Questions about genetics appointment

[roughtyping]

Hello 👋 my son is 3y10m and has been going to speech therapy for approx a year. He was referred to specialist SLT as they suspected a hidden cleft, then sent for X-ray which showed palate was fine but a deep nasopharynx. Surgeon at X-ray said surgery likely but to go to geneticist first and continue with SLT.

SLT has since said there are problems with his processing/understanding which we suspected.

There are other things with DS which concern us but speech/language understanding has definitely been the most pronounced.

We have geneticist next month and we’re not really sure what to expect. I know they’d like us to take a family history of any medical conditions. Will they take blood from DS/us at the appointment? What are they likely to be looking for?

I always come away from appointments feeling overwhelmed with info then realise I should’ve asked loads of other questions!

TIA for any responses.

Bump!

Hi, I opened this because my daughter has a repaired cleft palate so I recognised the words. You might get more responses if you have a title something like ‘wondering about genetics appointment’ (just a thought).

I’ve been to quite a few genetics appts. Initially they looked at family history as you said, then they discussed what was going on with DD, had a good look at her and took some medical photos. They also asked about family plans to know if we needed support in thinking about another baby. I can’t remember blood being taken at the appointment, but each hospital may be different with that anyway. Initial testing was quite quick to come back that they hadn’t found anything. Over the years they have tested against new things but they have been able to use the original blood that they took years back (bonus). Nothing has ever been found for my DD even though they suspect there is a genetic issue. The appointments are fine though - they are really nice a supportive and not at all scary.

Hope that your appointment goes well and that you get some answers for your DS.

Chocl8 thanks so much for your helpful reply good idea about thread title, hadn't even thought of that.

How clever that they can still use the original blood! That's amazing.

I'm hoping to get some answers but I know that might not be the case. Thanks so much for talking me through it 👍

Just in case this is helpful to anyone else - my son had his appointment back in September. In January we got the news that he has a micro deletion of a chromosome, he has something called 22q11 deletion syndrome. It was really shocking at first and so worrying as the syndrome is extremely varied but we're slowly working our way through all of the appointments and are seeing that our boy is mildly affected. I'm finding the whole 'wait and see' thing extremely hard, as I think his difficulties may lie in his understanding as he gets older, but it's the nature of it all.

Anyway I just wanted to update as I had really not been sure what they were looking for - just in case it's helpful to anyone else.

Hi @roughtyping just wanted to know how things are going? I’m 27 weeks pregnant and the bub has the same diagnosis.

Glad you got diagnosed - seems so many kids don’t get a dx until much later.

Did you notice any other problems or has it just been speech and pallet issues?

Ps wait and see is what gets me too. I feel like I need a complete personality transplant to deal with 20 odd years of uncertainty!

@Wombleofwimbledon1984 hello 👋 I replied on your thread as well! I've known since the day he was born that there was something 'different' about our wee one but everything was just so vague with him.

He has asymmetric ears (one is small with over folded helix) and I was told when he was born the small ear was squashed from being in the womb. A lot of the things that concerned us at the time we now know are v typical of 22q but small enough that a GP wouldn't put it together without specific knowledge of the condition. Eg very quiet cry, very poor feeding and weight gain (couldn't breastfeed), he's always been a poor sleeper, he was slightly delayed in reaching development milestones etc. We've been very lucky that he's not had some of the more serious symptoms.

My gut feeling is that as he gets older he may be diagnosed with ADD and I think from what I've read and what I know of my boy he may find education difficult as he gets older, although he's a bright wee thing - he just doesn't quite have the right understanding of language. I also think he may have something not quite right with coordination or muscle tone but we're waiting to see the community paediatrician to discuss.

BUT all of those things, with the right support can be overcome. I have really struggled the last month or so but can finally start to see that it's just another part of our boy.

How have you found out your child has 22q (if you don't mind me asking - please don't reply if it makes you uncomfortable)? Was it through a scan or a blood test?

If you haven't already, please get in contact with Max Appeal through their website - they are an excellent charity and their private Facebook group is very supportive, too.

I thought your user name was familiar! Sorry 🤭

Are the hospital being helpful in pointing you in the right direction for speech therapy and anything else that might help with the behavioural stuff? I just started reading a good book about helping 22q kids to learn which is quite good. Though the chapters up front are a bit scary (though the studies are generally from the 90s and the sample size for each of them is about 10!)

Our bub has a double aortic arch which was diagnosed through ultrasound. In the grand scheme of things it’s pretty minor and fixable through key hole surgery. We had an amnio after that. It was all very stressful as the hospital kept delaying scans - we’ve since moved to kings who are much better.

We met Julie from max appeal actually - she is amazing. When we found out we followed her around great ormond street meeting kids with the same condition.

I’m feeling up and down - sometimes very positive, sometimes petrified about what our boy will be like when he’s an adult and whether he will be able to live independently etc. I guess once he is born we will just get on with it, but at the moment I have far too much time to scare myself on google...

Sorry this is a bit of a ramble!

@Wombleofwimbledon1984 please feel free to ramble! I've been trying hard to keep it all in myself so I know it's hard! It's tricky because most of my boy's issues could be explained away as 'being a wee boy' by people who don't see it all the way I do as his parent.

So - my boy had his 30 month check and didn't do well on the word part; I asked for him to be referred to SLT. Saw a great therapist who thought there was something physically not right; referred to specialist SLT who did a moving X-ray and saw the issue with his throat/palate; referred him to genetics. Genetics have not been the best to deal with, long waits and they have been quite dismissive of his diagnosis (I know he presents mildly but it's a huge thing to take in as a parent!). However they followed the Max Appeal consensus document and have referred him to lots of different departments to be checked.

Throughout this wait he has continued to see SLT who have also worked with his nursery. He has some 1-1 support at nursery and they do lots of attention/focus/joining in activities with him (he would quite happily sit playing with numbers on his own all day!).

I do feel positive about his future. He is an absolute little darling and the light of our lives. We will do anything he needs to support him. With support he goes to a mainstream nursery and outside of that takes part in football and gymnastics classes, and does all the 'normal' stuff like go swimming, soft play, to the park etc.

I think if I'd found out when I was pregnant I would have found it extremely difficult not knowing. It's hard enough not knowing about his future when he's here! I'm always here to listen if you need to get stuff off your chest.

Genetics have really played it down with us too actually. Maybe because they see kids with much more serious syndromes? I have no idea. Was torn between being reassured and slightly not listened to...

Your little fella sounds amazing- really heartening to hear. I’m sure it’s great for his development to just be in mainstream nursery too. I think we may have to park that for a while as they’ve seen a very small thymus so he probably has immunodeficiency problems.

Feel free to message me too. I hope all of the appointments etc you have coming up aren’t too stressful.