How a Parent-Led Movement Grows: Sue Lomas (Phelan-McDermid Syndrome Foundation)

Sue Lomas

Phelan-McDermid Syndrome Foundation community leader

Sue Lomas helped build the Phelan-McDermid Syndrome community in the earliest days—when families were scattered, information was scarce, and finding “your people” took persistence. In this conversation, Sue and I talk about how rare-disease communities form, why early diagnosis and genetics matter, and how parent-led foundations can accelerate research by connecting families, clinicians, and scientists. We also explore the emotional side of the journey: the turning points that reshape what you believe is possible, the role of family support behind the scenes, and what purpose looks like after stepping away from a long mission. If you’re a rare disease parent, advocate, researcher, or someone who cares about the future of gene-based medicine—this one is for you. If this resonates, please like, subscribe, and share it with a family who needs hope today. Chapters 00:00 Cold Open: A moment that captures the mission 01:33 Connecting with other foundations (learning by reaching out) 03:42 Turning point: realizing more is possible (communication) 06:40 The feeling of acceleration in research and progress 09:53 The early days: “by luck” and finding the right people 11:49 First conferences and building real community 13:49 The support system: partnership and what it takes 16:19 Early diagnosis & genetics (why it matters) 19:09 Growing a foundation while staying cohesive 22:03 “Shank3” in a classroom: when awareness spreads 25:08 How this journey changes parents over time 29:43 Advice for parents: planning, siblings, and support 33:17 Retirement, purpose, and what comes next 36:50 Final reflections and gratitude #phelanmcdermidsyndrome #shank3 #raredisease #generationhope #RareDiseaseAdvocacy #genetherapy #genetics #specialneedsparenting