Inside Rare Disease Stories: Meet the FAM Heroes Racing Toward a Cure 🎧

It’s a gift to share rare disease stories of heroes who work tirelessly to accelerate cures for FAM disorder. Check out these four inspiring podcast episodes on Rare Awareness Radio that feature our founder, a researcher, a physician, and a parent in the FAM movement. You can witness our holistic, powerful community that is working together to discover a cure. 

Listen to FAM Rare Disease Stories

🎙️ Check out Jill Hawkin’s episode from December 2024 about how she founded FAM177A1 Research Fund, she and her husband Doug’s 15-year diagnostic odyssey with their two children, the future of FAM research, and the FAM bio bank. “[Jill’s] story is one of courage, hope, and relentless advocacy,” Richard Juknavorian of Rare Awareness Radio. 

Thank you Richard for highlighting our foundation with these three additional FAM heroes:

🎙️ Dr. Nicole “Nikki” Legro—a physician, researcher, and rising leader in the rare disease space—reflects on the long and winding path that led to her groundbreaking work helping to define the FAM177A1-related disorder through the NIH’s Undiagnosed Diseases Network and Stanford University. Dr. Legro was instrumental in helping us put FAM177A1 Related Neurodevelopmental Disorder (FRND) on the medical map and connected us with our first other affected family! 

🎙️ Janet Vasquez, a devoted mother of two daughters diagnosed with FRND, or FAM Disorder. In this podcast, Janet opens up about her family's journey—from the early signs and missed diagnoses to navigating daily life, advocacy, and the emotional toll of feeling isolated. She shares powerful insights on the importance of trusting your instincts as a parent, fighting for answers, and finding community through rare disease networks. Follow Janet on Tik Tok (janetvasquez956) for an inside glimpse of life with her two gorgeous FAM warriors.

🎙️ Dr. Clement Chow, Associate Professor of Human Genetics at the University of Utah School of Medicine discusses how a recent drug repurposing screen focused on FAM177A1 deficiency. Hear how his team screened over 1,500 FDA-approved drugs using a fly model exhibiting a lethal phenotype—an innovative, cost-effective approach that could fast-track treatments for rare disease communities.

Every day, families are waiting for a cure for their beloved children and we are so lucky to work with this vibrant community that is coming together to solve the complexity of FRND (FAM Disorder).