DS4 to see paed neurologist this week, anyone know what to expect?

[MegaLegs]

Hoping he might have an idea about the causes of DS4's GDD and hypotonia. Have no idea what he'll want to do. Think they will try another blood test, he has tricky veins my DS and it's hard to get blood.

Dreading it as DS freaks at anything medical now, even a stethoscope.

DH is coming with me thank goodness.

No genetic counselling but we were told we might be referred for this if anything came up in the bloodtests. What exactly is Genetic counselling? We aren't having any more children but is it to discover if there is something DH,my other 3 DSs and I might be carriers of?

Also what is a FISH test? I should get googling shouldn't I.

Is a child sedated for an MRI scan?

Sorry questions, questions. Can you tell I'm flapping!!

Good luck with the appointment, MegaLegs.

dd1 had an MRI and she had to have a general anaesthetic as they have to stay still

Thanks Dino - I approach it with a mixture af dread and excitment - we might be getting closer to a few answers - but then again, like FioFio's dd, he might just be another child with an unexplained condition.

That's what I wondered Capp. DS4 was due to have a GA in the summer for a hypospadius repair but the aneathetist (sp?) wasn't happy for him to have it until they'd discovered more about his hypotonia.

Also, is it worth taking a copy of the the notes I've just received which cover the week I was in hospital with complications before he was born. It shows a lot of info about his high heart rate whenever I was monitored.

you could take them ML

but tbh whenever we asked about issues before birth affecting anything it wasn't seen as relevant; think it was just something that we were using to try and make sense of it all

I know what you mean Capp - I really am clutching at straws - but I'm in that 'desperate for some answers' zone.

I think it's difficult not to get answers

dd is 6 now - I don't know what caused her brain to develop in the way it did, it could have been anything - maybe the blood flow through the placenta went a bit slow one day

there are no answers and we just have to deal with how it is now. it was hard and still is, and sometimes me and dh still wonder 'was it that day when we did that'; I was scared to read anything about what to do/ what not to do during my second pregnancy in case I heard of something that I'd done that might have caused it

but sometimes there just are no answers and you just have to get on with diagnosing and helping your child. Our diagnosis was purely to help with making a decision about having another child; as everyone said, it made no difference to the therapy that she was having or the expectations for her, that was all dependent on how she was doing rather than what the word was written down in the file

sorry - this is so hard, you just have to look forward rather than back. This is a hard time and I send my prayers to help you with it

My DD has a MRI scan under sedation. She was about 15 months at the time and would not stay still so had to be aneasthetised. The MRI scan diagnosed possible synosostis but on further examination (referall to GOSH), this was ruled out. We then went the genetics route and finally received a diagnosis of Sotos Syndrome (global developmental delay and overgrowth).

Before the genetic diagnosis, the geneticist asked lots of questions about our families, histories, other children in the family (not just our children, but nieces, nephews, etc.). Took some blood from me and ex-h but luckily they still had some of my DD's blood from previous testing.

The geneticist we saw thought she knew what it was and called in two other geneticists who happened to be working the same day who were specialists in Sotos. Just by looking at my DD and hearing her history, they visually diagnosed her. This was later confirmed by the blood testing.

The FISH test is a test carried out on certain chromosones that can pick up certain disorders - in Sotos Syndrome this is chromosone NSD1.

Neither me or my ex-h are carriers, our DD was just a one-off mutation that occured. She has a 50% chance of passing on the syndrome as she has tested positive but this will depend on the child's father. If he does not have sotos syndrome, the possibility is 50% but the doctors have said that my DD can have genetic counselling at the time, if she so desires, regarding passing this on. Even if her child's father does have Sotos syndrome, if the child receives one part of the chromosone from my DD's good side and receives the other part of the chromosone from the child's father's good side, then the child will not have Sotos. If the child picks up one bad side then that child will have Sotos syndrome. Obviously if the child's father does have Sotos syndrome, the possibility of passing on the defective gene is that much higher.

(Seems strange talking about my DD's possible children, she may never be in a situation to have children, she may not want children, she may not be independent enough to have children - just have to wait and see - but I like to think she will grow up to have a 'normal' life (whatever 'normal' is).

Thanks for all the info, and the prayers and good wishes, they are much needed. I can go along on Thursday with a little less trepidation now I know a little more about what might go on.

Saw the consultant's reg, who was lovely. DS was on top form, bless him, he seems less freaked out in medical environments these days.

No real answers of course but they are pretty sure that DS's problems are not muscular, this means he will be able to have a GA and an MRI scan -oh sh#t!!

I guessed this would be the outcome and it's a step towards finding a dx but it's a 4 month wait and I'll worry myself silly. ( Have reassured myself looking at some past threads on here though)

FioFio - I know!!

Atleast when he's under the GA he can have all his bloods done too (he has terrible veins and is a notorious wriggler, only had one successful blood test ever). DH asked if they'd also cut his nails and comb out his bedhead!