Here some suggested organisations that offer expert advice on SN.
Genetic counselling for DS yesterday and testing on chromosome 22. Feeling a bit lost now...(17 Posts)
Thanks for the good luck for the op next week
The operation is pharyngoplasty and the surgeon (mr.C) explained he will cut out two bits on either sides at the back of his mouth and re-attach them to close the gap between the palate to prevent the air escaping through his nose.
Well, something like that a bit...
I have stocked up on soft foods that he likes... jelly and sloppy macaroni cheese
It's hard to know what DS actually thinks or understands about his op because he just doesn't say anything about it and totally ignored the surgeon when he spoke to him last wednesday... very typical of DS actually.
DD (13) has 22Q1.1 Deletion Syndrome. She has had a pharyngoplasty and a revision. At 4 when she had the original operation it was a nightmare - she wouldn't eat for over a week. However, the revision, by which time she was 6 was easier as she could be reasoned with by then! Hopefully your DS will understand about the need to eat, and to take medicine!
Other than the VPI, now completely fixed, DD has not shown any of the sinificant symptoms of the listed 184 of 22Q1.1 D - it seems to be a very variable syndrome!!
As you say, a label doesn't actually make any difference and if he hasn't shown any other symptoms of 22Q1.1 D then he is unlikely to suddenly start now just because someone has suggested it!
All the best for the operation.
Genie - Spires Cleft Centre is good. DD has her SLT out of there, but via Oxford. They are centred in Salisbury and the JR Oxford. The Cleft Surgeon in Oxford is Tim Goodacre who is a lovely man. Are they lengthening the palate or just repairing the soft tissue. Anyway, best of luck with it. Lots of soft food for about two weeks. No crisps or crunchy stuff. Also make sure that you get some antibiotics as a precautionary measure against post op infection. The mouth is prone to them. Stockpile the Calpol and Nurofen as it will be uncomfortable for a few days. Let me know how it goes.
Haven't been much on because i had no internet * switching providers isn't always as easy as they say!*
Well just been for his pre-op assessment and spoke to the surgeon. Bite block (not sure what this is) wasn't discussed, so i guess it's a straightforward op. Sleep apnoea problems were mentioned. As the possibility of further surgery if this one doesn't fix the problem as it should. Surgeon said his speech will be much clearer with noticeable improvements especially after a couple of months but not to have too high expectations either.
Sallybear, it's happening next week at the Spires cleft centre in Salisbury. fingers' crossed.
Hi genie, my DS2 has 22q11 deletion syndrome. He also doesn't have any heart defect, although he does have a lot of the other medical difficulties. His speech was dreadful and was/ is at the severe end of the spectrum. I will say that having had two ops on his palate now the improvements are huge .
We got his diagnosis when he was four ( he's 9 now) and were incredibly shocked that anything had shown up. We had to wait a couple of weeks for the results, I believe they used the FISH test.
As you say getting a diagnosis doesn't change who he is, but it is gut wrenching all the same.
My DD has had huge problems with VPI, her cleft has been repaired twice and then another surgery called a Buccinator Flap to lengthen it further. The facial grimaces could also be down to him trying to control the air escape from his nose too while he is speaking.
Genetics is a minefield. We have a clinical dx of Treacher Collins Syndrome because she ticks some of the boxes for TCS but not all. She has had bloods done several times but we've never had a definitive dx confirmed with bloodwork.
Anyway, where are you having the palate surgery done? Is he having a bite block fitted too? I had to remind them to get teeth impressions done in time for the bite block to be made. We had ours done at GOSH in 2010. It's not been that successful and has contributed massively to the return of her obstructive sleep apnoea.
Sorry, special kids in the UK - skinuk. Sometimes also referred to as skituk, or a variety on a theme... Anyway, great resource, v knowledgeable about disability, and regular sn kids meet ups and camps etc.
Thank you for all the replies. It's nice to be able to share on this board.
I have had a long look at a few websites, Max appeal being one of them. And i'm getting the idea that the symptoms can be very diverse.
I read that some people didn't even know they had it because it caused them very little problems and were dx with the 22q deletion only because their own child had it but presented more symptoms.
That said that explains why the docs still wanted to test even though DS doesn't seem to present in a more typical way, as you say also about your DS doobryferkin. It seems typical can vary widely anyway.
DS has no heart defect, well he never had problems in this area. It's really just the ASD, very mild epilepsy, some of the behaviours, some delays with language and learning,...and of course the palate defect.
I'll just have to sit and wait now... two months is a long time..... eeek! I don't do waiting very well!
Hi genie.This is my first post on MN so hope I've done it all right!gulp!Here goes...
My DS(9yo) was diagnosed with 22q11.2 deletion syndrome nearly 3 years ago.According to Geneticist he didn't exactly fit the mould of what would,typically,be present with this syndrome.We are SOOO "lucky" that he wasn't affected by any heart issues(which is one of the more prevalent anomalies).Instead,we have a host of other "issues" to contend with as a result of 22q.
They detected deletion with microarray which took about 8wks.
Since then it has been a constant battle "educating" professionals as to the effects of the syndrome-even though it is apparently the 2nd most common genetic syndrome,after Down Syndrome!
Anyway,I digress!Really just want to let you know of a website dedicated to 22q11.2ds in case you hadn't come across it on your Google Quest!It is
www.maxappeal.org.uk/ Hope this link works-apologies if not!They also have a closed FB support page which is really informative (but I would probably wait for results 1st before venturing there!).
Hope all goes well for you.
There are several syndromes linked with chromosome 22.
DD has Emanuel Syndrome which is 22q 11 trisomy. It is rare about 200 in the UK but how many are undiagnosed!
She like your son has palate problems had a cleft palate repaired but not successfully.
Although not on paper has ASD but has dysmorphic facial features very underweight, long, skinny and hypermobile. Also has immune problems.
But as you say he is your lovely son and no diagnosis will alter that.
Try Unique a rare syndrome support group (sorry can't do links too old)
a friends little boy has something going on with chromosome 22, nto sure exactly what but the genetisist said it has no name as it has only been detectable very recently and is v v rare.
That said v rare does not always mean the most severe.
He has ASD, epilepsy, learning difficulties and v slow growth.
He is also, lively, loving & physically very able & active
Skinuk? madwomanintheattic sorry what is it?
Head on over to skinuk. There were loads of kids with various 22q stuff going on if I remember correctly. Sme of them weren't dx until very late - mid teens.
I think my daughter was tested for this but it was over 10 years ago and I can't remember that well . The test did come back negative and we never persued any further genetic studies when we were invited back.
Fingers crossed, I do remember it was a long wait for the results.
I don't know.
From what i have read the 22q deletion is the most common, but sometimes there is no deletion but a duplication.
The geneticist wasn't giving me specific names, but she said if DS is found to have this chromosome disorder then he will need further testing to check for other things like calcium levels, kidney scan,...ect
I'm not even sure how they are testing for it. Whether it's FISH or array testing. She said we'd get the results in about 8 weeks.
Is there more than one syndrome associated with chromosome 22?
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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