Navigating Rare Disease Advocacy: The CurePDE Journey

In this episode of “Moving Medicine Forward” – The Podcast, Christine Eby, Director of Clinical Project Management & Therapeutic Strategy Lead at CTI, Anna Sowa, Chief Mission Officer at CurePDE, Curtis R. Coughlin II, PhD, MS, MBE, Associate Professor, Department of Pediatrics and Center for Bioethics and Humanities, and Kristy McCay, mom of a two-year-old living with pyridoxine-dependent epilepsy (PDE), join together to discuss the ongoing efforts to raise awareness and provide support for those affected by this rare condition. They share insights on the challenges of PDE diagnosis, the importance of newborn screening, and the role of gene editing in treatment. The conversation also explores CurePDE’s advocacy work, its partnerships with organizations like CTI, and the significance of community and patient education in advancing their mission.  0:36 – Introduction of podcast guests: Christine Eby (CTI), Anna Sowa (CurePDE), Dr. Curtis Coughlin II, PhD, MS, MBE, and Kristy McCay (mom of a child with PDE). 1:20 – Overview of CurePDE, a family advocacy organization focused on raising awareness and support for pyridoxine-dependent epilepsy (PDE). 2:29 – Dr. Curtis introduces himself and discusses his involvement with PDE research and the impact of CurePDE’s work in the field. 3:45 – Explanation of PDE from a medical perspective, including common symptoms and challenges faced by patients. 6:40 – Kristy McCay shares her personal journey with her child's PDE diagnosis and the ongoing experience. 7:59 – Kristy reflects on navigating her child’s diagnosis and the challenges of managing a postpartum experience with a new diagnosis. 10:42 – The medical community’s awareness of PDE, including key insights into best practices for diagnosis and treatment. 12:34 – Progress made in advocating for the inclusion of PDE in newborn screening programs. 15:34 – Discussion on a federally recommended panel for states to consider adding to their newborn screening protocols. 16:59 – Lessons other advocacy groups can learn from CurePDE’s work and the importance of understanding each group’s unique journey. 22:06 – How CurePDE is collaborating with organizations like CTI to advance gene editing technology for PDE treatment. 28:06 – Family feedback on gene editing treatments and how families have embraced these new options. 30:44 – The role of organizations like CTI in supporting advocacy groups to further their missions. 36:23 – The significance of community building and patient education in successful advocacy efforts. 41:24 – Activities and support offered to families involved with CurePDE. 43:04 – Advice for other advocacy groups looking to gain recognition and connect with doctors and patients. 44:54 – CurePDE’s fundraising initiatives, where families work together to raise money for the cause. 50:05 – Long-term goals and vision for the future of CurePDE.