Fragile X syndrome Awareness Day is July 22nd. To raise awareness and offer support for those affected with Fragile X syndrome, countless families and friends throughout the United States come together during the month of July. Organizations such as the National Fragile X Foundation promote efforts to better understand and treat Fragile X syndrome as well as Fragile X associated disorders.
Fragile X syndrome (FXS) is a genetic disorder that causes cognitive and developmental disability. It is the most common single gene cause of intellectual disability in boys. FXS is one of three Fragile X associated disorders. Other Fragile X associated disorders include Fragile X associated Tremor/Ataxia Syndrome (FXTAS), which affects the nervous system later in life, and Fragile X associated Primary Ovarian Insufficiency (FXPOI), which leads to early menopause and infertility. FXS, FXTAS and FXPOI are caused by a change in the FMR1 gene.
A carrier of Fragile X syndrome has an altered version of the FMR1 gene that can lead to having a child with FXS. Typically, carriers of genetic conditions are healthy. However, in Fragile X, this definition doesn’t quite fit. Carriers of a Fragile X premutation are at risk to develop FXTAS and FXPOI. In the United States, approximately 1 in 151 females and 1 in 468 males are carriers of a Fragile X premutation. A proportion of Fragile X premutation carriers will show symptoms of FXTAS and FXPOI.
Before or during pregnancy, you can have a genetic test to determine if you are a carrier of Fragile X syndrome. This has important implications for your health as well as your baby’s health. Though this testing is often routine, it is especially important to examine your risk of being a carrier if you have a family history of autism, intellectual disability, premature ovarian insufficiency, or an adult-onset progressive neurological disorder.
To learn more about FXS and its associated disorders, please visit CooperGenomics.com/diseases. Also visit FragileX.org to learn about the National Fragile X Foundation, and how you can help raise money for FXS research. You can participate in this year’s national Let ‘Em Know Virtual 5K or attend the 14th International Fragile X Conference.