エピソード

  • EP 26 Ed McGrath

    EP 26 Ed McGrath
    2025/09/14
    Rare Awareness Radio — Episode Title: One Step at a Time: Ed McGrath on Love, Advocacy, and Life with Myositis In this powerful episode of Rare Awareness Radio, we sit down with Ed McGrath, a passionate rare disease advocate, loving husband, and longtime partner to Marilyn McGrath, who lives with dermatomyositis—a rare autoimmune disease affecting the skin and muscles. Ed shares their deeply personal journey, beginning with the earliest signs of Marilyn’s illness during an anniversary trip, through a frustrating two-year search for a correct diagnosis. He recounts how they finally found hope and community through the Myositis Association (TMA), attending their first conference in 2013 and never looking back. You’ll hear about: - The emotional and physical toll of dermatomyositis - The impact of misdiagnosis and delayed care - The life-changing power of IVIG therapy - Navigating insurance and advocating for access - Ed and Marilyn’s role as mentors to newly diagnosed families - How community, education, and legislative action can spark change in the rare disease space Whether you're a caregiver, patient, clinician, or advocate, Ed's story is a testament to the strength of partnership, the importance of being your own advocate, and the real-world impact of rare disease awareness. 🔗 Learn more or get involved: 👉 https://www.myositis.org 👉 https://www.rareawarenessradio.org 🎙️ Hosted by Richard Juknavorian 💬 Subscribe, share, and help us amplify the voices of the rare disease community. #RareAwarenessRadio #Dermatomyositis #MyositisAwareness #CaregiverStories #RareDisease #PatientAdvocacy #IVIG #TMA #ChronicIllness #HealthEquity
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    33 分
  • EP 25 Laurie Boyer

    EP 25 Laurie Boyer
    2025/09/01
    Turning Grief Into Purpose – Laurie Boyer, Chair of the Myositis Association 🟣 Rare Awareness Radio – A Podcast Dedicated to the Rare Disease Community In this profoundly moving episode, Richard Juknavorian speaks with Laurie Boyer, Chairperson of the Myositis Association, about her personal and professional journey in rare disease advocacy. After losing her brother to dermatomyositis with interstitial lung disease, Laurie transformed her grief into leadership—stepping into a national role to uplift, connect, and empower the myositis community. Laurie opens up about the early signs of her brother’s illness, the challenges her family faced navigating care, and the powerful impact of showing up—for loved ones, for other families, and for a cause bigger than herself. Together, we explore: What makes myositis so challenging to diagnose and treat The power of interdisciplinary care in rare disease Laurie’s path to board leadership at TMA How support groups and affinity networks reduce isolation Why storytelling, advocacy, and awareness are critical for change What gives Laurie hope for the future of rare disease research and its community 💜 Whether you're newly diagnosed, a caregiver, or an advocate looking to make a difference, this conversation offers empathy, wisdom, and actionable inspiration. 🎙️ "No act is too small." – Laurie Boyer 🔗 To learn more or get involved, visit: https://www.myositis.org 🔔 Subscribe to Rare Awareness Radio for more interviews that elevate the voices of rare disease patients, families, and leaders. #RareAwarenessRadio #Myositis #Dermatomyositis #Autoimmune #RareDisease #Caregiving #Advocacy #Podcast #LaurieBoyer #TMA #InterstitialLungDisease #PatientStories #MyositisAssociation
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    31 分
  • EP 24 Samuel M. Young, Jr., PhD

