The Voice of the Patient Report: PFDD Meeting

In this week’s episode we look back at the PFDD meeting that led to the Voice of The Patient Report, a landmark document in the fight for better treatment options for those living with Classic Galactosemiathegalactosemiapodcast.com – support the show; ad-free and early access episodesWatch the full PFDD meeting or download the VOP Report here: https://rarediseases.org/externally-led-patient-focused-drug-development-meeting-for-galactosemia/00:00 – Introduction04:00 – Welcome from NORD and the Galactosemia Foundation05:00 – A History of the Galactosemia Foundation06:00 – Defining “Unmet Needs” for Classic Galactosemia07:00 – Clinical Overview with Dr. Judy Fridovich-Keil13:00 – The Impact of Dietary Management: Life-Saving but Not Enough17:00 – Long-Term Complications Despite Early Intervention20:00 – Dr. Sheila Farrah’s Remarks from the FDA21:00 – First Panel: Family Stories Begin22:00 – Jillian’s Story: Penelope’s Metabolic Crisis and Ongoing Trials27:00 – Elaine’s Story: Loss, Disability, and Lifelong Care28:00 – Cassidy’s Story: Slow Processing, Financial Strain29:00 – Natalie’s Story: Two Children, Cerebral Palsy, and Hormone Therapy30:00 – Maureen’s Story: POI and Lifelong Academic Struggles31:00 – Community Discussion: Seizures, Delays, and Systemic Failures32:00 – Amber’s Story: Clinical Trial Progress and Tremor Improvement33:00 – Tiffany’s Story: Speech and Occupational Therapy Needs34:00 – Heather’s Story: Treatment Access and Out-of-Pocket Costs35:00 – Amy’s Story: Clinical Trial Experience and the Ethics of Placebo36:00 – Final Reflections: The Need for Treatment Is Clear37:00 – Brittany and Scott Close the Meeting: What Comes Next?