Friedreich’s ataxia (FA) is a rare disease that progressively causes damage to neurons and leads to the impairment of voluntary movement. For Alex Fielding, FA has caused coordination issues and low energy that has gotten worse over the years. He was diagnosed in his mid-twenties, shortly after earning a master’s degree in Chemical Engineering and moving from Rhode Island to Texas to begin his career.

“This was a hard time to be given a diagnosis of a rare, incurable, progressive, degenerative neuromuscular disease,” Alex said.” "It took many years to accept the diagnosis.”

He subsequently moved back home to Rhode Island, leaning on his nearby Family, and over the years, has given up many of his beloved hobbies and activities.

Alex currently utilizes his engineering skills by working as the vice president of operations at his Family’s manufacturing company in Rhode Island. The work is tough and keeps him on his feet, but Alex considers the challenge to be therapeutic. The work environment allows him to focus on something other than his disease and helps him to maintain his independence. Outside of work, Alex spends time with his Family and friends, participating in dinner parties and sailing trips. In the warmer months, he likes to ride his recumbent tricycle around town and along trails in the region.

Alex also volunteers a substantial amount of his time to the Friedreich’s Ataxia Research Alliance (FARA) and other opportunities within the FA community. As a patient ambassador and member of FARA’s board of directors, he supports grassroots fundraising events, speaks with regulators and industry partners, and connects with other people with FA. He enjoys educating supporters about FARA-supported research efforts and sharing his personal insights with the research community.

Clinicians, researchers, and industry partners regularly attend FARA-sponsored events, and Alex gets to see firsthand their commitment to the FA community. He is impressed by their dedication and believes support from the research community is especially critical for a rare disease like FA.

Alex became involved with the Congressionally Directed Medical Research Programs (CDMRP) and the Peer Reviewed Medical Research Program (PRMRP) when he was advocating to the U.S. Congress for more FA research funding. His hard work helped to add FA as a Topic Area for the PRMRP in fiscal year 2022. Recognition of these efforts led to him being invited to serve as a fiscal year 2022 PRMRP consumer reviewer on a peer review panel. At first, the process seemed daunting to Alex. After reading through the training material and attending a few virtual meetings, he became comfortable with the process and appreciated how much the scientists and technical experts valued his opinion.

“The CDMRP allows the patient voice to drive scientific progress and provides hope for future therapies and treatments,” Alex said. FA will be offered as a PRMRP Topic Area again in fiscal year 2023 as “Hereditary Ataxia.”

The dedication of advocates like Alex is imperative to the future of research for rare diseases like FA. Despite the progress made, there is no cure for FA, and Alex is constantly adapting to new symptoms and developing new coping mechanisms to deal with them. His determination, drive for independence, and passion for moving the FA research field forward empowers him to keep fighting.

“No one chooses a disease, but everyone chooses how to react to that diagnosis,” Alex said. “Choose to fight, to advocate, and advance scientific progress through networking and collaboration.”

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 Defense position, policy, or decision.