Fragile X (FX) is a rare genetic disorder caused by a mutation on the X chromosome responsible for making a protein necessary for brain development. In Fragile X Syndrome (FXS), this protein is no longer made, which causes delays in the development of brain cells responsible for learning and memory.¹ Alternatively, a different mutation can happen where some protein is still made but does not function properly; this may lead to an FX-Associated Disorder.² FXS symptoms may include mild to severe intellectual disabilities, attention deficit hyperactivity disorder (ADHD), developmental delays, and anxiety.³ FXS can affect both males and females, and symptoms vary from person to person. Almost half of males with FXS have Autism Spectrum Disorder, compared to 16% of females, and epilepsy affects 25% of people with FXS.¹

As a parent of a child with FXS, Jennifer Frobish understands the emotional and physical demands of caring for a child with lifelong special needs. There are no cures for FXS, and primary treatments focus on specialized educational and behavioral strategies like occupational, speech, and physical therapies in addition to medications that help manage symptoms. The Peer Reviewed Medical Research Program (PRMRP) addressed FXS, specifically, as a Topic Area during Fiscal Year 2010 (FY10)�FY16, and FX during FY17�FY22, with a gap year in FY19.

Jennifer is a fierce advocate for FX research in honor of her son, Matthew. Life with her son has posed many challenges that she and her family have to overcome. She explains that much of our society is �built to support neurotypical, healthy individuals,� which can be a �barrier to [the] success and happiness� for those living with special needs and their caregivers. Through her experience as an FXS caregiver, Jennifer has honed her skill of conveying the value and necessity of FX research. She has participated in advocacy campaigns with the National Fragile X Foundation and the Every Life Foundation in their Rare Disease Legislative Advocacy initiative. She also currently serves as the secretary of the Fragile X Resource Center of Missouri, and she has been an ambassador and staff member of the FRAXA Research Foundation, where President and Founder, Katie Clapp, noted Jennifer�s passion and suggested that she participate as a consumer peer reviewer for the PRMRP.

Jennifer urges that advocacy is vital for people with rare diseases or those affected by them. �If the community isn�t making the case for why research is vital, the opportunity is lost,� she says. Jennifer cites the gap in FX funding from PRMRP in FY19 as a lack of federal advocacy efforts. She explained that federal FX advocates assumed federal support was ongoing and therefore did not submit a request for funding, which may have contributed to FX not being named an FY19 PRMRP Topic Area.

Jennifer�s personal experience and her extensive advocacy work have given her insight and understanding of the research needs for improving the lives of FXS patients. She�s �always felt welcomed� when participating in the PRMRP peer review process, and she feels that the PRMRP appreciates her perspective as a consumer reviewer �from someone who lives with the rare disease daily.� She is hopeful that funding FX-specific research will provide better understanding of FX and result in opportunities for new FXS treatments, or even a cure for FX. �We don�t want to �fix� the people we love,� Jennifer clarifies. �We just want them to navigate life more easily and fulfill their dreams.�

The views, opinions, and/or findings contained in this paper are those of the author(s) and should not be construed as an official Department of the Army position, policy, or decision.

References:
¹What is Fragile X Syndrome? FRAXA Research Foundation. https://www.fraxa.org/fragile-x-syndrome/.

²Fragile X-Associated Disorders. Centers for Disease Control and Prevention. https://www.cdc.gov/ncbddd/fxs/associateddisorders.html.

³What are the symptoms of Fragile X Syndrome? National Institute of Child Health and Human Development. https://www.nichd.nih.gov/health/topics/fragilex/conditioninfo/commonsymptoms.