Episodes

  • 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
  • EP 38 Tanya Chute Nagy and Nicole Pallone

    EP 38 Tanya Chute Nagy and Nicole Pallone
    Mar 14 2026
    What happens when a routine newborn screening call changes your life forever? In this episode of Rare Awareness Radio, host Richard Juknavorian speaks with two powerful advocates in the PKU community — Nicole Pallone and Tanya Chute Nagy from CanPKU+. Both Nicole and Tanya are parents of children living with Phenylketonuria (PKU) — a rare genetic metabolic disorder that requires lifelong dietary management and constant vigilance. What began as a deeply personal journey for their families has grown into a mission to support thousands of others navigating the same path. Nicole serves as Chair of the Board, and Tanya serves as CEO and President of CanPKU+, a national organization dedicated to education, advocacy, research awareness, and community support for individuals and families affected by PKU and allied disorders. In this powerful conversation, we explore: • The moment parents receive the PKU diagnosis • What daily life managing PKU really looks like • The emotional journey families experience after diagnosis • Why community support is critical in rare diseases • The advocacy work happening across Canada • How parents transform into leaders and change-makers Rare diseases can often feel isolating — but stories like these remind us that community, advocacy, and shared knowledge can change everything. CALL TO ACTION If you want to learn more about PKU, support families living with the condition, or get involved in advocacy efforts, please visit: https://canpku.org You’ll find resources, programs, and ways to support the incredible work being done for the PKU community. About Rare Awareness Radio Rare Awareness Radio brings together patients, families, researchers, clinicians, and advocates working to advance awareness, understanding, and progress across the rare disease community. Each episode shares real stories and real voices from those living and leading in the rare disease space. Please visit - https://rareawarenessradio.org/ If you found this conversation meaningful: • Like the video • Subscribe to the channel • Share this episode with someone who cares about rare disease awareness Every share helps amplify these important voices. #RareDisease #PKU #Phenylketonuria #RareDiseaseAwareness #MetabolicDisorders #PKUCommunity #PatientAdvocacy #RareAwarenessRadio
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    45 mins
  • EP 37 John Adams

    EP 37 John Adams
    Mar 7 2026
    Episode Description In this episode of Rare Awareness Radio, host Richard Juknavorian sits down with John Adams, a passionate advocate and leader with CANPKU+, the Canadian organization supporting individuals and families affected by phenylketonuria (PKU) and related metabolic disorders. John’s journey into rare disease advocacy began when his son was diagnosed with PKU shortly after birth through newborn screening. What started as a deeply personal experience quickly evolved into decades of advocacy—working to improve awareness, policy, treatment access, and outcomes for families living with rare metabolic conditions. In this conversation, John shares powerful stories from his family’s journey, including the challenges of navigating a rare diagnosis, the evolution of PKU treatment, and the life-changing impact of medical innovation. He also discusses the critical role of newborn screening, the importance of community and patient organizations, and why advocacy remains essential in advancing research and improving care for people living with rare diseases. John’s perspective is shaped not only by his son’s experience with PKU, but also by his own complex health journey and years of working to build stronger support systems for families across Canada and beyond. This episode highlights the power of persistence, patient advocacy, and the global rare disease community working together to drive meaningful change. 🎧 Listen now and learn more about PKU, rare disease advocacy, and the people pushing the boundaries of innovation and care. --- ### About Rare Awareness Radio **Rare Awareness Radio** is dedicated to amplifying the voices of patients, advocates, researchers, and innovators working to improve the lives of people living with rare diseases. Find out more at: https://rareawarenessradio.org/ --- ### Topics Covered • Phenylketonuria (PKU) • Newborn screening and early diagnosis • Patient advocacy and policy • Rare disease innovation and drug development • Building community for rare disease families CANPKU+: https://www.canpku.org #RareDisease #PKU #Phenylketonuria #RareAwareness #PatientAdvocacy #NewbornScreening #HealthInnovation #RareDiseaseCommunity
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    52 mins
  • EP 36 Jordan Kruse

