Testing chromosones, experiences?

[Frannyboo90]

Hi, to cut a long story short my little boy age 7 was referred by school 2 years ago to occupational therapy at hospital whom advised us he has dyspraxia, sensory processing disorder and Hypermobility. He finally saw a pediatrician last Friday (local waiting lists are horrendous) to confirm and she said she will work towards confirming them but would also like to do some tests on his chromosones, now as a beauty therapist this was way above my brain so I stupidly googled and now I've frightened myself silly so just wondering if anyone has had any experiences with this, Thankyou for reading xx

they basically want to see if there is an underlying genetic cause for his difficulties.

we have a gentetic diagnosis too. we just know what caused Dd's autism and related issues.

it only may have implications if they find a genetic cause which has been passed on by your or his dad (they tend to test parents if a genetic issue is identified in the child) and your are planning further children.

not sure what you read on Google that worried you so much. there isn't really any need for that

As far as your dc is concerned it is a blood test. Take an iPad or similar to distract him with and he may barely notice. The doctors may also suggest an MRI scan which also sounded scary to me. Genetic screening and MRI are both tests that can pick up a very broad range of issues with minimal 'cost' to your dc - they don't hurt (or only a little for blood tests) and have no side effects. However, they are also unlikely to pick up anything as in most cases there is no identified cause for symptoms like your ds and your ds doesn't change who he is because of a test.

Ask for the numbing gel - that helps with the blood test.

My boys have a underlying genetic condition. There's two ways to look at this

1. it means not much or close to nothing. Every cell in your body ( well except red blood cells) has DNA - another term describing genes and chromosomes. If something was passed on from a parent or went wrong very early in the baby's development every cell has the same DNA. So if there is a duplication or deletion it's in every cell in your body. So it's knowledge but nothing can change it.
2. knowledge is power. It explains a bit more. It might be a missing puzzle piece as to 'why?'. It is something you could use for your child if they have kids or you have further kids.

I have a biology degree. I studied genetics ( I'm no expect it was just part of my degree). But for me it has raised as many questions as answers. I think I'm glad I know. I have toyed with saving up for my eldest to have PDG IVF - but here comes the tricky part - what does that say? I would have screened him out if I had known? Would I? Do I want him to go through what I have gone through watching him struggle, raising his brother? The answer is I wouldn't have screened them out. But if I had a fith child would I use that knowledge?. They are all things I can't really give head space too

So it depends how you look at it. But ask for genetic counselling before the test. I had it afterwards. By then I could undo what I now know. There was a time I wish I hadn't known.

Also if it's passed on from a parent you might be suprised what emotions that throws up. Sorry I'm just being honest. I wouldn't go back now but I was suprised at the emotions I felt

Thankyou for the replies. One thing I read on google which worried me is that they check for duchennes muscular dystrophy, they are also sending him for ENT tests which kind of ties in with checking for that. But I completely agree that it's better to know if there is a genetic cause for his difficulties. Myself and his father split up during my pregnancy, although we are still friends and he sees him, we've both gone on to get married (or I will be in October) and have other children, will those children be affected or do both parents have to have the same faulty gene? I'm guessing it depends what if any, and who it came from x

My son had genetic testing and does have DMD. He shares symptoms with your son, however he also had other signs. At 5 he had very large calf muscles, couldn't jump, couldn't pedal a bike and got up from the floor using what's called a 'gower's manoeuvre', basically walking his hands up his legs to straighten up to standing. 7 would also be quite late for a diagnosis.

In DMD, boys can get the faulty gene from their mum (as in DS case, im a carrier but didnt know until he was diagnosed) but you can also have spontaneous mutations which means it starts with the child, but like you say, different conditions have different genetic causes.

duchennes muscular dystrophy is a very specific test and you DS's symptoms don't tie in with that either.

ENT is pretty standard if there are speech and language issue as sometimes hearing difficulties can impact on speech development (my DD had 'glue ear' and needed grommets).

Often, there is no faulty gene from the parent and the chromo issue only occurred in the child, I.e. not inherited. it's called de-novo.

I would really wait for the results first (can take months or even over a year). most cases don't throw up anything anyways. I think you are getting a bit ahead with your worries 😉

Thanks guys. I am prone to worrying, but I know that's quite normal as a special needs parent :) niklepic - he can't ride a bike or jump but I don't think he does that manoeuvre when getting up, not that I've noticed anyway, although I don't tend to look for it if that makes sense x

Coffeemachine how do you know what my sons symptoms are? I haven't mentioned them in the post

Franny you mentioned dyspraxia, spd and hypermobility. I think coffee means by 7 years old there would be other worrying symptoms to DMD so you probably wouldn't have been given the dyspraxia, spd and hypermobility diagnoses instead. My ds has dyspraxia, is 7 and they were considering muscular dystrophy for him - not DMD but there are several hundred other types many of which have no impact on life expectancy. They have ruled these out for now based on his pattern of fatigue and muscle strength - he can't jump, hop or peddle a bike either. His genetics looked for, amongst other things, fragile X. They also looked at his microarray which is a detailed look for tiny little duplications or deletions in his DNA - this is pretty new with thousands of potential tiny little differences which may have impacts that are not really understood and there may only be a couple of other people with identical changes in their DNA to compare with.

Thankyou blueberry, that's really helpful. He hasn't been diagnosed yet just suggested by the ot that's what she thinks and referred to pedatrician for actual diagnosis x

*blaeberry sorry autocorrect xx

My boys have a unique duplication. No one else outside our family's has it. There's name for it. We only know it's linked to their conditions as its on a known gene.

In the old days they would stain the entire chromosome and lay them over 'normal' ones to see if their bigger or smaller. Now days they are died and scanned by computers so they they can pick up tiny things which possibly mean nothing. Fragile x is always tested for as it ( relatively ) common.

In answer to your question my boys have only inherited from their dad. I'm fine. So is dad actually and completely symptom free

Thankyou so much 2boysnamedR o really appriciate your help xx

Hiya my son has asd about 6 months ago before his actually disgnosis he was sent for a genetic blood test. I recieved a letter saying they we will get an appoinment letter through soon to see the pedeotricion to discuss his genetic tests results, I'm worrying now as they must have picked up on something if there asking me to come in? Also my son doesn't see his biological dad never has and I don't know anything medically about him.

Hope all is ok candypops14, let us know how it goes xx

Thank you, was thinking about phoning gp on Monday as they may have results to? Has your little one had the blood test? X

No not yet, he saw the pedatrician fri the 24th and she said she's send appointments out, nothing yet, going to ring Monday I think. The waiting lists round here are terrible xx