Episodes

  • EP 16 Felix Chan

    EP 16 Felix Chan
    May 10 2025
    In this powerful episode of Rare Awareness Radio, we sit down with Dr. Felix Chan, Assistant Professor of Pharmacology at the University of Birmingham and a leading voice in rare epilepsy research. Dr. Chan shares his remarkable journey from Indonesia to the U.K. and U.S., and how a life-changing encounter with a patient during his Ph.D. sparked his mission to better understand the devastating impact of rare epilepsies like CRELD1. We explore the multi-organ effects of this ultra-rare genetic condition, the importance of metabolic research in epilepsy, and how Dr. Chan’s lab is using patient-derived cell models, dietary approaches, drug repurposing, and even gene therapy to uncover new treatment possibilities. More than just a researcher, Dr. Chan is a fierce advocate for patient engagement, public policy change, and international collaboration. He reminds us that rare disease research can unlock insights that benefit the entire medical community. 🔬 Topics covered include: What makes CRELD1 so complex and urgent to study The role of metabolism and nutrition in rare epilepsies The importance of cross-disciplinary and global collaboration Patient-led research and the UK’s PPIE (Patient and Public Involvement and Engagement) model Advocacy and raising awareness with policymakers and scientists alike 🎧 Listen now to learn how one researcher’s global journey is helping to unlock hope for families around the world.
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    28 mins
  • EP 15 Dana Brenner

    EP 15 Dana Brenner
    Apr 27 2025
    In this episode of Rare Awareness Radio, we sit down with Dana Brenner, a passionate advocate, parent, and community leader from CRELD1 Warriors. Dana shares her extraordinary journey navigating the complex world of rare disease diagnosis for her son Ray — a journey that spanned nearly a decade before discovering the cause: a newly identified mutation in the CRELD1 gene. Dana opens up about the challenges of raising a child with an undiagnosed condition, the gaps in access to genetic testing and care, and the critical role that parent communities play in driving research, advocacy, and support. She also speaks candidly about broader systemic issues impacting rare disease families and how we can work together to push for change. Through her work with CRELD1 Warriors, Dana is not only helping newly diagnosed families find hope and community, but she is also helping reshape how information and resources are shared in the rare disease landscape. This is a conversation about resilience, empowerment, and the transformative power of connection. If you're part of the rare disease community — or simply want to learn more about how families are creating change — you won't want to miss this episode. 🎙️ Learn more about CRELD1 Warriors: https://www.creld1.com/ 🌟 Follow Rare Awareness Radio for more stories of courage and community. #RareDisease #RareAwarenessRadio #CRELD1 #Advocacy #RareDiseaseCommunity #PatientAdvocacy
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    44 mins
  • EP 14 Jonathan Vargas

    EP 14 Jonathan Vargas
    Apr 20 2025
    Fighting for Juju – A Father's Mission to Raise Awareness for CLN2 Batten Disease In this powerful episode of Rare Awareness Radio, we sit down with Jonathan Vargas, co-founder of Juju and Friends: The CLN2 Warrior Foundation. Jonathan shares his family's emotional journey after his son, Juju, was diagnosed with CLN2 Batten disease—a rare, neurodegenerative condition. From heartbreaking hospital stays to launching a nonprofit advocacy group, Jonathan’s story is one of resilience, relentless love, and the drive to make a difference not just for his own child, but for families everywhere facing rare diseases. 🎙️ Don’t miss this heartfelt conversation about advocacy, hope, and the power of never giving up. 🔗 Learn more: https://give.rarevillage.org/campaign/juju-and-friends-cln2-warrior-foundation/c386658 #RareDiseaseAwareness #CLN2 #BattenDisease #RareAwarenessRadio #ParentAdvocate #JujuAndFriends #DisabilityAdvocacy #HopeForJuju
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    22 mins
  • EP 13 Maura McNamara

    EP 13 Maura McNamara
    Mar 20 2025
    In this powerful episode of Rare Awareness Radio, host Richard Juknavorian sits down in person with Maura McNamara, a devoted mother, healthcare professional, and now author, as she shares her family’s emotional journey through Opsoclonus-Myoclonus-Ataxia Syndrome (OMAS)—a rare and often misunderstood pediatric neurological condition. Maura opens up about the terrifying diagnostic odyssey that began when her daughter Ellery was just two and a half years old, the heartbreak of watching her child’s sudden and unexplained deterioration, and the determination it took to fight for answers and access life-saving treatment. We explore the toll OMAS took on their family, the resilience it built, and how Maura eventually channeled that experience into a beautiful children’s book, Ellery the Brave Celery, written to help others better understand the OMAS journey in a way that is accessible to both kids and adults. This episode is a testament to the strength of rare disease caregivers and the power of storytelling in raising awareness. Whether you’re part of the rare disease community or simply want to hear an inspiring story of love, perseverance, and purpose—you’ll want to tune in. Subscribe for more stories that shed light on rare conditions and celebrate the strength of those affected. Ellery the Brave Celery on Amazon: https://bit.ly/41LQy8m #RareAwarenessRadio #OMASAwareness #RareDisease #MauraMcNamara #ElleryTheCelery #CaregiverJourney #Podcast #RareDiseasePodcast #SoundCloud #YouTube
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    1 hr and 4 mins
  • EP 12 Ming Lim

