Episodios

  • 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 m
  • 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 m
  • 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 m
  • 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 m
  • 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 m
  • 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 m
  • EP 31 Kristin Anderson

    EP 31 Kristin Anderson
    Nov 30 2025
    Rare Awareness Radio with Kristin Anderson (v-ATPase Alliance) In this deeply moving and insightful episode of Rare Awareness Radio, host Richard Juknavorian sits down with Kristin Anderson, co-founder of the v-ATPase Alliance, a global community of parents, caregivers, scientists, and advocates dedicated to one of the world’s ultra-rare neurodevelopmental disorders. Kristin shares the powerful story of her son Jacob’s diagnostic journey, the overwhelming isolation of initially finding no information or community, and the spark that led her to create a Facebook group that slowly—over many months—began connecting families from across the world. Today, that spark has become an international alliance serving fewer than 100 known patients worldwide across several v-ATPase-related genes. Together, Richard and Kristin explore: 🔬 The Science & Rarity Why v-ATPase disorders are considered ultra-ultra rare How recent genetic discoveries (2018–2022) are transforming diagnosis The critical importance of early access to whole-exome and whole-genome testing 🤝 Building Community Across Oceans How families meet monthly over Zoom to share updates, grief, hope, and progress The profound connections formed through shared lived experience The emotional realities of meeting other parents face-to-face—sometimes in moments of both joy and heartbreak 📣 Advocacy, Policy & Research Why data sharing and patient registries (via Global Genes/RareX) are essential for future treatments The Alliance’s work with researchers in Italy and around the world How rare communities band together across diagnoses to push for scientific advancement The urgent need for policy change to democratize genetic testing ❤️ A Mother’s Determination Kristin opens up about balancing life with three boys (including her joyful, nonverbal 12-year-old son), the impact on siblings, and how her background in business, marketing, and nonprofit leadership shaped her approach to advocacy. She shares her belief that while the Alliance may not find answers in time for every child today, the work being done now will help future generations. 💡 Call to Action Kristin leaves viewers with a powerful message: “Please care about rare.” Support equitable access to genetic testing. Support legislation that accelerates rare disease research. Support families who live these journeys every day. And when possible, support with radical generosity. ✨ About This Series Rare Awareness Radio amplifies the voices of rare disease families, scientists, founders, and advocates working tirelessly to bring light to conditions that the world often overlooks. For more information, please visit - https://vatpasealliance.org/
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    40 m
  • EP 30 Iazsmin Ventura

    EP 30 Iazsmin Ventura
    Nov 16 2025
    In this powerful episode of Rare Awareness Radio, host Richard Juknavorian sits down with Dr. Iazsmin Bauer-Ventura, an adult rheumatologist at the University of Chicago whose work centers on idiopathic inflammatory myopathies and interstitial lung disease (ILD). As part of our ongoing myositis series, this conversation brings a crucial clinical and research perspective to a disease that is frequently misunderstood, misdiagnosed, and underfunded. Dr. Ventura breaks down: - What myositis really is—and why it’s a multi-system autoimmune disease - How muscle, skin, and lung involvement intersect in complex ways - Why multidisciplinary care (rheumatology, pulmonology, dermatology, neurology) is essential - Recent advances in treatment, including IVIG and promising clinical trial pipelines - How inequities, mistrust, and insurance gaps shape patient outcomes - The urgent consequences of declining federal research funding - Practical, empowering advice for newly diagnosed patients and caregivers She also shares her personal journey—from growing up in Brazil to becoming a physician-researcher at one of the nation’s leading ILD and myositis centers. This is one of our most comprehensive and insightful episodes yet—rich with clarity, compassion, and real-world guidance for anyone affected by myositis or rare autoimmune conditions. 🌐 Learn more: Myositis Association — myositis.org Rare Awareness Radio — rareawarenessradio.org
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    39 m