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DS referral to geneticist

5 replies

Tambaboy · 14/07/2014 10:45

DS has been referred to the geneticist by his ENT doctor.
DS 7, ASD dx and hypermobility. He has mild sleep apnea, breathes through his mouth and has enlarged tonsils. His hearing is within normal range. Review in 6 months ,so far so good.
At the last appointment, the consultant started asking questions about his general health, how is school, any balance or coordination problems and loads of other questions. It was quite difficult to talk in front of DS but the nurse kept him entertained.
He suddenly suggested a referral to a geneticist.

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Tambaboy · 14/07/2014 10:48

Sorry, pressed post too early.

DH says to go for it, but I'm in two minds as DS is going through Statutory Assessment and I don't want him to go through any unnecessary appointments.
Has anyone been through genetic testing?

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chocisonabikinidiet · 14/07/2014 11:14

we did. it involved taking blood from DD and they discovered a small deletion which in all likelihood explains DDs problems.

DP and I were then tested to see if we passed it on or not (we did not). but I am glad we did. we now know that we are not carriers of DDs chromosome disorder (and can safely assume that our NT DC is not a carrier either). We also know that DDs chromosome disorder has a high change of being passed on to her children. it is unlikely that she will ever have DC herself, but you never know. It give us a few options if it were to come to that point in the future.

I am glad we found it.

mumsuz · 14/07/2014 12:30

We went to see a geneticist (after the first stage autism assessment). The paediatrician said that it was because of some of DD's "peculiar movements" (rocking, flapping).

Firstly they took some blood from DD (just at a local hospital) then once the testing had been done, we saw a genetic consultant in person who did a check over of DD (just looked at her and checked her over really). Then we got a follow up report which said that her problems were most likely genetic but nothing had shown up on the blood testing. They also asked us if we wanted to go into the DDD study (dechiphering developmental disorders, I think).

It was all pretty quick painless, even though for us it didnt throw up any underlying cause.

Good luck.

2boysnamedR · 14/07/2014 14:03

My son had genetics testing a few months back. It was just a blood test which he didn't feel as they numbed his arm. He has a duplication which explains a lot. It proves he will not magically grow out of a funny stage.

However the news for us was very hard to digest it didn't put him under any stress. It has given us some much needed answers. I think he deserves to know this if was to have kids of his own.

Tambaboy · 15/07/2014 10:37

Thank you all for your replies.

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