    EP 36 Jordan Kruse
    Feb 15 2026
    Jordan Kruse | Fighting for a Cure for OTCD What happens when a newborn appears perfectly healthy… and within days everything changes? In this episode of Rare Awareness Radio, we speak with Jordan Kruse, a mother, educator, and advocate whose son Pruitt was diagnosed with OTCD (Ornithine Transcarbamylase Deficiency) — a rare genetic disorder that prevents the body from safely removing ammonia. Elevated ammonia levels can rapidly become toxic to the brain, and early detection can mean the difference between survival and tragedy. Pruitt passed his newborn screening and showed no immediate warning signs. But when subtle feeding and breathing changes appeared, Jordan trusted her instincts. By the time ammonia testing was performed, his levels were critically high — a delay that reshaped her family’s life forever. Out of that loss, Jordan and her husband founded the Brave Little One Foundation to: • Raise awareness of OTCD and urea cycle disorders • Advocate for earlier ammonia testing in newborn emergencies • Support families navigating serious pediatric medical conditions • Help move research closer to a cure This conversation is about more than one family’s story — It’s about recognition, advocacy, community, and the impact of rare disease awareness on saving lives. If you work in healthcare, are a parent, or simply want to understand why rare disease education matters, this episode is essential listening. Learn More & Support: Brave Little One Foundation: https://sites.google.com/view/thebrav... Follow on Instagram: https://www.instagram.com/brave.littleone/ CureOTCD: https://cureotcd.com/
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    30 mins
  • EP 35 Bruce Morimoto

    EP 35 Bruce Morimoto
    Feb 1 2026
    Episode Title: Advancing Hope Through Science: Dr. Bruce Morimoto on V-ATPase Disorders Episode Description: In this episode of Rare Awareness Radio, host Richard Juknavorian speaks with Dr. Bruce Morimoto, a translational medicine expert with nearly 30 years of experience in CNS drug development, about the science, challenges, and hope surrounding ultra-rare V-ATPase–related neurological disorders. Dr. Morimoto, who serves on the scientific board of the V-ATPase Alliance, helps break down the complex biology behind these disorders in a way that families, caregivers, and advocates can understand. He explains how mutations that occur in utero affect critical cellular machinery, contributing to developmental delays, seizures, and other neurological symptoms. The conversation explores: 🔬 Why basic science research is the foundation for future treatments 🧬 The growing promise of personalized medicine and oligonucleotide-based therapies 📊 The importance of patient journey data and biological sample collection 🏥 How clinical trials must be designed around what truly matters to patients and families 🤝 The power of collaboration across researchers, clinicians, regulators, and rare disease communities 💙 The critical need for caregiver support and connection so families don’t feel alone Dr. Morimoto also shares a hopeful five-year vision: stronger global networks, deeper biological understanding, shared learnings across diseases like Parkinson’s and ALS, and the first meaningful therapeutic efforts emerging for this community. This episode is a reminder that progress in rare disease doesn’t happen in isolation — it happens through science, shared data, and people who refuse to give up. 🎧 Listen in to learn how momentum is building — and why awareness, community, and research today can shape treatments tomorrow. For more information, please visit https://vatpasealliance.org/
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    35 mins
  • EP 34 Beth McKenzie and Dave Robertson

    EP 34 Beth McKenzie and Dave Robertson
    Jan 17 2026
    In this episode of Rare Awareness Radio, Richard speaks with Beth McKenzie and Dave Robertson, parents of Lucy and active members of the V-ATPase Alliance, a global, parent-led organization dedicated to research, advocacy, and community for families affected by rare V-ATPase genetic conditions. Beth, a longtime special education teacher, and Dave, a third-year medical student who transitioned from a career in oil and gas after Lucy’s diagnosis, share an honest and heartfelt look at their family’s journey. They reflect on the “diagnostic odyssey,” the challenges of navigating an ultra-rare condition, and the profound relief of finding a community through the V-ATPase Alliance. The conversation offers a window into daily life — from coordinating complex medical care and feeding support, to the importance of school, family, and community in Lucy’s life. Beth and Dave also discuss the power of parent-to-parent “life hacks,” the emotional weight of uncertainty, and the hope they hold for research that could one day benefit their daughter and others like her. Above all, this episode is a testament to resilience, empathy, and collective action — showing how families transform personal challenges into shared purpose, connection, and advocacy. For more information, please vist https://vatpasealliance.org/
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    39 mins
  • EP 33 Ana Rita Moreira

