22q deletion

[emeraldislegirl]

Any one got any experience of this?

DS3 was confirmed with this yesterday at 4.5 years. It was considered a possibility because of his speech delay, hypernasality and his appearence. They now have to look at his heart, kidneys and they have taken blood for calcium and other things which I forget now.

I'm a bit shell shocked really.

Welcome to the board Emerald
I have no experience but am bumping up your post in the hope that someone can help. Either way it is a big shock when your child is diagnosed as being "different". Hopefully you can find lots of support on here: even if the kids don't all have the same diagnosis we all have experience of dealing with SN-world.

you may find this 22q Deletion Syndromes research paper collection useful

Hello, ds is awaiting further chromosomal tests, he is 18 months with gdd, no speech, low tone, mild dysmorphic features and severe reflux with problems swallowing. One of the syndromes mentioned has been 22q13.

I hope you find support and advice here, these boards have been hugely helpful to me since having ds, and I have found some good friends here.

Hi emerald, my ds2 has this and was diagnosed at 4 too.

I will pop back tomorrow and give the full run down on him as am in a rush at the mo.

Feel free to pm me if you want.

Hi emerald,
the first months after the diagnosis were an extremely difficult time for me.
When people said "it will get better" I didn't believe them. Thing is, we parents have to grief for the "normally developing child" we can expect no further and that's fine. You loose one, but you also find the very special and unique child next to you.
Information is good, but their tend to be spectra of each condition and you won't really know how your child will develop for a while and the prognoses given might not hold. This is really the case for any child, but more so for a child with SN. There also will a time of many doctors appointments and it can be a bit breathless - take your time and one step at a time! There is a support group for rare chromosome disorder, Unique, which is fab. All the best to you.

There are two leaflets on 22q deletion:
www.rarechromo.org/forum/DisordersLeaflets.asp
I highly recommend Unique - they have bee extremely helpful to me.

Hello again emerald!

DS2 was diagnosed with 22q four years ago when he was just four years old. He also had very delayed speech, feeding problems, hyper mobility, very poor immune system with frequent ear and chest infections, hearing loss, leg & foot cramps & dysmorphic features to name but a few! He also had to have heart and kidney scans. These were actually all fine, and it is important to remember that they are very unlikely to find anything drastically wrong if he has got to 4. The heart conditions that generally go along with this syndrome usually show themselves when the baby is just days old, so please try not to worry too much.

His immune system will now be fully checked, does he get a lot of infections? DS2 now takes anti bioethics on a daily basis to keep serious infections at bay.

With regard to his speech, has he been referred to a cleft specialist? He should be checked for a hidden cleft, particularly if his speech is significantly delayed. When we discovered ds2 had this it all made perfect sense, right down to his party trick of what he was drinking through a straw would come out of his nose . He has had it repaired a couple of times and I am astounded at the progression he's made.

There is loads I could tell you, but you are probably in shock and just reeling from recieving a 'forever' diagnosis but feel free to ask anything.

My little boy is doing just great, and whilst I could still cry until I did actually break in two, those times are few and far between as he is quite simply fabulous!

The 'max appeal' is the official site for 22q or di- George syndrome and it is a hive of information, so take a look there.

Hope you are having a good weekend.

Thanks for the replies. I think I wanted to know that there are others out there in the same boat. I have had a look at some of the other sites and I they look interesting.

I am shell shocked but not too upset. He did see a cleft specialist who was the one who suggested it could be a 22q deletion. He wrote the name down on a piece of paper and said now don't go home and google it - which of course I did and quite a few things seemed familiar. So it wasn't a great surprise when we were told

I am glad in a way because it explains things. DS couldn't breastfeed and so I expressed for him. My GP listened when I told her and arranged an appointment with a paediatrician. He wasn't interested as DS was gaining weight and able to drink from a bottle(very very slowly). But I knew something wasn't right.

He also has nasal regurgitation when drinking through a straw. His older brothers think it is gross when he drinks hot chocolate.

However he doesn't have a hidden cleft palate but velo-pharyngeal insufficiency. I think he will have surgery in the future. His immune system seems ok and we will see what the other tests show once he gets seen.

I think I am less upset as he has made a leap in his speech since Christmas. His vocabulary has extended and the sentences are longer even though he is difficult to understand as he misses most initial letters. I am hoping that will get better with time.

The worst is not knowing what the future holds - but I suppose no one really knows special needs or not. I was speaking to a mum with a newborn recently who lost her first child at 4 to leukemia. That puts things into perspctive.

I'll be back with some questions.

Hi, we were also in a bizarre way relieved to get a diagnosis - he spent alot of time in hospital as a baby and was tested for many life limiting conditions as the medics also knew something wasn't quite right with him. When the diagnosis finally arrived it was a big relief considering what we had thought we could be facing.

DS2 also has VPI and alongside his hearing loss his speech was unintelligible. So much so that he now goes to a speech & language unit and uses a communication aid. His progress though has shocked me since his second surgery and he is now able to make more sounds. His vocabulary and sentence structure have been good but with no intelligible sounds he made no sense!

For us getting the diagnosis has made things happen more easily. Getting his statement for school, much more frequent speech therapy, physio etc is less of a battle. I know it shouldn't be this way but life definitely got easier with a diagnosis.

As for the future - I think we all wish for a crystal ball!

I'm sorry for any spelling errors - am on phone.

Our DD was also diagnosed at 4, she is now 12. She, like your son and slightly crumpled's son had VPI along with various other things - like glue ear and dodgy teeth and frequent infections. Her heart, kidneys, immune systme etc were all rested and declared normal. Now she is as robust as they come, doing well at school and talking just like everyone else - four years ago no one except her family could understand anything she said, but after two pharyngoplastys and eight years of speech therapy she has been discharged by the SALT!
She is in mainstream education and is at slightly below avergae levels for her age. She now knows she as 22Q1.1 deletion.

I still sometimes worry about the future, but things are much, much better than I feared they would be when she was diagnosed. I think the unknown is so difficult to deal with that it petrifies you to think what the future may hold, but in the end the future just happens and you get on with dealing with what it brings.

Quick hi-jack for Slightly - I remember some years ago you were wondering whether to go ahead with surgery for your son and I shared DD's experience with you then (under a different name). I am glad that you have seen good results!

Hi, I remember!!! We have seen fab results, especially since his second operation, it is amazing. His second one was just last summer and for the first time I am hopeful he will be able to be understood in the future.

Amazing news that your DD has been discharged from SALT. How delighted you must be. It's great to hear how other children are doing. The problem with google etc is that you only really read the worst case scenario. If I'm having an off day I think about the fully functioning adults that don't even know they have it!

I do remember your kindness (must be four years ago now and well..thank you.

I'm pleased that I was helpful then and I hope we can be helpful to Emerald now - it is good to hear the positive stories- as you say google does tend to be negative!
DD's best speech moment so far was successfully audtioning for a part in a school performance which was performed in a public theatre in front of a paying audience and every word she spoke (although there weren't many) was as clear as a bell. Proud and relieved don't even begin to cover it.

I am so happy to hear that your son is improving - as I say DD spent years in speech therapy but when it all began to go right her progress was amazingly rapid.