    EP 24 Samuel M. Young, Jr., PhD
    2025/08/16
    In this episode of Rare Awareness Radio, host Richard Juknavorian sits down with Dr. Sam Young, Director of the Gene Therapy Center at the University of North Carolina at Chapel Hill. From his early days as a Princeton football player turned molecular biology student, to training under Nobel laureates and leading pioneering labs across the U.S. and Europe, Sam has built a career at the cutting edge of gene therapy. His story is one of resilience, curiosity, and a willingness to tackle “generational questions” that few others dare to pursue. Together, we explore: The evolution of gene therapy from early setbacks to transformative breakthroughs. Why packaging limits in AAV vectors matter—and how new adenoviral approaches may unlock treatments for large, complex genes. The urgent challenges in treating rare neurological conditions like Ataxia-Telangiectasia and CACNA1A-related disorders. The importance of integration between scientists, clinicians, and patient advocates to bring new therapies forward. Dr. Young reminds us that the real heroes are always the patients and families, and that the responsibility of science is to create the world not as it is, but as it should be. 🎧 Tune in for an inspiring conversation about science, persistence, and hope for the rare disease community. For additional information on Sam Young, please visit - https://www.med.unc.edu/pediatrics/people/samuel-m-young-jr-phd/ To learn more about the CACNA1A Foundation, please visit - https://www.cacna1a.org/
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    50 分
  • EP 23 Kristin Baranano

    EP 23 Kristin Baranano
    2025/08/02
    Understanding CACNA1A: A Conversation with Dr. Kristin Baranano Episode Description: In this powerful episode of Rare Awareness Radio, host Richard Juknavorian sits down with Dr. Kristin Baranano, a pediatric neurologist and neurogeneticist at Johns Hopkins University, to explore CACNA1A-related disorders—rare neurological conditions that affect children and adults across a complex spectrum of symptoms including ataxia, epilepsy, developmental delays, and more. Dr. Baranano shares her clinical journey, from her early research in developmental neuroscience to her current work treating and supporting families facing these challenging diagnoses. Together, they discuss: What CACNA1A is and how it functions in the brain The diagnostic process and why it’s often a long and emotional journey The role of genetic counseling and family history Current management strategies and the importance of multidisciplinary care Emerging research and the future of precision medicine in neurology Trusted resources and support networks for families, including the CACNA1A Foundation This episode is a must-listen for caregivers, clinicians, researchers, and advocates committed to improving care and raising awareness for rare neurological disorders. 🔗 Learn more: https://www.cacna1a.org/ 📬 Subscribe to Rare Awareness Radio for more conversations with experts and changemakers in rare disease. #CACNA1A #Neurogenetics #RareDiseaseAwareness #PediatricNeurology #PrecisionMedicine #GeneticDisorders #RareAwarenessRadio
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    25 分
  • EP 22 Janet Vasquez

    EP 22 Janet Vasquez
    2025/07/26
    Janet Vasquez on FAM177A1, Resilience, and Finding Strength Through Motherhood Description: In this heartfelt episode of Rare Awareness Radio, we sit down with Janet Vasquez, a devoted mother of two daughters diagnosed with FAM177A1, a rare neurodevelopmental disorder. Janet opens up about her family's journey—from the early signs and missed diagnoses to navigating daily life, advocacy, and the emotional toll of feeling isolated. She shares powerful insights on the importance of trusting your instincts as a parent, fighting for answers, and finding community through rare disease networks. We talk about raising awareness, embracing small victories, and the deeply personal hopes she carries for her daughters’ futures. Through stories of Halloween costumes, bedtime seizures, inaccessible beaches, and moments of pure joy, Janet reminds us that while the rare disease world is full of unknowns, it’s also full of love, courage, and an unbreakable will to keep going. 🔗 Learn more about the FAM177A1 Research Fund and how you can help at: https://www.fam177a1.org/ 📣 Share this episode to raise awareness and let families like Janet’s know they are not alone. #RareDisease #FAM177A1 #Motherhood #DisabilityAwareness #GeneticDisorder #SeizureAwareness #Parenting #RareAwarenessRadio
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    36 分
  • EP 21 Fikri Birey

