How Autism & Fragile X Are Related

Ok – totally tired today & stealing content from The National Fragile X Foundation.

Did you know?

FACT: For between 2% and 6% of all children diagnosed with autism, the cause is the Fragile X gene mutation.
FACT: Approximately one-third of all children diagnosed with fragile X syndrome also have some degree of autism.
FACT: Fragile X syndrome is the most common known single gene cause of autism.

The point? If you are even breathing the word “Autism” around your child, get him or her tested for Fragile X. Particularly if you in Canada. Why???

It took us more than 6 months to see a child development specialist doctor, who refused to diagnose Nathan with anything. It took a further 18 months to see her again. At this point, she again refused to diagnose, just called it a “global delay”. Suggested genetic testing. Took 6 months to see a Geneticist. Took 6 months, less 6 days to get the results.

And if you haven’t been counting, we asked for a referral to the doctor when Nathan was 2, sometime in 2005, saw her in May 2006, again in September 2007. Appointment with Genetics in Feb 2008, results in August 2008. That is more than 3 full years folks, to get a diagnosis of Autism in June 2008 & a negative genetics test in August 2008. That is a long time of banging your head against the wall.

Yes, our FX test was negative but I am still glad we did the test. There is promising research being done right now for a cure for Fragile X. Wouldn’t you want to know if there was a possiblity of a cure for your child? Want to help find that cure? Donate here.


3 thoughts on “How Autism & Fragile X Are Related

  1. Seems like an absurd amount of time spent getting diagnosed which could have been used for earlier intervention and help (for son and mom). I’ve heard of similar situations in other countries that have nationalized health care, and it kind of scares me that they’re heading this way in the States. J/W–if I happen to get around to writing a post about this issue, would you mind if I referred to this post, just as an example? If not, no prob. I can write it without any specific examples.

  2. No problem, please link away. Most of the time, we don’t wait that long. Because my son’s autism is “high functioning”, no doctor wanted to commit to a diagnosis. However, I do know that a private lab in the US would have sent us results in 4-8 weeks for a few hundred dollars. We’re already breaking the bank doing all the other interventions that are not covered. Don’t get me wrong, I wouldn’t trade our system for yours, but it is more of a social justice issue for me. In Canada, the ideal is we all get the same level of health care without regards to income.

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