fragile x

[LKU]

Hi all, as my son is going to be tested for this I have looked it up and it seems to me that most likely you would be quite severely mentally handicapped to have it.

I realise that this is quite a routine test and is there to rule out a definite cause of autism, my question is this, why would they do this on my son when he clearly has no learning difficulties and is very bright? Any thoughts on this anyone?

[Brook]

Hi LKU, our paed that dx our son, routinely does these tests on children she dxs ASD,

maybe yours does too?

 

Brook

[Amanda32]

Hi LKU

My son as had the tests done fragile X and chromosome testing but all was normal as brook said it's possible just routine.

Take care

Amanda

[Mother in Need]

My son has just been diagnosed with AS and the psychiatrist said he wanted to do a routine test for fragile X. I did not check this out (as I should have done) but consented to this. However, bloodtests are a nightmare he absolutely hates them and it is going to be a real trauma for anyone in the immediate vicinity, let alone him ofcourse. So now after what you say, my son also has no learning disabilities and is very bright, maybe I shoudl refuse to do this in the first place?

[LKU]

Hi mother in need, please don't let me influence your decision. I too have consented to the test. My thinking was, why would they even consider testing for this when as far as I can see there is usually a degree of learning disability?

Maybe there is a percentage of people with fragile x that are within normal iq.

Everything I read on the subject (which wasn't a lot) suggested quite severe disability though. I'm definitely not an expert in these things far from it.

I hope your child is ok when the blood is taken, my boy won't be happy about it either. At least we'll be able to rule it out as a cause and probably help with research at the same time. <'>

[blue]

Hi LKU!

 

Just a quickie....learned about fragile X at uni and this is a genetic disease and the symptoms are numerous and varied. It's due to extra DNA being added to the gene FMR1...depending on how much extra dna there is.......depends on whether that gene can transcribe.

 

Some symptoms are physical others are developmental. (can include speech delay...fine and gross motor delay and co-ordination difficulties.) There can be behavoural difficulties like shyness.

 

But the up shot of it is...........there are varying degrees to which it can have an effect. Symptoms can differ between individuals depending on which cells can transcribe.......so you can have fragile x without being severly disabled! <'>

 

Hope this helps you!

 

Lisa

[LKU]

Thanks Blue. Glad you've cleared that up for me.

 

What can I worry about now, hmmm............

[Mother in Need]

Thanks Blue, that info is useful. Looks like I have to go ahead and somehow have this done. We spent 2 hours at the surgery on Friday, trying to convince him to get that blood test done but to no avail ...surgery says we'll have to have it done via the hospital instead......... but what difference will it make if he is too scared to have it done, how are they going to do this? Anyone had experience with convincing a child to have a blood test done? Ironically, I give him 2 injections a day and several small bloodtests (but they are only fingerpricks); after 6 1/2 years of this and at age 12 he still won't have a normal test done...