For Lexi Marshall, the symptoms started gradually: severe fatigue, falling asleep midday, and shortness of breath. Like many rare disease patients, she initially expected a simple explanation—perhaps a diet deficiency. Instead, she began a challenging journey through numerous transfusions and procedures during the peak of COVID-19 before finally receiving her Fanconi anemia diagnosis.
As Marshall recalls, “I thought I’d be given a prescription for some iron and sent on my merry way. That could not have been further from the case.”
While individually uncommon, rare diseases collectively impact approximately 30 million Americans and 300-400 million people worldwide. Their stories—spanning lengthy diagnostic odysseys, becoming their own researchers, and transforming into powerful advocates—took center stage at a recent forum that highlighted the critical importance of patient voices in drug development.
Ultragenyx Senior Director of State Government Affairs Erin Frey, and the emcee for the MassBio Rare Disease Day Forum, noted, “Rare is not rare… every one disease is rare, but when you put them all together, it’s 10 percent of the population.”
For those living with rare conditions, the journey to diagnosis and treatment can be long and isolating. Tony Frangie, VP of Strategy & New Product Launches for Takeda’s U.S. Neuroscience Business Unit, shared insights about patients with narcolepsy who may struggle for 10-15 years before receiving an accurate diagnosis, facing skepticism about symptoms like uncontrollable daytime sleepiness that significantly impact their daily lives.
Frangie explained, “it isn’t like you’re sitting in the room listening to me talk about a condition and you start to nod off… here we’re talking about an irrepressible drive to sleep, something that you can’t control.”
From Parents to Advocates
Board members of the ZTTK SON-Shine Foundation, husband and wife team Ada Lio and Nathan Guo, know this journey intimately. As first-time parents caring for their two-year-old son Lucas, who has a rare neurodevelopmental disorder, they’ve become researchers, network builders, and treatment accelerators—all while maintaining full-time jobs. Their story echoes countless others where families transform into scientific experts and tireless advocates out of necessity.
Congresswoman Lori Trahan emphasized the impact of the work of families like Ada and Nathan in her keynote address: “Your work changes lives. It gives hope to families. It ensures that patients who are facing rare and complex diseases have a fighting chance.”
During a panel discussing the very difficult patient journey, Tamar Thompson (Vice President, Head of Corporate Affairs at Alexion, AstraZeneca Rare Disease), highlighted that much of the research is conducted by patients or parents of patients because “they just don’t have a choice.” Families often pioneer research into ultra-rare conditions when no one else is focused on them.
Director of Boston Children’s Hospital Manton Center for Orphan Disease Research Dr. Alan Beggs, reinforced this point, describing medical research as “a table with four legs” where “patients are helping us realize what it is we need to do.” The other three legs according to Dr. Beggs? Academic researchers, industry, and the regulators, like the FDA.
This sentiment was echoed by Ada, who stated, “We are that patient voice. And we are willing to work so hard to bring in the patient voice and do everything we can to help our children.”
Building Bridges Between Patients and Innovation
Massachusetts stands at the forefront of fostering crucial connections between patients and research. With over 6,000 clinical trials occurring at more than 100 hospitals across the Commonwealth, the state provides unique opportunities for patient voices to shape medical innovation. This collaborative ecosystem has already yielded breakthrough treatments, including recent FDA approvals for previously untreatable conditions.
The importance of early and consistent patient involvement in drug development cannot be overstated. Associate Director for Rare Disease Strategy at the FDA’s Rare Disease Innovation Hub Amy Rick explained, “the real purpose is to address from a policy perspective rare disease and drug development and involve patients in that as much as possible.” Engaging with patients helps ensure clinical trials are designed appropriately, endpoints are meaningful, and treatments address what matters most to those affected.
Recent policy developments are helping to strengthen the connection between patients and research. The FDA’s new Rare Disease Innovation Hub represents a significant step toward embedding patient perspectives in drug development from the earliest stages. This initiative is designed to accelerate therapy development through enhanced engagement between regulators and the rare disease community.
A Call for Continued Progress
Despite recent advances, challenges remain. Congresswoman Trahan emphasized the urgency of the situation: “Kids battling rare diseases shouldn’t have to wait for Washington to get its act together. They need access to treatments and specialized care right now.”
She committed to continuing bipartisan efforts to support medical innovation, reinforcing her and her colleague’s plans, “to protect NIH funding, and to pass legislation that helps get treatments to patients faster.”
During a separate panel including members of the Rare Disease Advisory Council (RDAC), Chair Dr. Dylan Tierney, State Senator Paul Feeney, and State Representative Jay Livingstone discussed the importance of the work of the rare disease community in helping them pass meaningful legislation.
Senator Feeney emphasized that understanding the reason behind actions is what propels policy forward, “It’s the why that drives policy. Every time I meet somebody in the rare disease community, I always say start with your why. We’ll get to the rest but start with your why. And that why has been so effective in moving us.”
For those working in rare disease research and development, the message from patients is clear. As Marshall urged: “If you’re working in the rare disease space and haven’t talked to a patient, I would highly encourage you to do so. We want to talk to you, we want to know what’s next in the pipeline, and you’ll learn something that’s not in the textbooks.”
Photos from Rare Disease Day
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