The Most Common Disability You've Never Heard Of...

Well... Today is Fragile X Awareness Day, so I thought I would share with you the top ten things that you should know. (Please keep in mind that I got this list from Mary Beth and Sally from the Michigan LINKS group, and I've changed a little of it to make it more "Canadian". If you would prefer to read the original, let me know, and I can share the information with you.)

The Top Ten Things You Should Know About Fragile X Syndrome

It's genetic

If a woman is a carrier, she has a 50/50 chance of passing it on to any of her children. (1 in 100 - 200 women are carriers.)

If a man is a carrier he will pass it only to his daughter(s), and they will only be carriers. (1 in 800 men are carriers.)

Fragile X Syndrome (FXS) does NOT discriminate. It doesn't care which ethnic group you belong to.

FXS is a spectrum disorder. Symptoms may vary from mild learning disabilities (including shyness and social anxiety) to severe cognitive impairment (mental retardation).

Premature Ovarian Failure, more commonly known as early menopause, is a condition that affects 20-28% of the female FXS carrier population.

Fragile X-Associated Tremor/Ataxia Syndrome (FXTAS), discovered in 2001, is a neurological disorder that can involve tremors, balance irregularities, difficulty walking and dementia which is sadly often misdiagnosed as Parkinson's and/or Alzheimer’s. This condition is present in some older FXS carriers (typically after the age of fifty); usually in males, but FXTAS can affect female carriers as well.

There are many physical traits noted in many people with FXS, but not in all. These are traits which may also be present within the typical population; nothing unique which would necessarily indicate FXS testing is necessary for your child.

When testing for FXS, it is critical that the correct tests are ordered. The FMR1 DNA test is 99% accurate, and the test should typically take about two weeks for results. You can test for Fragile X Syndrome to obtain a diagnosis or to rule it out. If you don't have a correct diagnosis of FXS, then you will never be aware of improved treatments or the cure, when it's found.

Where to go for more information?
www.FragileX.org – The National Fragile X Foundation
www.FRAXA.org – FRAXA Research Foundation
www.LivingWithFragileX.com – Living With Fragile X