Soo.... someone mentioned we should consider having DS1 tested for it.
I'm wondering what does the process involve?
Is it something we need to know about right now or something we can look at later on?
He's already in therapies and has an aide at school, I don't think there's much else that can be done for us really lol.
Having a diagnosis can help therapists and teachers to work with the child's strengths and assist where there might be weaknesses. Fragile X diagnosis involves a genetic test, probably a blood test but sometimes they are done just by blood spots or saliva. If they found that your child had Fragile X, it might also have implications for other children in the family (siblings, cousins).
We already have a diagnosis of PDD-NOS and SPD (sensory issues). His paed has also labelled him 'hyperactive' - but not formally as he said he can't formally diagnose ADHD until he is in school. He also has a diagnosis of speech delay and language disorder. We have a specific plan for his needs already, so I'm not sure how anything else could really change that as we are already addressing his weaknesses now.
I guess that's what it comes down to, is it worth putting him through another specialist and more testing when we are still trying to get settled into Kindy? Is it something we need to know about right now or just something we should consider and look at once we are over the few hurdles we have now?
I guess I'm just thinking out loud trying to prioritise things, I'm just not sure how high on the list this would be for us?
That makes sense to me. At different times, i have hungered for answers and diagnoses and other times i just need a break. It is good to know that testing is there if you want to follow it up. There are fragile x support groups if you wanted to access information or peer (parental) support.
Not sure if you're aware but fragile x is listed in the 'better start' funding package released July 1st. Not sure how old your LO is, but a diagnosis would give you access to this funding....... 12k for use for early intervention therapies, up until their seventh birthday.
If you don't want to put your son through testing, then you could get tested yourself to check if you're a carrier. It's about $100-200 from memory. If you're not a carrier, your children wont be affected. If you are a carrier, then you can test your DH for carrier status or just test your DS. It's worth knowing if you're planning to have more children.
It might be better to talk to a paed or a genetic counsellor at a children's hospital. There may be ways to have the test done more cheaply. If you just test your DS and it's positive, then you are both carriers and have a 1 in 4 chance of passing it on.
Fragile X is carried on the X chromosome, so the calculations are a bit different to a condition carried on one of the autosomes (non-sex chromosomes e.g.X or Y).
Fragile X is also a bit different cos the chance of having the condition, and the severity of it, increases over generations. This is due the gene getting bigger when it is passed from mum to child in carrier families. When the gene gets beyond a certain size, symptoms of the condition occur. The gene can be passed on by dads but doesn't usually expand when being passed from dad to child.
However, Tashybabe is right in saying the mum could be tested to see if she was at risk of passing on a large gene. If her gene is normal size, then it won't expand to affected size in one generation and therefore fragile x would not be likely in the children.
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Fragile X Syndrome
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