    EP 21 Fikri Birey
    2025/07/20
    Pioneering Genetic Therapies for Rare Disorders | Dr. Fikri Birey | Rare Awareness Radio Description: In this powerful episode of Rare Awareness Radio, we sit down with Dr. Fikri Birey — neuroscientist, stem cell researcher, and Assistant Professor at Emory University — whose groundbreaking work is advancing the understanding and treatment of rare neurological disorders, including Timothy Syndrome and CACNA1A-related channelopathies. Dr. Birey shares his journey from Cyprus to Stanford to Emory, where he now leads a lab focused on the use of patient-derived 3D brain organoids to model disease at the cellular level. We explore how these human cellular models are helping scientists investigate the underlying mechanisms of rare disorders and test novel therapeutic approaches, including CRISPR and antisense oligonucleotides (ASOs). He also reflects on the critical role of patient advocacy groups like the CACNA1A Foundation, the urgency of translational research, and why collaboration across disciplines is essential to accelerating cures. Whether you're a patient, caregiver, scientist, or simply curious about the future of genetic medicine, this episode offers hope, insight, and inspiration. 🔬 Topics Covered: What are calcium channelopathies? 3D brain organoids and assembloids Timothy Syndrome and CACNA1A research Genetic therapeutics and personalized medicine Advice for rare disease families Role of advocacy groups in shaping research 📢 Don’t forget to like, share, and subscribe for more conversations that raise awareness, foster connection, and accelerate impact in the rare disease community. 🎧 Listen on all major podcast platforms.
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    33 分
  • EP 20 Deb Ondrasik

    EP 20 Deb Ondrasik
    2025/07/12
    Living on Both Sides of the Stethoscope — Dr. Deb Ondrasik on CACNA1A, Advocacy, and Hope In this episode of Rare Awareness Radio, we sit down with Dr. Deb Ondrasik—pediatrician, rare disease advocate, and mother to a daughter living with CACNA1A-related epileptic encephalopathy. Deb shares her extraordinary journey navigating life as both a healthcare provider and caregiver, and how her daughter’s diagnosis propelled her into advocacy. From the challenges of early developmental delays to the transformative power of genetic testing, Deb offers insight into the barriers families face—and how we can build a more responsive, compassionate system. She also discusses her work with the CACNA1A Foundation, the importance of building community, and the emotional toll—and resilience—of parenting a medically complex child. Whether you’re a clinician, parent, policymaker, or simply curious about the lived realities of rare disease families, this conversation is packed with heart, honesty, and hard-won wisdom. 🔗 Learn more about the CACNA1A Foundation: https://www.cacna1a.org 📬 Subscribe to their newsletter for updates and opportunities to get involved. 💬 Don’t forget to like, share, and subscribe to Rare Awareness Radio. Your support helps amplify voices that matter. #RareDisease #CACNA1A #RareAdvocacy #PediatricNeurology #GeneticTesting #DisabilityAdvocacy #RareAwarenessRadio #ParentingWithPurpose
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    40 分
  • EP 19 Nicole Legro

    EP 19 Nicole Legro
    2025/06/28
    A Voice for the Undiagnosed: Dr. Nikki Legro on FAM177A1, Genetic Advocacy, and Reimagining Maternal-Fetal Medicine - In this powerful episode of Rare Awareness Radio, we sit down with Dr. Nicole “Nikki” Legro—a physician, researcher, and rising leader in the rare disease space. Currently a third-year OB/GYN resident at Georgetown University, Nikki reflects on the long and winding path that led to her groundbreaking work helping to define the FAM177A1-related disorder through the NIH’s Undiagnosed Diseases Network and Stanford University. She shares her early inspirations, the challenges and triumphs of co-authoring a multi-year publication in Genetics in Medicine, and what it means to advocate for families navigating life with an undiagnosed or rare genetic condition. Nikki also discusses the future of maternal-fetal medicine, the growing role of AI in genetic diagnostics, and the deep human connections that drive her work forward. This episode is a must-listen for anyone passionate about the intersection of research, advocacy, and patient-centered care in the world of rare disease. Topics Include: The origin story of Nikki’s interest in rare genetic conditions Her work with the Hawkins family and the FAM177A1 research fund Challenges in publishing rare disease findings Evolving approaches to prenatal genetic screening The future of OB/GYN and gene therapy Building trust and trauma-informed care with patients and families 📣 Subscribe and share to support awareness, research, and advocacy for the rare disease community. #RareDiseaseAwareness #GeneticAdvocacy #WomenInMedicine #MaternalFetalMedicine #FAM177A1
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    37 分