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  • Ep 13 Maura McNamara

    Ep 13 Maura McNamara
    2025/03/21
    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 時間 4 分
  • EP 12 Ming Lim

    EP 12 Ming Lim
    2025/03/15
    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 分
  • EP 11 Bhavna Dias

    EP 11 Bhavna Dias
    2025/03/08
    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 分
  • EP 10 Rachel Heilmann

    EP 10 Rachel Heilmann
    2025/02/28
    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 分
  • EP 9 Sunitha Malepati

    EP 9 Sunitha Malepati
    2025/02/16
    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 分
  • EP 8 Yiwei She

    EP 8 Yiwei She
    2025/02/01
    In this powerful episode of Rare Awareness Radio, we sit down with Yiwei She, founder of the TNPO2 Foundation, to discuss her inspiring journey from mathematician and AI professional to rare disease advocate. When her son, Leo, was diagnosed with an ultra-rare genetic condition, Yiwei refused to accept the lack of treatment options. Instead, she launched a foundation dedicated to advancing precision medicine and improving early genetic diagnoses for children with rare diseases. We dive into the challenges of navigating the healthcare system, the groundbreaking role of AI and biotech in drug development, and the fight for equitable access to life-saving treatments. Yiwei also shares the mission behind Project Baby Lion, an initiative designed to accelerate diagnoses and connect families with the right resources. This episode is a must-listen for anyone passionate about medical innovation, rare disease advocacy, and the power of technology to transform lives. 🔗 Learn more about the TNPO2 Foundation: tnpo2.org
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    31 分
  • EP 7 Zeke and Chanin Zaragoza

    EP 7 Zeke and Chanin Zaragoza
    2025/01/19
    In this powerful episode of Rare Awareness Radio, we welcome Chanin Zaragoza and her son Zeke, who share their inspiring journey navigating life with Opsoclonus-Myoclonus-Ataxia Syndrome (OMS). Diagnosed at just three years old, Zeke's path has been marked by resilience, determination, and unwavering faith. Zeke’s incredible achievements, including playing Division 1 football at Oklahoma State University, defy expectations and showcase the power of hope and perseverance. Alongside his mother, Chanin, Zeke has turned his personal story into a platform for advocacy, inspiring countless others affected by rare diseases. Together, they discuss the challenges of diagnosis, the role of community and faith, and their ongoing mission to bring awareness to OMS and support other families facing similar battles.
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    34 分
  • EP 6 Adam Clatworthy

    EP 6 Adam Clatworthy
    2025/01/05
    In this heartfelt episode, we welcome Adam Clatworthy, founder of CRELD1 Warriors, a UK-based charity supporting families affected by the ultra-rare genetic condition CRELD1. Adam shares his deeply personal journey navigating his children's diagnoses, building a global community, and advocating for awareness and research. Learn how one family's determination creates a lifeline for others in the rare disease community. Listen now to hear Adam’s inspiring story of resilience, community, and hope. For more information, please visit https://www.creld1.com/
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    47 分