Reasons that Raising Awareness of Fragile X Syndrome is Important?

• It is estimated that one child is born in Australia every week with Fragile X Syndrome and in that same week, 12 babies will be born who are carriers. One in 3800 males and 1 in 4000 females are affected by the condition.
• Although Fragile X has been found in all parts of the world it is thought that the majority are yet to be diagnosed. Around 30% of children with Fragile X have some degree of autism and between 2-6% of those diagnosed with autism have Fragile X Syndrome.
• Because of the prevalence of this genetic disorder it is vital that all are aware of its existence. Appropriate therapy and medical treatment may not be given to those without the correct diagnosis.
• Most people have heard of Down Syndrome and, even though Fragile X is is second only to Down Syndrome as the cause of mental impairment, Fragile X syndrome is not widely known.
• It is now thought that as many as 1 in 130 women and 1 in 800 males are carriers of Fragile X. A carrier mother has 50% chance of passing the mutation to her children, male and female. These children may be premutation carriers or be affected by Fragile X . All daughters of male carriers will be carriers themselves.

Apart from the implications for their children, carrier males and females may have their own distinct health issues.

• Female carriers may experience Primary Ovarian Insufficiency with involves early menopause, have a higher risk of osteoporosis, and clinical depression.
• Male carriers, especially those over 50, can suffer from a progressive neurological condition called FXTAS which can mistakenly be diagnosed as Alzheimer’s or Parkinson’s disease.

Our Association has been busy all year promoting awareness and education with conferences, talks, producing brochures and literature. For Awareness Day we have distributed yellow ribbons throughout Australia. Our members continue to work hard giving talks, newspaper and magazine interviews and fundraising. Most parents of children affected by Fragile X will have had to educate teachers, therapists, their families and even medical specialists.

Awareness Day Events

Australia

• New Fragile X Association of Australia brochure explaining Fragile X – “Fragile What?” Please feel free to download a copy.
• Our members are wearing their Fragile X T shirts (at least in the parts of Australia where it is warm enough for them to be seen!)
• Margaret is holding an awareness stall in Taree today, the 22nd July.
• Sharon in Mittagong is running a Bunnings BBQ on Saturday, the 25th July.
• The Victorian support group held an awareness stall at Southland Shopping Centre on Sunday 19th July.
• Awareness Day Ribbon Sales

USA

The National Institute for Health will be conducting a Congressional Briefing on National Fragile X Awareness Day in Washington today.
The briefing, held in conjunction with the Centers for Disease Control and Prevention (CDC) will be outlining a comprehensive plan shaping future research into Fragile X Syndrome and associated disorders.

The NFXF say that Fragile X Syndrome (FXS) research is moving closer to finding a cure with the recent National Institutes of Health approval of this plan which was created by a group of leading scientists, parents and advocates. Recommendations range from basic research to applied policy research. Objectives include studying educational and behavioral interventions, evaluating family support systems, identifying risk factors, and looking at molecular and biological systems. For more information please see the NFXF press release

The FRAXA Reseach Foundatioin is holding a Fragile X Awareness Day Photo Contest FRAXA.org. You can vote daily for your favorite photo until 15th September.

My.Fragile X Community Site is also running a Photo Contest and are asking for photos of those promoting Fragile X awarness in their communities. Here is a slideshow of the entries to date:

Please help us raise awareness

Helping raise awareness can be as simple as mentioning to a friend, work colleague or family member that today is Fragile X Awareness Day. If you want to refer them to details you can send them along to this site or to the Fragile X Organisation in your own country.

If you are a member of any social networking sites such as Twitter (#fxawareness) or Facebook please help publicize the day by linking to this post or to other Fragile X sites.