    EP 33 Ana Rita Moreira
    Jan 3 2026
    In this episode of Rare Awareness Radio, Richard Juknavorian sits down with Ana Rita Moreira Moreira, Founder, Co-Founder, and President of the v-ATPase Alliance — a volunteer-led global advocacy and research movement she built alongside neuroscientist Luis Oliveira and advocate Kristin Anderson. Ana Rita shares the story of their son Danny, one of only 27 children in the world living with an ultra-rare genetic mutation in the ATP6V0C gene — a diagnosis that came with no name, no roadmap, and almost no answers. What Ana Rita did next changed everything. With a rare blend of economics, brand communications, and founder intuition, she helped transform isolation into organized action: launching a multilingual website in 100+ languages, mobilizing families across continents, collecting patient-reported outcomes, securing EMRs through AI-enabled platforms like Citizen, and building a centralized bio-repository to de-risk and accelerate research investment. This conversation captures the heart of the rare-disease community — where connection beats competition, small victories become shared milestones, and hope turns into momentum. Call to Action: If you’re a parent, advocate, researcher, clinician, or volunteer with expertise in legal, accounting, research, marketing, operations, or tech — your contribution matters. Even a few hours can help power the impossible. Find the Alliance: v-ATPase Alliance Website - https://vatpasealliance.org/ v-ATPase Alliance on Social Media - https://www.instagram.com/vatpasealliance Hosted by: Richard Juknavorian Podcast produced in partnership with: Principled Research Resources Let’s amplify. Let’s accelerate. Let’s support every family where they are — and move rare knowledge forward, faster.
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    39 mins
  • EP 32 Luis Oliveira

    EP 32 Luis Oliveira
    Dec 20 2025
    In this episode of Rare Awareness Radio, host Richard Juknavorian sits down with Luis Oliveira, a neuroscientist, researcher at the Michael J. Fox Foundation, and co-founder of the V-ATPase Alliance—a global effort supporting families affected by ultra-rare genetic disorders linked to V-ATPase gene mutations. Luis brings a rare dual perspective to the conversation: that of a scientist deeply trained in neurodegenerative disease research, and that of a parent navigating life with a child affected by a developmental and epileptic encephalopathy. Together, these experiences shape his mission to turn uncertainty, isolation, and under-diagnosis into collaboration, research momentum, and hope. In this wide-ranging and deeply human conversation, we explore: - What V-ATPase genes do at a cellular level—and why their disruption can lead to severe neurological, renal, and metabolic conditions - The challenges families face when diagnoses are rare, recently described, and poorly understood - Why community building is just as critical as biomedical research in the rare disease ecosystem - How the V-ATPase Alliance is accelerating progress through patient data collection, biomarker development, biobanking, and drug repurposing efforts - The urgent need for interdisciplinary collaboration across clinicians, researchers, and families - And how love, resilience, and advocacy intersect in the life of Luis’ son, Danny, who inspires everything this work represents This episode is a powerful reminder that rare disease research doesn’t start in the lab—it starts with families refusing to accept “there’s nothing we can do.” Whether you’re a parent, clinician, researcher, advocate, donor, or simply someone seeking to better understand the rare disease landscape, this conversation offers insight, clarity, and purpose. 🎙️ Listen, learn, and join the movement to bring visibility, collaboration, and momentum to the rarest conditions among us. For more information, visit https://vatpasealliance.org/
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    40 mins