    EP 12 Ming Lim
    Mar 15 2025
    Unraveling OMAS: Advancing Research & Treatment with Dr. Ming Lim Episode Description: In this episode of Rare Awareness Radio, we sit down with Dr. Ming Lim, a leading expert in pediatric opsoclonus-myoclonus-ataxia syndrome (OMAS), a rare and complex neurological disorder that affects young children. Dr. Lim, a pediatric neurologist at Evelina London Children’s Hospital, shares his insights into the challenges of diagnosing OMAS, the role of neuroblastoma in disease progression, and the latest advancements in treatment strategies. We explore the importance of early intervention, the impact of immunotherapy, and how international collaboration is driving better outcomes for patients worldwide. From the groundbreaking International Consensus Report to the ongoing work in OMAS registries, Dr. Lim explains how researchers and clinicians are working together to improve care for children affected by this condition. He also highlights the critical role of advocacy and patient networks in ensuring better access to treatment and long-term support. Whether you're a parent, caregiver, researcher, or simply interested in rare diseases, this episode offers a deep dive into the evolving landscape of OMAS treatment and research. 🔗 Subscribe & listen now! #RareAwarenessRadio #OMAS #PediatricNeurology #RareDiseases #MedicalResearch #PatientAdvocacy #Neuroblastoma #OpsoclonusMyoclonusAtaxia #DrMingLim #RareDiseaseAwareness
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    32 mins
  • EP 11 Bhavna Dias

    EP 11 Bhavna Dias
    Mar 8 2025
    In this profoundly moving episode of Rare Awareness Radio, host Richard Juknavorian sits down with Bhavna Dias, a passionate advocate for Opsoclonus-Myoclonus-Ataxia Syndrome (OMAS)—a rare and devastating autoimmune neurological disorder. Bhavna's journey with OMAS began when her daughter, Amara, was diagnosed at just 18 months old, sending their family on a harrowing path of misdiagnoses, medical uncertainty, and a relentless fight for answers. Now, as the Executive Director of the UCLA Center for Social Impact, Bhavna blends her public health and policy expertise with her personal mission to improve awareness, research, and support for families navigating the complexities of rare diseases. In this conversation, she shares: ✅ The early signs of OMAS and the challenges of receiving an accurate diagnosis ✅ The emotional and physical toll of caregiving for a child with a rare disease ✅ How her professional background in public health influences her advocacy work ✅ The crucial need for more research, funding, and community support for rare diseases ✅ Her hopes for Amara’s future and why she continues to fight for all OMAS families This episode is an eye-opening look into the realities of parenting a child with a rare disease, the power of advocacy, and the resilience it takes to turn pain into purpose. 💜 Join the conversation and help spread awareness! 🔗 Learn more about OMAS and advocacy efforts at https://omslifefoundation.org/ 📢 Subscribe & follow for more stories on SoundCloud | YouTube | Apple Podcasts | Spotify at https://rareawarenessradio.org/ #RareAwarenessRadio #OMAS #BhavnaDias #RareDiseaseAwareness #AutoimmuneDisorder #PublicHealth #PatientAdvocacy #MedicalMystery #OpsoclonusMyoclonusAtaxia #Podcast #Parenting #Healthcare #RareDiseases
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    39 mins
  • EP 10 Rachel Heilmann

    EP 10 Rachel Heilmann
    Feb 28 2025
    In this powerful episode of Rare Awareness Radio, host Richard Juknavorian sits down with Rachel Heilmann, Co-Founder and President of The Rory Bell Foundation. Rachel shares her deeply personal journey from a career in clinical pharmacy to becoming a fierce advocate for families affected by ultra-rare diseases. After her daughter, Rory, was diagnosed with NARS1, an extremely rare genetic disorder, Rachel was thrust into a world no parent expects. She recounts the struggles of navigating Rory’s diagnosis, the emotional and medical challenges they faced, and ultimately, the heartbreaking loss that reshaped her purpose. Rather than succumbing to grief, Rachel turned it into action—launching The Rory Bell Foundation to bring joy today and hope for tomorrow. She discusses: 🔹 The foundation’s mission to support families and drive groundbreaking research 🔹 The challenges of raising awareness for an ultra-rare disease 🔹 The power of the rare disease community and how they’re changing the future of medicine 🔹 Winning a Chan Zuckerberg Initiative grant and what it means for the foundation’s future This conversation is a testament to resilience, love, and the impact of advocacy. If you’re inspired by stories of perseverance and purpose-driven change, this is an episode you won’t want to miss. 💡 Learn more and support The Rory Bell Foundation: https://therorybellefoundation.org/ 📢 Listen, Subscribe & Share! 🔔 Follow us for more rare disease stories and advocacy conversations. #RareAwarenessRadio #TheRoryBellFoundation #RareDisease #Advocacy #NARS1 #GeneticDisorders #RareNotRare #PatientAdvocacy #HealthcareInnovation
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    45 mins
  • EP 9 Sunitha Malepati

    EP 9 Sunitha Malepati
    Feb 16 2025
    Join us for a compelling episode of Rare Awareness Radio as we welcome Sunita Malipadi — attorney, advocate, and mother — who shares her powerful journey through the rare disease world. 🌿 Sunita's daughter was born with a mutation on the CACNA1A gene, leading to developmental challenges and a two-and-a-half-year diagnostic odyssey. Instead of giving up, Sunita turned her family’s experience into action. She co-founded the CACNA1A Foundation and the Buffalo Initiative, leading the charge in patient-driven rare disease research. For more information, please visit https://www.cacna1a.org/ In this episode, Sunita talks about: 🔹 The emotional rollercoaster of their diagnostic journey. 🔹 Why patient-led advocacy is essential for driving innovation. 🔹 The mission of the Buffalo Initiative to tackle the 'valley of death' in genetic medicine. 🔹 Her hopes for a more equitable and accessible research ecosystem. 💙 Follow us for more inspiring stories from the world of rare disease advocacy. #RareAwarenessRadio #RareDisease #GeneticMedicine #CACNA1A #PatientAdvocacy #BuffaloInitiative #HealthcareInnovation
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    39 mins