22q deletion

[roughtyping]

Hello,

Is there anyone on here whose child has this conditon?

I feel like I must preface this by saying, we are aware of just how lucky we are that our some is so mildly affected in the grand scheme of things. We are thankful every day for this.

I am really struggling just now with HPs saying my son is 'fine' 'there are children much worse affected than him'. I absolutely understand this but I still feel he needs support. I'm also struggling with the fact that he behaves so differently at nursery to home - he's much more compliant there.

I don't know what I want from the thread really. Just a listening ear. Feel quite alone.

I don’t have any experience of 22q deletion but how does it manifest with him? What behaviours are you concerned about?

Hi @openupmyeagereyes thank you for replying.

My son has some speech problems - he can be difficult to understand. His actual language structure is poor too - recently I've been thinking he sounds like someone who's learned English as a second language if that makes sense, just the way he says his sentences.

The rest of his issues are related to his attention and behaviour. We've been having lots of anger and sadness in the house resulting in us being hit, shouted at etc. He's only 4 and I hate seeing him so distressed over the smallest things. Generally it's when he's asked to do something eg getting ready to head out.

He's also having more accidents (normally dry during the day) and going to the toilet is a panicked rushed thing for him just now.

I'm just feeling sad for him and I don't know what to do really.

He's supposed to have some developmental and social/cognitive functioning tests done due to his diagnosis but I feel like it's going to be a fight to make it happen. I'm struggling with HP not listening to what we're saying.

So, going back to basics, what have you tried already? Have you tried visuals with him and a now/next approach with visuals? How is his receptive language? It sounds like transitions are problematic for him.

It sounds like speech therapy would benefit him if you can get it. Has this been applied for through your hv? Do you have any books to help with techniques to use at home?

Health services are stretched so you just need to keep pushing them unfortunately.

Regarding the toileting, IMO (and that’s all it is) I would try not to push or make him anxious about it, just keep modelling what he should do and I’m sure it’s a phase that will pass.

Have you spoken to his nursery about applying for an EHCP before he starts school?

@openupmyeagereyes thank you so much for your thoughtful reply.

He's been under SALT previously. He was discharged as they believed he was going to have an operation for his VPI, however specialist SALT said this isn't necessary at the moment, and then lockdown happened. He's rereferred and on waiting list for a face to face appointment, which won't be happening any time soon unfortunately.

We give warnings when something is about to happen (eg 'in a couple of minutes we're going to stop playing and start getting dressed') but haven't used visuals. Do you know any websites where you can make your own? Or just make eg in word?

His language is improving but he needs things explained in very specific ways. Always needs his name said before you speak to him or he generally won't respond. Have to think of new ways to say the same thing if that makes sense, to help him understand. Finds it tricky to follow more complex (eg 3 plus step) instructions.

We use Makaton together which he enjoys. You know he really, really wants something or is really trying to be charming when he uses Makaton because he knows I like it when he does!

I am leaning towards what you're saying about toileting. I hope it is just a phase for him. He's still in nappies overnight, he doesn't like it bless him but no signs of readiness at all.

re EHCP we're in Scotland so things slightly different here. Waiting for his updated support plan at the moment and I've asked the depute to speak to educational psychologist about temporary placement at an enhanced learning resource nursery to possibly have more in depth assessment of his attention and learning ability.

Thank you for replying. I don't even really want any solutions I suppose, I know the health system is always grindingly slow never mind now, I just needed somewhere to speak about it all.

It’s really tough when you have concerns and nothing’s moving. COVID really shouldn’t put a halt on all these departments offering anything at all

There is a website often recommended where you can make visuals but I can’t remember what it’s called, I’ll repost if I can but there are lots I think. I have used ones from Twinkl and also bought them on Amazon - visual calendars and morning/evening routine strips. You can also use your own photos.

Another thing that’s worth doing is Googling your LA’s ‘Local offer’ page (if it applies in Scotland). It shows what support you can expect and often links to local charities where you can get advice and support. There are also national charities like Contact and Sunshine Support which has lots of online webinars.

@roughtyping Just came across your post doing a search for 22q. I'm in Ireland and have a 4yo girl with 22q deletion. How's things going? I feel you with the toilet training! It's tough going!
Anyway just really wanted to say hi and hopefully some of the supports are becoming available now for you. We had some zoom speech and language sessions which are definitely hard for keeping attention but good for information on what to work on.
Feel free to ask me anything btw! Take care.

[quote Wayword]@roughtyping Just came across your post doing a search for 22q. I'm in Ireland and have a 4yo girl with 22q deletion. How's things going? I feel you with the toilet training! It's tough going!
Anyway just really wanted to say hi and hopefully some of the supports are becoming available now for you. We had some zoom speech and language sessions which are definitely hard for keeping attention but good for information on what to work on.
Feel free to ask me anything btw! Take care.[/quote]
Hi @Wayword we're doing ok. I feel much better about it all, although I go through periods of feeling very frustrated. Still having some toilet issues but have accepted that's just how it is for him! How are you getting on? Is your child recently diagnosed?

Sorry only just read this, DD 16 has 22q11 translocation, she has severe learning disabilities and complex health needs. I don't know how similar she is to your son. As for toilet training impossible as she has a colostomy. She also has a compromised immune system and requires weekly infusions X2.
Good luck and take care.

Hi @roughtyping,
That's great that you're feeling much better. All is really well here thanks, my DD is doing great. I got a diagnosis shortly after birth because she had a heart condition and needed full repair. She's unbelievably strong and funny and clever and honestly just blows my mind. I suppose our only "struggles" at the moment are working on diction and on clinginess but these are who she is so it doesn't feel like issues as such.

One thing I've noticed my DD LOVES is charts and ticking things off... so bedtime routine eg. Couldn't get her to get into pjs or do teeth happily but when it's written on a laminated page and she can "tick" them off she does it no problem!

Does your DS have siblings? I've a 6yo DS.

Have you tried boardmaker for visuals for a schedule, I think this is what salt use . You could do an image search or it looks like this offers a free 90 day trial. Have you heard of unique
it's a group for families with undiagnosed or I think rare genetic conditions, you might get some useful advice there. goboardmaker.com/blogs/news/creating-a-visual-schedule

Hi my DD (5) has 22q. She has it "mildly" compared to a lot of people with it, but it does affect her daily and life can be very difficult! How old is your little one?

Hi @Wayword , my DS has an older brother without 22q. My boy also likes to have a plan to follow!

@coffeepleeease my son is 5 as well. He's just started school. It's a weird situation as I feel very lucky that he has it so 'mildly' but equally people are so quick to write off his difficulties.