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.
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.