Rare Disease Day Heroes 2025
For five years running, Mix has participated in Rare Disease Day by celebrating incredible individuals who are driving change in the rare disease community. From tireless advocates to groundbreaking researchers, these rare heroes are making a lasting impact through their dedication, resilience, and passion.
We’re very excited to introduce our 2025 Rare Heroes. Below, discover the inspiring stories behind their efforts—what motivated them to take action, how they are raising awareness, and the ways they are supporting those affected by rare diseases, including patients, caregivers, and the scientific community working toward new treatments.
Kat Bryant Knudson
The Empowerer
My journey with Limb Girdle Muscular Dystrophy (LGMD) has been shaped by years of uncertainty before finally receiving a genetic diagnosis of LGMD 2i/r9. That moment provided clarity and a renewed sense of purpose: to amplify patient voices and fight for treatments.
That’s why I founded The Speak Foundation, a patient-led nonprofit, in 2008 – to improve the lives of individuals living with LGMD and other rare neuromuscular diseases.
Living with a rare disease that currently has no FDA-approved treatments is incredibly challenging, but I find hope in the progress being made. Today, I’m thrilled to see clinical trials in phase 3, bringing us closer to the possibilities of approved therapies.
Through The Speak Foundation, we have worked to provide tangible support to those navigating the complex realities of rare diseases, whether it’s through grants for durable medical equipment or helping families travel to receive the best neurological care.
For me, it’s essential that patients lead the charge in rare disease advocacy. Our voices should be the loudest in the room when it comes to drug development and societal change. My advice to anyone living with or working in rare disease is to remember that we are stronger together. The cumulative voice of all the patients and workers in rare disease can create change. We do not live in silos, and together we are stronger.
Matt Hawes
The Trailblazer
My journey into the rare disease space began in 2013 at Gilead Sciences, where I helped expand their HIV franchises. Though HIV isn’t typically considered a rare disease, it was my first exposure to serving an underserved and underrepresented patient population for the first time in my 26-year pharma/biotech career. Hearing patient stories of resilience and hope gave me a glimpse of the life-changing impact that this work can have.
In 2019, I joined Global Blood Therapeutics (GBT) to work on Sickle Cell Disease—a community close to my heart, as it primarily affects Black and Brown patients who had been overlooked in medicine for decades. Launching Oxbryta in late 2019 and seeing the incredible patient and provider response was one of the most rewarding experiences of my career, despite the challenges of a global pandemic. It was a privilege to help bring new hope to a community that hadn’t seen new treatments in over 30 years.
After GBT was acquired by Pfizer in 2022, I moved to BridgeBio in early 2024 to lead the buildout of their field force for ATTR-CM, a rare and life-threatening disease. This work is personal: my father, sister, and I were all recently diagnosed with the V122i variant of ATTR-CM. Knowing that my efforts directly impact my family and others navigating this diagnosis gives me a powerful sense of purpose and fuels my passion every day. I’m especially committed to raising awareness in African-American communities, where this condition affects 3-5% of the population but remains underdiagnosed.
Over my 26-year career, I’ve been driven by a love for serving patients and helping others succeed. Whether it’s mentoring team members to achieve their goals or working to improve health equity, I strive to bring passion and energy to everything I do. Life is short, but through collaboration, compassion, and dedication, we have the opportunity to leave a meaningful and lasting imprint on the lives of others.
Two nonprofits that inspire me in this work are the Sickle Cell Disease Association of America (SCDAA) and Amyloidosis Army. SCDAA’s efforts to raise awareness and support for patients living with Sickle Cell Disease have been vital in improving care for this underserved community. Amyloidosis Army works tirelessly to advocate for those battling ATTR-CM, a disease that has profoundly affected my family. These organizations embody the power of collective action and give me hope for a future where all rare disease patients receive the care they need.
Willis and Morgan Edwards
The Persistent
My work in the pharmaceutical industry has long focused on rare diseases, driven by a desire to champion treatments and raise awareness. But this commitment became deeply personal when my daughter, Morgan, was born with SATB2-associated syndrome (SATB2/Glass Syndrome), a condition so rare that only 600 cases have been diagnosed worldwide. Navigating this diagnosis as a father and advocate has taught me invaluable lessons about the challenges faced by rare disease patients and their families.
When Morgan was first diagnosed, we faced the frustration and isolation that come with limited information and resources. However, I’ve also witnessed inspiring advancements in rare disease research and awareness, which bring hope for a brighter future.
