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Rare Awareness Radio

Rare Awareness Radio

By: Rare Awareness Radio
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Summary

 Shedding light on underrepresented diseases and the efforts of non-profit foundations working tirelessly to support those affected.All rights reserved Economics
Episodes
  • EP 41 Beth Potter

    EP 41 Beth Potter
    May 3 2026
    What if the biggest breakthroughs in rare disease aren’t just new treatments… but better data, stronger collaboration, and listening to patients? In this powerful episode, we sit down with Dr. Beth Potter, a leading researcher at the University of Ottawa, to uncover the hidden engine driving rare disease progress: registries, research, and real-world evidence. From the early days of newborn screening to today’s rapidly evolving treatment landscape, Dr. Potter takes us inside the fight to better understand conditions like PKU (Phenylketonuria)—and why we’re still far from “solving” them. In this episode, we explore: Why rare disease registries could change everything The truth about living with PKU beyond childhood How patient voices are reshaping research priorities The barriers no one talks about (data, privacy, fragmented systems) Why collaboration—not competition—is the future of rare disease innovation The takeaway? Breakthroughs don’t happen in silos. They happen when researchers, patients, and communities come together—globally. This episode is part of our ongoing series with CanPKU+ and the INFORM RARE Research Network, spotlighting the people pushing rare disease research forward. 🎧 Whether you're in healthcare, research, policy—or part of the rare disease community—this conversation will change how you think about progress. 👉 Listen now. Share widely. Be part of the movement. For more on CanPKU+, visit - https://canpku.org/ For more on INFORM RARE, please visit - https://www.informrare.ca/ #RareDisease #PKU #HealthcareInnovation #PublicHealth #PatientVoice #ResearchMatters #RareAwarenessRadio
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    31 mins
  • EP 40 Maureen Smith

    EP 40 Maureen Smith
    Apr 19 2026
    How can rare disease research become more human, more effective, and more accountable to the people it’s meant to serve? In this powerful episode of Rare Awareness Radio, host Richard Juknavorian speaks with Maureen Smith, a lifelong rare disease advocate whose journey began as a child participant in clinical trials and evolved into decades of leadership in patient-partnered research. From her own lived experience with an ultra-rare condition to her national work advancing research collaboration, Maureen offers a compelling vision for the future of rare disease innovation. Together, Richard and Maureen explore why patients must be more than research subjects—they must be true partners in study design, governance, clinical trials, and outcome measurement. Maureen shares lessons from her work with CANPKU+, including the development of registries, core outcome sets, youth engagement initiatives, and strategies to reduce power imbalances between institutions and families. This conversation also tackles urgent questions about funding, tokenism, transparency, and how research priorities should be driven by real, unmet needs—not by academic curiosity alone. Maureen’s insights are practical, passionate, and deeply earned. If you care about patient-centered healthcare, rare disease advocacy, clinical research reform, or the power of lived experience, this is an episode you won’t want to miss. More on CANPKU+: https://canpku.org/ More on Rare Awareness Radio: https://rareawarenessradio.org/ #RareAwarenessRadio #RareDisease #PatientAdvocacy #ClinicalResearch #RareDiseaseResearch #PatientEngagement #PKU #CANPKU #HealthcareInnovation #ResearchPartnerships
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    42 mins
  • EP 39 Melanie Colter

    EP 39 Melanie Colter
    Mar 22 2026
    For eight years, Melanie Colter searched for answers. Her son Mason was living with Homocystinuria (HCU)—a rare metabolic disorder that often goes undetected—but no one knew it yet. There were no obvious warning signs, no dramatic turning points. Just a quiet, invisible risk beneath what appeared to be a normal childhood. Until a routine eye appointment changed everything. In this episode of Rare Awareness Radio, we sit down with Melanie to explore the emotional and medical journey of delayed diagnosis—the uncertainty, the frustration, and the resilience required to keep pushing for answers when the system falls short. She shares what it means to parent a child with HCU, where something as fundamental as protein intake must be carefully managed, and how families learn to navigate a life that balances vigilance with normalcy. But this conversation goes beyond diagnosis. It’s about transformation—from uncertainty to empowerment. From searching for answers to becoming an advocate. Melanie opens up about how she’s using her voice and experience to support other families facing similar challenges, ensuring that fewer children go undiagnosed and unsupported. This is a powerful story of persistence, perspective, and purpose. 🎧 Listen, learn, and share to help raise awareness for rare diseases like HCU. 👉 To learn more, access resources, and support the PKU and HCU community, visit CanPKU+: https://canpku.org/ For more information on Rare Awareness Radio, please visit https://rareawarenessradio.org/ and https://resonancefound.org/ #RareAwarenessRadio #RareDisease #HCU #Homocystinuria #PatientAdvocacy #CaregiverStories #RareDiseaseAwareness
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    38 mins
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