Rare Disease Day Heroes 2026
For six years, Mix Talent has marked Rare Disease Day by spotlighting the people who define resilience in the rare disease community, from relentless patients to pioneering advocates. These Rare Heroes do more than drive change; they provide the heart and mission that fuel the life sciences industry.
We are honored to introduce our 2026 Rare Heroes. Below, we share the stories of their motivation and the specific ways they support patients, caregivers, and the scientific teams working to bring first-in-class therapies to those who need them most.
Jeff Allen
The Challenger
My journey with rare disease began when my youngest son, Lucas, started missing developmental milestones around eight months old. What followed was a 20-month diagnostic odyssey filled with uncertainty and fear, until we finally received a diagnosis: creatine transporter deficiency (CTD), a rare genetic disorder that prevents the brain, heart, and muscles from accessing essential energy.
That diagnosis changed everything. My focus shifted from my career to advocacy and action. I now serve on the board of the Association for Creatine Deficiencies, where I work alongside other parents, researchers, and advocates to fund research, push for newborn screening, and support families navigating this disease.
Along the way, I’ve organized awareness efforts like a 365-mile “Ruck 4 Rare” across California and used my platform – including winning $10 million on MrBeast’s Beast Games – to help accelerate research toward a cure. From March 2–6, we’re taking that mission even further as we host our second Ruck 4 Rare, rucking five marathons in five days and finishing at Beast City alongside members of the Beast Games Season 2 Top 10 to raise awareness and funds for creatine transporter deficiency (learn more at Ruck4Rare.com). CTD has taught me profound lessons about resilience and purpose. It’s turned our family’s hardest moments into a mission to fight for something bigger than ourselves.
What gives me hope is the accelerating momentum in CTD research. Dedicated scientists, the ACD community, and a small number of courageous pharmaceutical partners are driving real progress, from small molecule approaches to gene therapy. Every breakthrough, no matter how incremental, brings us closer to giving kids like Lucas the energy their brains deserve and a future that is meaningful and independent.
At the heart of everything I do is my family – my wife Jen, and my sons Jack and Lucas. Their strength, love, and resilience fuel my advocacy every single day. We fight for progress while also taking time to connect, celebrate small wins, and cherish the moments that matter most.
Shelley Bowen
The Catalyst
I am the mother of two boys, Michael and Evan, who died from Barth syndrome. Along with four other parents, I co-founded the Barth Syndrome Foundation because doing nothing was not an option. At the time, my son was still living with Barth syndrome, and I knew firsthand how urgent the need was – for answers, for research, and for a community that truly understood.
After Michael died in 2009, I didn’t leave. The lives of people I deeply cared about were still in peril as a result of Barth syndrome. I also knew how powerful it was to belong to a community that “got it” when so few others could begin to fathom what families were facing. One of the core values of the Barth Syndrome Foundation is simple and unwavering: we will never, ever give up. We don’t just say it, we live it.
Years ago, a doctor once told me it was a tragedy that my son had such a rare disease – affecting only one in a million males – because no one would ever do research that could lead to a life-saving therapy. I told him, “Maybe you won’t develop a therapy for Barth syndrome, but someone will.”
After 25 years, the first therapy for Barth syndrome has now been approved by the FDA. I am deeply grateful to the researchers who challenged the status quo and recognized that status quo is not status perfect. Targeted therapies can save lives, and progress is possible – even in the rarest conditions.
Today, I continue this work because I believe every family deserves hope and advocacy. Until every rare disease has a therapy, we will keep building, pushing, and believing in what’s possible.
Amy Grover
The Connector
My work in rare disease advocacy is grounded in a belief that patients must always be the protagonist. That philosophy guides everything we do at Catalyst Pharmaceuticals, from how we think about medicine development to how we support patients and families living with rare diseases like Duchenne muscular dystrophy and Lambert-Eaton myasthenic syndrome.
One of the initiatives I’m most proud of is the Catalyst Advocacy Scholars Summit, a one-of-a-kind program created in partnership with The University of Notre Dame’s Patient Advocacy minor. Together, we designed an immersive learning experience that brings students into the real-world opportunities and challenges of delivering medicine to people living with rare diseases.
This collaboration grew from a shared commitment to elevating patient perspectives – not as an afterthought, but as a core competency. Notre Dame’s science and patient advocacy minor is distinctive in higher education, and it reflects a growing recognition that advocacy deserves formal academic study and integration across disciplines. By partnering with Notre Dame, we’re helping ensure the next generation of professionals enters the field with patient-centered thinking embedded from the start.
Patient focus shapes how we approach every stage of medicine development. It influences clinical trial design, helps minimize burden on patients and families, and ensures we prioritize outcomes that matter most to those living with disease. It also carries through commercialization – guiding access strategies, support programs, and educational initiatives that are designed to serve real patient needs.
At Catalyst, we’ve seen how patient-centered thinking leads to better outcomes for patients and for long-term sustainability. Programs like the Catalyst Advocacy Scholars Summit are an investment in the future of rare disease medicine – one where patient voices inform every stage of development, delivery, and care.
Seth Corcoran
The Voice
Our journey with rare disease began in 2024, when our son, Crew, was diagnosed with Primary Immune Disease after several years of searching for answers. That diagnosis changed the way our family approaches life and the way we show up for one another.
Living with rare disease has brought a deeper sense of perspective. Every day feels brighter, and we are more grateful for the gift of life and the moments we share as a family.
