Hi, I haven't posted on here for quite some time... not sure if anyone will remember me now
My DS2 who is now 7.3y. has a dx of ASD, and speech sounds disorder. He also has slight hypermobilty in his joints (mainly wrists, fingers and ankles) and he has unfrequent mild focal epileptic episodes.
He has had "more or less" ongoing speech therapy since age 3. Two years ago his SALT mentioned that it would be worth checking if there could possibly be a structural /physical cause for his speech sounds disorder.
DS's speech is very nasal and he is unable to say some consonants and other sounds. He also has facial grimacing when he speaks which we thought was to do with his ASD but SALT said the speech sounds issues could be a reason too.
As a baby he had lots of reflux through his nose and weaning him onto solids took forever as he didn't want to chew and seemed to gag at times on small lumps.
Fast forward a bit after a palatal investigation DS has been found to have a velopharyngeal inadequacy (VPI). He is now due to have corrective surgery on his soft palate at the end of the month. The team at the cleft centre were keen in offering us a referral for some genetic counselling.
This we had yesterday at our local hospital. At the end of the appointment, the geneticist said she would like to test for some anomaly on chromosome 22 as it is linked to palatal abnormalities like DS's. In particular 22q11 deletion.
So last night i was wondering if this could be the cause of all of DS' issues.
I googled it and have totally confused myself!!!
I can see that yes DS has a few of the symptoms associated with 22q11ds but there is also a lot that doesn't apply to him.
For instance the facial characteristics which are common in children with the syndrome, other than a long face shape nothing applies to him also DS isn't prone to catching viruses and infections,...etc.
Any words of wisdom anyone?
I'm doing this again...worrying and trying to guess before we have answers. Did this a lot before his asd diagnosis.
I'm also cheesed off slightly as it took us some months to relax a bit and come to terms following his asd dx. Now they have thrown this new thing at us.
Maybe I'm been silly as even if he has the 22q deletion, nothing will really change other than another label.
Sorry for long post, needed to get it off my chest. Thanks for reading it
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Genetic counselling for DS yesterday and testing on chromosome 22. Feeling a bit lost now...
16 replies
genieinabottle · 06/02/2013 10:37
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