Battling Cystinosis: Perspectives from a Doctor and a Patient Turned Advocate

This episode was originally released on November 30, 2022 | Holland & Knight's Public Policy & Regulation Group is proud to partner with the Rare Disease Diversity Coalition (RDDC) for a three-part podcast series highlighting diverse perspectives on genetic testing and kidney disease. RDDC brings together health and diversity advocates, rare disease specialists and industry leaders to identify and advocate for evidenced-based solutions to alleviate the disproportionate burden of rare diseases on communities of color. This series, co-hosted by Senior Policy Advisor Shawna Watley and Advocacy Relations Professional and RDCC Consultant Deanna Darlington, lifts up important voices from the field and educates listeners about the experiences of those living with rare diseases. Special thanks to Vertex Pharmaceuticals and Travere Therapeutics for their sponsorship and support of this podcast.In this episode, our co-hosts are joined by Sara Healy and Dr. Agnes Lo Costello. Sara has a rare genetic disease known as cystinosis. Cystinosis is a lysosomal storage disorder that targets the body's organs and if left untreated, can lead to kidney failure. Sara has been involved with the Cystinosis Research Network and continues to advocate for cystinosis patients. As a medical affairs and clinical development leader, Dr. Agnes Lo Costello provides consulting services to the biotechnology companies. She shares her experience and insights to support clinical development and bring new and novel therapeutic agents to patients. Her therapeutic knowledge includes transplant immunology, immune-mediated diseases, metabolic diseases, kidney diseases and rare diseases. Together, they discuss cystinosis and the many challenges faced by both sides when dealing with a rare genetic kidney disease. This discussion also emphasizes the importance of genetic testing and the barriers that exist for diverse communities as it relates to getting tested.