus on support for his needs.

[HHH3]

Thanks coffee. Definitely no more children! I know it won't change anything and there's no cure. It's hard to explain but I guess I'd just be a lot happier knowing if there's an underlying cause...and possibly if it might have any effect/s in the future.

[coffeemachine]

I was hoping for the same answers (re future) but non the wiser. Dd's genetic issue is extremely rare (10 known cases) and the very few people who have it are all affected very differently.

[lamya190]

www.mumsnet.com/Talk/special_needs/2453878-Autism-and-genetics-siblings-risk-please-clarify

Hi there,

This above link may provide a bit more insight into genes and developmental delays. My son was diagnosed with high functioning autism last September we decided not to go for genetic tests as I thought we would be able to see if one of us carried an ' autism gene ' or something but apparently u can't tell!! So I thought there would be no point.

[coffeemachine]

there is not the autism gene. there are lots of genes which are known now to cause ASD (but according to our geneticist, only for a minority of those tested a GE etic issue is identified). if your DC does have a chromosome disorder, then usually the parents have the option of being tested too to see if either of them carries the same gene defect. makes sense to find out if you consider more children. I was mainly concerned about my NT DC2 and the possibility that DC2 could also be a carrier of the gene. we got now answes to all these questions.