Épisodes

  • EP 20 Deb Ondrasik

    EP 20 Deb Ondrasik
    Jul 12 2025
    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 min
  • EP 19 Nicole Legro

    EP 19 Nicole Legro
    Jun 28 2025
    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 min
  • EP 18 Clement Chow

    EP 18 Clement Chow
    Jun 3 2025
    In this episode of Rare Awareness Radio, host Richard Juknavorian speaks with Dr. Clement Chow, Associate Professor of Human Genetics at the University of Utah School of Medicine. Dr. Chow and his team are doing groundbreaking work in rare disease research using an unexpected but powerful model: the fruit fly. We dive into Clement’s recent drug repurposing screen focused on FAM177A1 deficiency, a rare neurodevelopmental disorder. Hear how his team screened over 1,500 FDA-approved drugs using a fly model exhibiting a lethal phenotype—an innovative, cost-effective approach that could fast-track treatments for rare disease communities. Clement shares how his lab collaborates closely with patient foundations like the FAM177A1 Research Fund, how symptom management can be a gateway to deeper understanding, and what the future holds for applying discoveries across genetically linked rare diseases. Whether you're a scientist, advocate, or rare disease family member, this episode offers hope, insight, and a look at the power of creative research partnerships. 🎧 Listen now and learn how a tiny fly could make a world of difference. Special thanks to Jill Hawkins and the FAM177A1 Research Fund for making this episode possible. Link to Jill's episode: https://on.soundcloud.com/Xj9lYExwMcDxLJRj9f #RareDisease #FAM177A1 #ClementChow #DrugRepurposing #FruitFlyResearch #TranslationalScience #RareAwarenessRadio
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    28 min
  • EP 17 Saquib Lakhani

    EP 17 Saquib Lakhani
    May 24 2025
    🔬 “From ICU to Genome: Dr. Saquib Lakhani on CRELD1, Early Detection & Rare Disease Advocacy” | Rare Awareness Radio 🎧 In this powerful episode of Rare Awareness Radio, we sit down with Dr. Saquib Lakhani, Director of the Early Detection Program at Cedars-Sinai Guerin Children’s and a leading pediatric critical care physician. Dr. Lakhani shares how a single ICU case launched a global collaboration that uncovered the link between CRELD1 and a new spectrum of rare genetic disorders involving seizures, developmental delay, and cardiac irregularities. We explore the diagnostic odyssey faced by families, the promise of genomic sequencing, the impact of early detection, and the inspiring role of patient communities like CRELD1 Warriors. 💡 Whether you're a researcher, clinician, advocate, or parent — this episode highlights how science, empathy, and global teamwork are transforming the future of rare disease care. 🧬 Topics covered: Understanding CRELD1 and its clinical implications The importance of early molecular diagnosis Collaborating across labs, hospitals, and continents Supporting families through the diagnostic journey The role of AI and emerging technologies in rare disease research 📍 Listen now and help us raise awareness — because every rare story deserves to be heard. #RareDisease #CRELD1 #Genomics #PediatricCare #EarlyDetection #RareAwarenessRadio #GeneticResearch #PatientAdvocacy #SaquibLakhani #CedarsSinai #PrecisionMedicine
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    33 min
  • 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 min
  • 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 min
  • 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 min
  • 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 h et 4 min