What gives us hope is continued progress in care, including advancements in administration and improvements to infusion processes that support patients and families navigating treatment.
I’m deeply passionate about advocating for my son and supporting him as he grows and lives his life without limits. Along the way, we’ve learned how important it is to trust your instincts, ask questions, and fight for the care your child needs.
To other families on this journey: follow your gut, keep pushing for answers, and be the voice for the ones who can’t always speak for themselves.
Pamela Gavin
The Unifier
My journey into rare disease began more than 30 years ago, when my nephew Trevor was diagnosed at the age of two with a rare neurological condition called metachromatic leukodystrophy, or MLD. Like so many families facing a rare disease diagnosis, we experienced heartbreak, isolation, and overwhelming uncertainty. During that time, the National Organization for Rare Disorders was a critical source of support and information for our family.
That experience profoundly shaped my life and career. It fuels my commitment to ensuring that no family faces rare disease alone, and that patients and caregivers have access to the care, resources, and hope they deserve.
Today, I am encouraged by the remarkable progress we’re seeing across rare diseases. Advances in genetics, gene therapy, and personalized medicine are opening doors that didn’t exist even a decade ago, creating real possibilities for treatments – and in some cases, cures – for diseases once thought untreatable.
I’m also inspired by the growing spirit of collaboration across the rare disease ecosystem. Patients, researchers, clinicians, industry, and policymakers are increasingly working together to share knowledge, data, and best practices. This cooperation is essential given the urgency and scale of rare diseases, and it’s powerful to see leaders set aside competition to focus on solutions that impact millions of people.
At the heart of my work is a deep belief that patients and caregivers must remain central to everything we do. Their lived experiences are invaluable, and their voices must guide research priorities, care delivery, and public policy. I am equally committed to advancing equity in rare diseases, ensuring that diagnosis, expert care, treatments, and research opportunities reach people of every background.
Progress in rare diseases has always been driven by collective effort. It’s how the founders of NORD helped pass the Orphan Drug Act more than 40 years ago, and it remains true today. Hence, NORD’s tagline: “Alone we are rare.” Together we are strong.
Christina Crowther
The Advocate
My experience with rare disease began in 2015, when my husband, John, was unexpectedly diagnosed with a neuroendocrine tumor. What started as a night of severe abdominal pain in the ER quickly became a life-altering moment for our family. After extensive testing and a follow-up with an oncologist, the diagnosis was confirmed. A second opinion at Dana-Farber revealed that John had a functional neuroendocrine tumor that had metastasized to his liver.
At the time, we knew nothing about this rare disease – but we had to learn fast. Researching treatment options and understanding the complex symptoms of “functional” neuroendocrine tumors became a lifeline, helping us make sense of something that felt unimaginable.
Functional neuroendocrine tumors can cause carcinoid syndrome and elevated serotonin levels, which over time lead to thickening and weakening of the right-sided heart valves. Not everyone diagnosed with a neuroendocrine tumor experiences these symptoms – but John faced every one of them. Just as he would begin to stabilize, a new symptom or setback would emerge, pulling him back into uncertainty.
Witnessing how this disease gradually stripped away his independence was heartbreaking and reinforced for me how much more there is to learn about these rare and complex tumors.
As John’s primary caregiver – while raising our three children and working full time – navigating his diagnosis required constant balance, strength, and resilience. Even in the most difficult moments, supporting him was both an honor and an act of love. John lost his battle on June 17, 2020, but I carry his memory forward every day.
I continue to advocate for greater awareness of neuroendocrine tumors, determined to honor my husband’s life and support other families facing this rare and complicated disease. Advances in research and treatment give me hope, and I remain committed to learning, sharing, and helping move this community forward.
David Richards
The Believer
As CEO of Clarametyx Biosciences, I’ve spent the last five years leading a team focused on advancing novel technology with the potential to address complex, biofilm-driven respiratory diseases. Most recently, we completed a Phase 2a clinical trial in cystic fibrosis, a rare and debilitating disease marked by progressive decline in lung function. Our goal is to deliver innovation that can meaningfully improve the outlook for individuals living with these conditions.
Rare disease is not only part of my professional life – it has also deeply affected my family. That personal connection has strengthened my commitment to advancing new solutions and making greater progress against diseases that too often lack effective options.
What gives me hope is the growing momentum across the rare disease community. Individually, these diseases may be rare, but together they impact millions of people. We’re seeing increased awareness, stronger community-building, and the rise of patient advocacy organizations dedicated to serving those affected. The Cystic Fibrosis Foundation, in particular, has been an incredible partner and leader, setting a gold standard through advocacy and venture philanthropy.
I’m also encouraged by continued investment in research, new company formation, and partnerships that fuel innovation. Clarametyx is one of many organizations working toward this shared goal.
My passions are rooted in pediatric rare disease, mental health, and simplifying the delivery of care and medicines – each shaped by personal experience. Most personal of all is my family’s journey. My third child, Leona, passed away in 2020 after battling an exceptionally rare genetic condition for the two years she lived. We were blessed to have her, and her strength continues to motivate my family and me to pursue hard challenges and advocate for others.
This work is a marathon, not a sprint. But it is worth every step if it can help even one person facing a rare disease diagnosis. I believe deeply in choosing hope, asking for help when needed, and trusting that progress – though sometimes slow – is possible when we work together.
Below are some of the non-profits our Rare Disease Heroes support – to learn more or help support rare disease treatment, research, and awareness, click on the logos below.
