Highlighting Xtraordinary Individuals

Do you know someone who is XTRAORDINARY? Please send us your submission so that we can feature your Xtraordinary individuals during Awareness Month this July!

Learn about Katie Hencak, medical student and Fragile X sibling, who was nominated last fall by her mother Dannielle:

“My daughter is an amazing sibling to her younger brother who has Fragile X. At age 12, she was determined to work in the field of medicine to help children and adults lie her brother. Katie shadowed Dr. Hagerman while she was in college to get a feel of how she could help. She worked in the stem cell lab at the University of Central Florida, specifically with FXTAS cell lines. Katie was officially accepted into medical school in 2020, and started her first year in July 2020, right in the middle of a pandemic. She just completed her first year and is ready to take on the next. At this current time, she is still interested in pediatrics and working with children with disabilities. Her dedication to her brother and the Fragile X community deserves to be recognized. She has worked with disability groups throughout her time at UCF and continues to find ways to connect with her local disability groups.” 

Learn More

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.