Drawing on both my professional expertise and personal experience I’ve worked tirelessly to ensure Morgan—and every child like her—has access to the best possible care and the opportunity to thrive. My family and I are committed to advocating for increased research funding, improved access to resources, and greater understanding of rare diseases, so that no one has to face this journey alone.
A key part of my advocacy is supporting the SATB2 Foundation, which provides critical resources and connects families affected by this ultra-rare condition. Organizations like this are vital in fostering hope and creating networks of support for patients and caregivers alike.
To others navigating the rare disease space, my advice is simple but vital: never stop advocating. Don’t be afraid to ask questions, seek second opinions, and connect with other families and support groups. Your voice matters, and your persistence can make a real difference.
For my family, this has meant pushing past initial challenges to find the correct diagnosis for Morgan, which significantly improved her care and well-being. Through these efforts, I hope to honor the promise we made to Morgan: she will never be defined by her diagnosis.
Cindy Bentley
The Lifeline
My journey with rare disease began over 27 years ago when I was diagnosed with Systemic Scleroderma. At the time, my children were teenagers, and I had never even heard of the condition. As the disease progressed, it began to affect both my internal and external health, limiting my ability to walk and eventually impacting my breathing. More recently, I was diagnosed with Pulmonary Arterial Hypertension (PAH), a rare and complex condition that has added new challenges to my life.
Through it all, I’ve faced life-altering hurdles—personally, professionally, and financially—but I remain determined to stay positive and proactive. I’ve seen firsthand the incredible progress being made in rare disease research and treatment, and I’m proud to have raised money for the National Scleroderma Foundation through birthday fundraisers. It’s heartening to know that charitable contributions are helping fund medications that slow disease progression and improve quality of life.
Outside of my rare disease advocacy, I find joy in my family, watching my three children and six grandchildren thrive. I’m also passionate about animal adoption and have had the privilege of volunteering at the Best Friends Animal Sanctuary in Utah. Before my condition advanced, I loved traveling and taking cruises, which gave me treasured memories to hold on to.
My advice to others navigating autoimmune or rare diseases is to stay strong. Embrace the good days and power through the bad ones, leaning on the support of family, friends, and physicians. You are not alone.
For me, that sense of community has been life-changing, and I hope to continue contributing to greater awareness and understanding of rare diseases. My dream is to live long enough for my grandchildren to remember me—and I hold onto that hope every single day.
Paul Tesar, PhD
The Pioneer
My name is Paul Tesar, PhD, and I am a professor and director of the Institute for Glial Sciences at Case Western Reserve University School of Medicine, as well as the co-founder and president of Convelo Therapeutics, Inc. My career has been dedicated to understanding and developing treatments for diseases where glial cells—cells that support and protect neurons—are missing or dysfunctional.
Over the past 15 years, my research has deeply connected me with children and families affected by rare neurological disorders, particularly leukodystrophies like Pelizaeus-Merzbacher Disease (PMD), where the protective myelin around nerve cells fails to form properly. Their stories are the driving force behind my work, pushing me to translate scientific discoveries into real-world treatments. I am proud to serve as the chair of the PMD Foundation’s Scientific Advisory Board, working alongside this incredible community to drive research, advocate for therapies, and support families affected by PMD.
Our research has led to groundbreaking progress, including the development of ASO (antisense oligonucleotide) suppression of PLP1, which is now being tested in PMD patients through clinical trials with ION356. This represents a major step forward in what is possible for rare disease therapies. The field of genetic medicine is evolving rapidly, and new tools such as CRISPR, ASOs, siRNA, and gene therapy are already transforming treatment approaches. The ability to personalize therapies—including “n=1” trials tailored to individual patients—is opening a new frontier in rare disease treatment. Advances in stem cell and organoid models now allow us to create patient-specific avatars of human tissue, accelerating drug discovery in ways we could have only imagined a decade ago.
I am passionate about translational science—the ability to take an idea from an initial discovery all the way to patient testing. In neurological disease research, glial cells are often overlooked in favor of neurons, yet they play a critical role in brain function and disease. By pioneering glial-focused therapies, we hope to unlock new possibilities for patients with rare neurological disorders.
We must continue to strengthen relationships among scientists, physicians, and patient families. There is often a gap between what researchers study and what patients truly need. Strengthening these connections fosters both understanding and motivation—and leads to life-changing breakthroughs. Additionally, we need sustained advocacy for funding dedicated to rare disease research and therapeutic development. Many breakthroughs in this space started as “unfundable” ideas, but with the right support, they can lead to transformative treatments.
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.
