genetesist think she knows what it is!!!!!!!!!

[butty]

Well, sorry i aint got back to you all sooner, my broadband has been buggered all week, so i am hijacking my mums pc for a while

Anyway, here goes, we went in to the clinic and had to go through family tree etc..

she asked a lot of questions regarding dylan's capabilities etc.. took some photo's checked and measured him from head to toe, ran some blue light over him and sat me down to tell me that she is 95% sure that dylan has deletion 22QAA1, which basically is the end part of the chromosome.

She explained that it causes floppiness of the body and also severe learning difficulties and speech problems, if any speech at all.

She thinks that after seeing a fair few children with it, that dylan definately fits the criteria, although she has told me that he will require special schooling and support all his life due to the learning and mental aspect of things. the main thing is that children with this deletion have a very superior understanding, but cant get it across Also, she thinks that dylan should be able to walk to some extent independtly, but it may take a very long time.

So really. i am pretty happy knowing what it more than likely is causing dylan to have his disabilities, but on the other hand, it hit home pretty hard about probably always needing support.

Anyway, nothing is set in stone until the fish test results come through, but i may be nearing an end.

if any one knows of this deletion, it would be appreciated if you could share your experiences with me.

And a quick message to philly, to let you know that i am thinking of you and that i have read your thread, hope all goes well.

Butty.xxx

I was thinking of you on Friday Butty - so glad you've got a tentative diagnosis.

Have you tried www.rarechromo.org - this is the website of Unique - it's run by parents of children with rare chromosome abnormalities and they tend to have a lot of information on rare syndrome (often they have a booklet available)

I have to say that I have not heard of '22qAA1' - the microdeletion of the end of chromosome 22 is generally known as 22qter or 22q13.3 or even less commonly SHANK3 deletion.
Be aware there is a different, more common, abnormality of chromosome 22 which involves a region high up on the chromsome (ie. not the end) which is called 22q11 deletion.

If she def. meant 22qter then there is info on here.

www.genetests.org/profiles/22q13.3 (bit scientific but comprehensive)

Best wishes. BB

I've just checked the Unique website, they do have a 22q13 deletion booklet - you need to register with them to download a copy...I've seen some of their booklets (on other syndromes) and they are very good, written in collaboration with specialists but easy to understand.

Butty feel for you and that you are finally getting somewhere knowing Dylans dx.

Sending you cyber hugs

Jenk
xx

thanks for your messages bluebear and jenk.

i will have a look on google for the definitions bluebear, i more than likely got the numbers a bit wrong as so much to take in one session.

Butty.xxx

Hi blue bear, just to let you know that i have checked over my notes from the appointment and the 2 that they are checking are 22q13, of which is the more likely and 22q11, although she feels it is more than likely not as dylan does not appear to have any heart defects.

Thanks for your link, i will be looking over it later as my pc still down, so yet again round at my mothrs hogging hers.

take care for now.

Butty.xxx

Hi Butty - They do both at the same time as the same FISH test detects both (one is used as the control for the other) - but your ds does sound very much like a del 22q13 and not like a 22q11 (although there variability in the 22q11 features and severity).
Most places are taking at least a month for this sort of testing at the moment :( so I hope you get your result soon.
Best Wishes.

BB

Oh and www.genetests.org site has a page on 22q11 deletions as well.

Thanks for your messages bluebear,

me and my mum have just been looking at a few sites and dylan definately meets the criteria for 22q13, anyway, thanks again for your info, just hoping that the results come in fairly soon so that we can move on and concentrate on the future and what is best for dylan from then on.

Butty.xxx

dylan sounds very similar to my daughter! I am glad you have a 'name' to put to things, hope this helps you:)

Hi pinkerplink,

Thanks for your message. How old is your dd???

Do you have a dx for her.???

Butty.xxx

Hi everyone,

just to let you know that i got a letter from the genetesist this morning going through the grounds covered in the appointment and also mentioning a few things that were picked up.

One thing i didn't realise is that dylan has some creases to his eyes and palms of ewhich i never really noticed that much.

On the upside, they have dylans blood still from the tests he had done in november, so we should get and answer within the next month, which will be one worry off my mind.

I was a bit shocked to see it on paper that dylan has been classed as severe learning difficulties and GDD rather than moderate to severe, and the other thing mentioned that only 50% of children who have the fish tests are never given a cincise dx as they just can't find anything, she also mentioned that no cure or medication for what they suspect although mention of support groups was good.

Anyway, i shall keep you all updated as i find out more, thanks for all your support over the past year since me joining MN, it has benn of most value to me and my family.

Butty.xxx

oh yes the change from moderate to severe. I remember that being a shock (we went from officially: nothing wrong to mild to moderate to severe. ah well at least we can;t go any further!)

Hope you don't have to wait too long for the test results......

good luck butty, dd has deep hand creases too or as doc calls them palpable fissures. Damn docs!
I hope you get closer to a full and honest and accurate diagnosis so that you can best support Dylan in the future.
Hugs xx

Thanks for your messages.

All i can do for now is wait and see, and if they don't find the cause, then we'll just carry on as we are now, although a dx i feel would be better for ongoing support groups and his future as i dont know what is in store for him, although i know for definate that he will need support all his life which is probably the hardest thing i feel for dylan and as a family unit we all have to face.

I had real major thoughts plauging my head last night about if's and but's, what if, why, how hard is life going to be, whats in store for dylan growing up, will he ever talk and the list just goes on.

I think i am beginning to except the extent of dylans problems and how i cope with it, i dont know.

I sometimes wish things could be normal, but then i question what is normal these days. I don't want to sound selfish, i just want my son to have the best in life, and although there are problems we will face together, i hope i can provide and maintain his happiness.

Sorry to rant, just having a moment of realisation.

Butty.xxx