July 22 is National Fragile X Awareness Day.
Chances are that you’ve never heard of it, but Fragile X Syndrome is the most common cause of inherited intellectual disability affecting an estimated 1 in 4,000 males and 1 in 6,000-8,000 females.
It is not contagious or the result of a particular behavior, but is passed from one generation to another. Fragile X is a group of disorders caused by a mutation in a gene on the X chromosome. It may be carried by both males and females and can be diagnosed through DNA testing.
The Centers for Disease Control lists these physical and behavioral signs as an indication of Fragile X:
- Not sitting, walking, or talking as early as other children (this is known as having developmental delays)
- Learning disabilities
- Speech and language delays
- Behavioral problems such as attention-deficit/hyperactivity disorder (ADHD)
Children often have a typical facial appearance that gets more noticeable with age. These features include:
- A large head
- A long face
- Prominent ears, chin, and forehead
Males who have fragile X syndrome usually have some degree of intellectual disability that can range from mild to severe. Females with fragile X syndrome can have normal intelligence or some degree of intellectual disability with or without learning disabilities. Autism spectrum disorders also occur more frequently in children with fragile X syndrome.
There is currently no cure for Fragile X. Diagnosis, education, and intervention (speech and language therapy, behavior therapy, physical therapy, etc.) can greatly improve the lives of those affected. In some case, medication is also beneficial. The physical, emotional, and financial impact on the family is profound.
How can you help? The House Resolution (H.RES.611) in support of the goals and ideals of “Fragile X Awareness Day” is still in need of co-sponsors. You can further the cause of Fragile X awareness and funding by asking your representative to co-sponsor the bill if they have not already done so.
The resolution “urges physicians and health providers to utilize available diagnostic, developmental screening and surveillance modalities to better diagnose Fragile X-associated Disorders, private and public health insurance entities to provide full coverage for these diagnostic tools, and the National Institutes of Health (NIH) and related member institutes to fully implement the NIH Research Plan on Fragile X Syndrome and Associated Disorders.”
On March 3 of this year, U.S. Representative Gregg Harper (R-MS) issued this statement:
“As the only member of Congress who has a child with Fragile X, I understand the challenges that face thousands of families who experience this condition. “My wife, Sidney, and I are committed to making sure there is increased awareness and funding to help those families who are blessed with a child with Fragile X.”
Answer the Call to Action today.
For more information about Fragile X Syndrome:
Centers for Disease Control: Learn More About Fragile X Syndrome
Centers for Disease Control: What Health Problems Can Affect People Who Have a Fragile X Premutation?
National Institutes of Health: NIH Issues Research Plan on Fragile X Syndrome and Associated Disorders (7/20/09)
Photo credit: FragileX.org