On May 5, 2022, The Wall Street Journal Weekend Edition showcased an article called “The Surprising Legacy of a Genetic Disorder” by Dr. Anne Skomorowsky. The essay summarizes the history of Fragile X and the evolution of understanding around the Fragile X premutation condition and its impact through one family’s experience.

Dr. Skomorowsky writes about the differences between being a carrier of Fragile X versus a carrier for other genetic conditions.

While being a carrier for a genetic condition typically does not pose any risk for the carrier themselves, being a Fragile X premutation carrier is different. Being a Fragile X premutation carrier — male or female — comes with the potential for various associated conditions that impact female fertility, mental, and physical health. The more we understand about the Fragile X premutation condition, the more healthcare and treatments can evolve to positively affect quality of life for these men and women.

The impact of being a Fragile X premutation carrier is important for the individual and for families living with Fragile X. It underlines the important of awareness of Fragile X and genetic testing, as well as access to quality healthcare. According to the WSJ, they have a national print audience of 4.3 million and a digital global audience of 67.5 million unique readers per month.

We are excited that millions of people are now more aware of Fragile X because of Dr. Skomorowsky’s essay and continue to hope and work for better awareness of all Fragile X-associated conditions.

Do you want to learn more about these conditions? Check out our links below.

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Premutation Carriers
Traditionally, a carrier of a genetic mutation is defined as a person who inherits an altered form of a gene but shows no effects of that mutation. However, in Fragile X this definition does not exactly fit, as carriers of a premutation are at risk to develop Fragile X-associated disorders.

Fragile X-Associated Primary Ovarian Insufficiency (FXPOI)
Fragile X-associated primary ovarian insufficiency, one of three known Fragile X-associated disorders caused by changes in the FMR1 gene, is a condition in which the ovaries are not functioning at full capacity in an FMR1 premutation carrier.

Fragile X–Associated Tremor/Ataxia Syndrome (FXTAS)
Fragile X–associated tremor/ataxia syndrome is an “adult onset” neurodegenerative disorder, usually affecting males over 50 years of age. Females comprise only a small part of the FXTAS population, and their symptoms tend to be less severe.

International Fragile X Premutation Registry
Clinicians, researchers, and family representatives from around the world have partnered with the NFXF to create an international premutation research registry.