Fighting Fabry Disease One Newborn Blood Sample at a Time

Written by Rachelen Varghese

I am lucky to call the Jones’ my friends. Brian Jones is a practicing nephrologist in Asheville, North Carolina who met his wife, Tia, while he was attending medical school in South Carolina. In 2018, Brian was finishing his last year of medical school, and the couple was celebrating their recent wedding, when Brian was diagnosed with Fabry disease (FD). Shortly after his diagnosis, five more of his family members also tested positive for the inherited condition.

FD is a rare metabolic genetic disorder caused by a mutation in the α-galactosidase A (GLA) gene which creates a deficiency of the lysosomal enzyme, alpha-Gal A and an accumulation of GL3. Those with this condition can experience a wide variety of symptoms including neuropathic pain, gastrointestinal dysfunction, heat intolerance, and abnormal sweating (hypohydrosis and hyperhydrosis). Diagnosis is often delayed as symptoms are often written off as “growing pains” or irritable bowel syndrome. Lifestyle changes are often recommended as a first attempt at addressing patients’ complaints.

In the weeks following Brian’s life-changing diagnosis, the couple moved to Rochester, Minnesota so that Brian could start his internal medicine residency program at the Mayo Clinic and begin undergoing enzyme replacement therapy. Tia navigated the mountain of insurance claims during Brian’s infusion sessions, and she soon found out that their copay assistance program could not help pay for infusion therapy drugs. Together, Brian and Tia approached their state representatives and began their first advocacy effort. Their tireless persistence led to the legislation amendment that reads, “For the purposes of this paragraph, “prescription drug” includes prescription drugs that are administered through infusion, and related services and supplies.” This single sentence has improved the lives of many Minnesota residents affected by FD and other conditions that are treated using infusion therapies.

Brian and Tia

Brian and Tia quickly learned that early access to treatment options could positively impact the quality of life of those affected by FD. This understanding is now what drives the Jones’ mission to advocate on both state and federal levels for inclusion of FD on newborn screening panels across America. In 2018, they established Testing for Tots, a nonprofit organization that aims to empower families impacted by FD. They joined the Fabry Support & Information Group (FSIG) as an affiliate program and have since spoken at several conferences and assisted many families affected by FD. Tia is passionate about empowering families with critical early screening access. She also enjoys sharing lifestyle resources that can help those living with FD, including creative low-sodium recipes. Brian is passionate about political activism and has used his platform to serve as the Treasurer of the Lysosomal Storage Disease Coalition (LSDC), which partners with additional lysosomal storage disorder (LSD) organizations to advocate for newborn screening at a state level.

Since Brian and Tia began their advocacy work about six years ago, the Testing for Tots team has made strides to include FD in state newborn screening panels in Georgia, Utah, Colorado and Nebraska. The organization is currently lobbying for legislative changes in Massachusetts and South Carolina and plans to continue its work until every American has access to critical FD diagnostic and treatment resources.

The Jones’ goal of sharing their story is to bring hope to those affected by FD and raise public awareness of the condition. I am looking forward to helping them reach their goal of seeing all states screen for this rare genetic metabolic condition to improve access to care for affected families.

 


Author Bio: Rachelen Varghese is the newborn screening coordinator for Testing for Tots, a program affiliated with the Fabry Support & Information Group that aims to support early diagnosis initiatives for Fabry disease through newborn screening. She joined the organization in February 2022. Rachelen uses her research background to lead the group’s partnerships with State Advisory Committees and medical boards focused on expanding accessibility to newborn screenings for Fabry disease. She also is the creative director for the organization’s social media platforms, where she leads patient education initiatives including Face of Fabry, Newborn Screening Awareness Month, and other fun ways to connect members of the Fabry community and improve the quality of life.

Follow us