Sunday, July 22, 2012

I Am One.

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I am one.
One in 260.

One in 260 women are carriers of the Fragile X Premutation.  To put that a bit in perspective...the average Facebook user has 245 friends.   So, there is a very high chance someone you are friends with on Facebook is a Fragile X carrier.

But have you ever heard of it?  
Approximately one-million Americans carry the Fragile X mutation, including approximately 100,000 with Fragile X Syndrome and are at risk for developing a Fragile X-associated Disorder.

Could that one be you?
Approximately 1 in 260 females and 1 in 800 males are carriers of the Fragile X Premutation.  Many of those carriers go undiagnosed until they have a child, niece, or nephew with a full mutation.

Has one of your grandparents or parents been diagnosed with Parkinson's?
Studies report that approximately 1/3 (33%) of all men over 50 years of age and 5%-8% of women with the Fragile X premutation will develop symptoms of FXTAS. 

Do you or any of your female relatives have fertility issues?
Approximately 20-25% of women with an FMR1 premutation will develop FXPOI. FXPOI covers a range of ovarian difficulties including early menopause, irregular menstrual cycles, infertility, sub fertility and premature ovarian failure (cessation of menstrual periods prior to age 40)

Is there a prevalence of fibromyalsia or auto-immune disorders in your family?New research is showing the prevalence of Auto-Immune disorders such as hypothyroidism and fibromyalsia in Fragile X premutation carriers.

Have one or more people in your family been diagnosed with Autism?
Fragile X Syndrome is the most common known genetic (“single gene”) cause of autism.  Autism affects 1 in 88 children and around 2-6% of those affected have Fragile X as well.

Awareness is such an important thing with Fragile X because it isn't just something that affects you - it is genetic and passed from father to daughter, mother to child.  As it's name suggests - it travels on the X chromosome and may not develop into a full blown mutation for generations.  Today, July 22, is National Fragile X Awareness Day - a perfect day to share or learn more about Fragile X.

To learn more - visit the National Fragile X Foundation, FRAXA, or the CDC.


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