Living with FA, Leading in Research: FA Patient-Researchers Present at ICAR 2024

At the Friedreich’s Ataxia Research Alliance (FARA), we believe that transformative change lies at the intersection of people and science. A critical part of this vision is elevating the patient voice in research—from the lab to the clinic. By including Friedreich’s ataxia (FA) patients in the research process, we can ensure that the focus remains on practical, impactful solutions that address the real needs of the community.

Researchers who also live with FA bring a unique and invaluable perspective to the table  — one that combines personal understanding with scientific rigor.

In November, three researchers living with FA presented their work at the International Congress for Ataxia Research (ICAR) in London, UK. ICAR 2024 was the largest-ever scientific conference solely focused on ataxia research, with over 600 researchers, clinicians, and industry professionals attending.

Meet Elizabeth Mercado-Ayon

Elizabeth Mercado-Ayon is a PhD candidate at the University of Pennsylvania in Cellular and Molecular Biology, where she investigates the circuits of the cerebellum in FA mouse models. Elizabeth’s work is focused on understanding how the brain processes motor coordination and how these processes are disrupted in FA.

Photo of Elizabeth Mercado-Ayon in front of her research poster at ICAR 2024

Meet Christian Maugee

Christian Maugee is a PhD candidate at the University of Florida in Genetics and Genomics, where his research explores how gene expression differs in the hearts of individuals with FA. His work could lead to new insights into the cardiac complications that can be associated with FA.

Photo of Christian Maugee in front of his research poster at ICAR 2024

Meet Dr. Caroline Spencer

Caroline Spencer, PhD, is an Assistant Professor at Indiana University in the Department of Speech, Language, and Hearing Sciences. She is the Director of the Speech Production, Imaging, and Neuroscience (SPIN) lab, where her research focuses on understanding the neural and behavioral mechanisms that underlie speech production disorders, including those associated with ataxia.

Photo of Caroline Spencer, PhD, in front of her research poster at ICAR 2024

Insights from Elizabeth, Christian, and Caroline

Elizabeth, Christian, and Caroline contribute to advancing scientific knowledge but also share powerful personal stories about how their diagnosis has shaped their paths as researchers.

Elizabeth Mercado-Ayon reflects on the transformative power of her diagnosis:
“As an undergraduate biology student, I had many goals that lacked clarity. In my junior year, I was diagnosed with Friedreich ataxia. Initially, this diagnosis caused much pain—as it was supposed to. Soon, I realized that my diagnosis clarified my landscape of perception in my studies and in my life. Friedreich ataxia oriented my goals, helping me envision a clear pathway toward becoming a researcher in a highly specialized field—one whose impact I could directly experience in my own life. Friedreich ataxia pathophysiology is very interesting and needs further exploration. In my FA research pathway, there are obstacles and facilitators. My most important facilitator is my mentor, David Lynch—he makes things possible. My interest in biology and life circumstances are intertwined for my destiny. And I value and am grateful for it.”

Dr. Caroline Spencer shares her personal growth through involvement in FA research:
“For me, being actively involved in FA research is a mark of personal growth. When I was first diagnosed, I didn’t even want to read anything about FA because it made me too depressed and scared of the future. After a few years, I realized there was such a need for education and research about the patient experience and that I could help with that. Now, instead of feeling scared, I feel excited to be part of such a collaborative scientific community and to be able to “pay it forward” so other patients have an easier time living with ataxia.”

Christian Maugee speaks about the impact of his research on both his life and the lives of others with FA:
“Every battle I fight against FA—whether it’s raising awareness, participating in research, or conducting experiments—brings us one step closer to a cure. I believe that, together, we will cure FA.”

Christian also has a powerful message for his research colleagues:
“What you do definitely impacts our lives. Thank you for those late nights in the lab, for going in on weekends, and for everything you do—even when it feels like progress is slow. Just know that your work adds hope to the world. For those of us with ataxia, although the future may be uncertain, it is hopeful. Thank you.”

Your Voice Matters: Patient-Centered Research

Your voice is crucial in the pursuit of treatments for FA, whether you're living with FA, an FA researcher, or even both.

Patient-centered research is built on the idea that the experiences and insights of those living with the disease must guide and inform scientific inquiry. Whether through participating in clinical trials, sharing your symptoms and challenges with doctors and researchers, or advocating for better care, each contribution helps shape the course of research. Your insights help ensure that research isn’t just theoretical but is grounded in the lived reality of those affected by the disease.

At FARA, we are committed to fostering an environment where all voices— from patients, caregivers, researchers, and advocates—are heard and valued. We believe that the potential for progress accelerates when the broader FA community comes together to share their experiences and perspectives.