The 2025 NORD® Rare Diseases & Orphan Products Breakthrough Summit® was more than a gathering. It was a declaration. Well over 800 patient advocates, families, researchers, clinicians, and industry showed up to drive progress for the 30 million-plus Americans living with rare diseases.
Amid a government shutdown that has disrupted health care, slowed research, and strained complex systems, you came to the NORD Breakthrough Summit with questions – and a commitment to creating solutions.
What makes the rare disease community remarkable is how we respond to the uncertainty we face every day: with persistence, creativity, and unwavering resolve. This was on full display during this year’s event, captured through our theme: From Voices to Breakthroughs.
Throughout the event, we asked: What are you raising your voice for? The answers were moving, diverse, and deeply inspiring. Keep reading to delve into our key takeaways and discover how you can keep the momentum going.
Voices That Echoed
From the main stage to one-on-one moments, voices rose for:
- Patients and families leading research and treatment development from the start and staying at the center of every decision.
- Smarter, more flexible rare disease pathways that allow regulatory decisions to consider the full patient experience, even when data is limited. For example, the newly created Food and Drug Administration Commissioner’s National Priority Voucher pilot program, which reduces review times to 1-2 months from 10-12 months. Speakers on the Navigating the Regulatory Landscape panel heralded this as promising, although the impact on other applications remains to be seen.
- Increased and sustainable funding to accelerate rare disease discoveries and deliver life-saving treatments faster and more widely.
- Policies that work for rare diseases, including renewing the Rare Pediatric Disease Priority Review Voucher (RPD PRV), which incentivizes companies to develop treatments for children with rare diseases.
- Access for all, everywhere, ensuring every person can participate in clinical trials, receive care, and benefit from new treatments, no matter where they live.
- Whole-person care, including mental health support for patients and caregivers, recognizing the full experience of living with a rare condition.
Registered attendees have access to session recordings in the event app. If you missed the event, don’t worry! Session recordings will be made available for purchase in December. Join NORD’s email list so you don’t miss a moment.
Advancing Breakthroughs
Breakthroughs highlighted during the event included:
- An approved therapy for Barth Syndrome: After a decade of patient-driven research and advocacy, including natural history studies, expanded access, and tailored endpoints, the Food and Drug Administration (FDA) in September granted accelerated approval for Stealth BioTherapeutics’ therapy for this ultra-rare condition.
- AI is speeding up rare disease drug discovery: AI has significantly reduced early-stage drug development timelines, and AI-predicted molecules have successfully moved into clinical trials, including for rare conditions like neurofibromatosis type 1 (NF1).
- Sensory restoration through gene therapy: Regeneron Pharmaceuticals’ gene therapy targeting congenital hearing loss successfully restored hearing in children, marking one of the first demonstrations of sensory restoration through gene therapy and offering new hope beyond cochlear implants.
- Potential for bipartisan progress: Staff from the offices of Rep. Gus Bilirakis (R-FL) and Rep. Doris Matsui (D-CA), both members of the House committee overseeing much of the nation’s health care legislation, emphasized a shared commitment to advancing policies that support the rare disease community. They noted a particular interest in returning to bipartisan efforts like the Accelerating Kids’ Access to Care Act of 2025, which both lawmakers co-sponsored and which continues to enjoy broad cross-party support.
- We are stronger together: The NORD Breakthrough Summit underscored the power of community — when one rare disease community experiences progress, we all move forward. From fast friendships formed among those who truly understand, to youth advocates like Micah, who founded Transplant Teenz so no other kids would experience the lack of peer support he faced after receiving a heart transplant, we united in our shared mission.
Moments That Moved Us
From powerful testimonies to joyful moments of connection, these highlights captured the heart of the rare disease community. You are why we continue to raise our voices and push for breakthroughs. Here’s a glimpse of some of the moments that moved us at the 2025 Breakthrough Summit.
Amid the third week of a government shutdown that kept many of our partners from attending in person, a surprise appearance by Sen. Amy Klobuchar of Minnesota – a co-chair of the bipartisan Rare Disease Congressional Caucus – brought the crowd to their feet. She shared how her own daughter’s early complex medical challenges continue to inform and shape her commitment to fight for millions of families and individuals with rare diseases.
Dynamic mother-daughter duo Donna and Ashley Appell brought new meaning to “umbrella organization,” recognizing NORD as the protector and champion of our incredible community, rain or shine. They brought their zebra umbrella out to remind us that “Life isn’t about waiting for the storms to pass but learning to dance in the rain.”
With extraordinary courage and love, Shelley Bowen shared her story of turning the unthinkable loss of her sons Evan and Michael into lasting impact – the first approved treatment for Barth Syndrome. Shelley embodies the rare community’s unwavering belief in fighting for better tomorrows, even through profound loss.
Smashing Pumpkins (not the band)
After sharing what it’s like to live with mucopolysaccharidosis type I (MPS I) on the Summit stage youth panel, Christopher Hohn didn’t stop there. He and his brother Jacob led a late-night rally of dedicated advocates – including fellow youth panelist, Avery Garrison, NORD Chief Executive Pamela Gavin, and NORD Chief Strategy & Operations Officer Kelly Esperias – to head outside to literally “smash out MPS” by smashing pumpkins together. It got loud, it got joyful, and thanks to our parent clean-up squad, D.C. streets were restored to their original sparkle. Advocacy with a pumpkin twist.
What Comes Next
The 2025 NORD Breakthrough Summit may have ended, but our movement is every day. What makes this event so powerful isn’t only the sessions and the speakers, but how many of you show up, year after year.
Showing up is the first step, and speaking up is the second. Change happens when our voices unite and we take the third, fourth, and more next steps together. Because until every rare disease has a treatment — or treatments — we are not slowing down. And we cannot do this alone.
Alone we are rare. Together we are strong. And together, we are driving progress.
Here’s how to keep showing up for the rare disease community:
- Raise your voice: Save rare disease pediatric innovation and urge your legislators to reauthorize the Rare Pediatric Disease Priority Review Voucher Program before the end of the year.
- Meet us in Milwaukee: Get expert advice and make lasting connections to help you as you navigate life with a rare disease at the Living Rare, Living Stronger patient and family event in Milwaukee on Nov. 8.
- Dive into rare science and rare solutions: Mark April 14-15, 2026, on your calendars for the second annual NORD Rare Disease Scientific Symposium, an opportunity for researchers, clinicians, industry leaders, and advocates to push boundaries and bridge gaps across the rare disease landscape.
- Return to D.C.: Save the date for next year’s Breakthrough Summit, Oct. 25-27, 2026, in Washington, D.C., so we can continue raising our voices and taking critical next steps together.
Your voice sparked something powerful. Let’s keep raising it until every rare disease community sees the breakthroughs they deserve.
Thank you for being part of our community. We also thank all of our 2025 Breakthrough Summit sponsors, including Platinum Sponsors Sanofi and Takeda Pharmaceuticals and Gold Sponsor Travere Therapeutics, for their generous support.
