National Fragile X Awareness Day Date in the current year: July 22, 2024

Fragile X syndrome (FXS) is a genetic disorder the main symptom of which is a mild to moderate level of intellectual disability. It results from a mutation in the FMR1 gene that is responsible for coding for fragile X messenger ribonucleoprotein, a protein that is essential for the normal development of synapses (connections between neurons). The syndrome occurs in both genders as it is linked to the X chromosome, but men are affected approximately twice as frequently as women.

Fragile X syndrome was first described by two British scientists, geneticist Julia Bell and neurologist James Purdon Martin, in 1943. The term “fragile site” was coined by Frederick Hech in 1970, and the first extensive description of the Fragile X syndrome was provided by Felix F. de la Cruz in 1985.

As we’ve already mentioned above, Fragile X syndrome is primarily characterized by intellectual disability. About a third of those affected by the syndrome have signs of autism such as delayed speech development and social anxiety. Hyperactivity is a common symptom, and about a third of females and the majority of males affected by FXS are also diagnosed with attention deficit hyperactivity disorder (ADHD).

Typical physical symptoms of FXS include larger than normal ears, a long and narrow face, hypermobility of finger and thumb joints, and macroorchidism (large testicles) in males. About 10% of individuals affected by FXS experience seizures.

Fragile X syndrome is not a life-threatening condition and doesn’t considerably affect life expectancy, but it doesn’t mean that you can just ignore it. Although there is no cure for the disorder, therapy and medication can help manage the symptoms and improve the quality of life of those affected.

Management of Fragile X syndrome may include special education, behavioral therapy, physical therapy, speech therapy, and occupational therapy. Medications are sometimes used to treat associated mood problems, ADHD, aggressive behavior, and/or seizures.

National Fragile X Awareness Day was officially recognized by the United States Senate in 2000 and by the United States House the following year. Since then, the National Fragile X Foundation has taken a step further and declared the entire month of July Fragile X Awareness Month. The foundation not only hosts Fragile X awareness events and activities every July, but also works to raise awareness all the year round.

How can you observe National Fragile X Awareness Day? If you’ve never heard about Fragile X syndrome, this is your opportunity to educate yourself; if you already know what FXS is because a family member or a friend is affected by it, help raise awareness of the disorder by posting on social media with the hashtag #FragileXAwarenessDay and/or adding a frame to your social media profile. In addition, you can donate to any organization that funds Fragile X research or organize a fundraiser.