Rare Awareness Radio

What if the biggest breakthroughs in rare disease aren’t just new treatments… but better data, stronger collaboration, and listening to patients? In this powerful episode, we sit down with Dr. Beth Potter, a leading researcher at the University of Ottawa, to uncover the hidden engine driving rare disease progress: registries, research, and real-world evidence. From the early days of newborn screening to today’s rapidly evolving treatment landscape, Dr. Potter takes us inside the fight to better understand conditions like PKU (Phenylketonuria)—and why we’re still far from “solving” them. In this episode, we explore: Why rare disease registries could change everything The truth about living with PKU beyond childhood How patient voices are reshaping research priorities The barriers no one talks about (data, privacy, fragmented systems) Why collaboration—not competition—is the future of rare disease innovation The takeaway? Breakthroughs don’t happen in silos. They happen when researchers, patients, and communities come together—globally. This episode is part of our ongoing series with CanPKU+ and the INFORM RARE Research Network, spotlighting the people pushing rare disease research forward. 🎧 Whether you're in healthcare, research, policy—or part of the rare disease community—this conversation will change how you think about progress. 👉 Listen now. Share widely. Be part of the movement. For more on CanPKU+, visit - https://canpku.org/ For more on INFORM RARE, please visit - https://www.informrare.ca/ #RareDisease #PKU #HealthcareInnovation #PublicHealth #PatientVoice #ResearchMatters #RareAwarenessRadio

How can rare disease research become more human, more effective, and more accountable to the people it’s meant to serve? In this powerful episode of Rare Awareness Radio, host Richard Juknavorian speaks with Maureen Smith, a lifelong rare disease advocate whose journey began as a child participant in clinical trials and evolved into decades of leadership in patient-partnered research. From her own lived experience with an ultra-rare condition to her national work advancing research collaboration, Maureen offers a compelling vision for the future of rare disease innovation. Together, Richard and Maureen explore why patients must be more than research subjects—they must be true partners in study design, governance, clinical trials, and outcome measurement. Maureen shares lessons from her work with CANPKU+, including the development of registries, core outcome sets, youth engagement initiatives, and strategies to reduce power imbalances between institutions and families. This conversation also tackles urgent questions about funding, tokenism, transparency, and how research priorities should be driven by real, unmet needs—not by academic curiosity alone. Maureen’s insights are practical, passionate, and deeply earned. If you care about patient-centered healthcare, rare disease advocacy, clinical research reform, or the power of lived experience, this is an episode you won’t want to miss. More on CANPKU+: https://canpku.org/ More on Rare Awareness Radio: https://rareawarenessradio.org/ #RareAwarenessRadio #RareDisease #PatientAdvocacy #ClinicalResearch #RareDiseaseResearch #PatientEngagement #PKU #CANPKU #HealthcareInnovation #ResearchPartnerships

For eight years, Melanie Colter searched for answers. Her son Mason was living with Homocystinuria (HCU)—a rare metabolic disorder that often goes undetected—but no one knew it yet. There were no obvious warning signs, no dramatic turning points. Just a quiet, invisible risk beneath what appeared to be a normal childhood. Until a routine eye appointment changed everything. In this episode of Rare Awareness Radio, we sit down with Melanie to explore the emotional and medical journey of delayed diagnosis—the uncertainty, the frustration, and the resilience required to keep pushing for answers when the system falls short. She shares what it means to parent a child with HCU, where something as fundamental as protein intake must be carefully managed, and how families learn to navigate a life that balances vigilance with normalcy. But this conversation goes beyond diagnosis. It’s about transformation—from uncertainty to empowerment. From searching for answers to becoming an advocate. Melanie opens up about how she’s using her voice and experience to support other families facing similar challenges, ensuring that fewer children go undiagnosed and unsupported. This is a powerful story of persistence, perspective, and purpose. 🎧 Listen, learn, and share to help raise awareness for rare diseases like HCU. 👉 To learn more, access resources, and support the PKU and HCU community, visit CanPKU+: https://canpku.org/ For more information on Rare Awareness Radio, please visit https://rareawarenessradio.org/ and https://resonancefound.org/ #RareAwarenessRadio #RareDisease #HCU #Homocystinuria #PatientAdvocacy #CaregiverStories #RareDiseaseAwareness

What happens when a routine newborn screening call changes your life forever? In this episode of Rare Awareness Radio, host Richard Juknavorian speaks with two powerful advocates in the PKU community — Nicole Pallone and Tanya Chute Nagy from CanPKU+. Both Nicole and Tanya are parents of children living with Phenylketonuria (PKU) — a rare genetic metabolic disorder that requires lifelong dietary management and constant vigilance. What began as a deeply personal journey for their families has grown into a mission to support thousands of others navigating the same path. Nicole serves as Chair of the Board, and Tanya serves as CEO and President of CanPKU+, a national organization dedicated to education, advocacy, research awareness, and community support for individuals and families affected by PKU and allied disorders. In this powerful conversation, we explore: • The moment parents receive the PKU diagnosis • What daily life managing PKU really looks like • The emotional journey families experience after diagnosis • Why community support is critical in rare diseases • The advocacy work happening across Canada • How parents transform into leaders and change-makers Rare diseases can often feel isolating — but stories like these remind us that community, advocacy, and shared knowledge can change everything. CALL TO ACTION If you want to learn more about PKU, support families living with the condition, or get involved in advocacy efforts, please visit: https://canpku.org You’ll find resources, programs, and ways to support the incredible work being done for the PKU community. About Rare Awareness Radio Rare Awareness Radio brings together patients, families, researchers, clinicians, and advocates working to advance awareness, understanding, and progress across the rare disease community. Each episode shares real stories and real voices from those living and leading in the rare disease space. Please visit - https://rareawarenessradio.org/ If you found this conversation meaningful: • Like the video • Subscribe to the channel • Share this episode with someone who cares about rare disease awareness Every share helps amplify these important voices. #RareDisease #PKU #Phenylketonuria #RareDiseaseAwareness #MetabolicDisorders #PKUCommunity #PatientAdvocacy #RareAwarenessRadio

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

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/

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/

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/

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.

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/

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/

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

Faith, Family, and the Three E’s: Holly Jones and the Power of Representation in the Myositis Community Description: In this powerful episode of Rare Awareness Radio, host Richard Juknavorian sits down with Holly Jones — advocate, mother, and leader with The Myositis Association. Diagnosed with polymyositis at just 19 years old, Holly’s journey has been defined by faith, resilience, and an unwavering commitment to others. Today, she leads multiple initiatives across TMA — including the Women of Color Affinity Group, the Myositis Africa Support Group, and the Chair of the Development Board. Her signature 3E Framework — Encouragement, Education, and Empowerment — has become a model for support and inclusion across the rare disease community. Together, Richard and Holly discuss: - Finding hope and faith through chronic illness - How representation and cultural sensitivity strengthen rare disease advocacy - Building community through the 3E Framework - Supporting teens, young adults, and mothers living with myositis - The importance of equity, empathy, and visibility in rare disease leadership This heartfelt conversation reminds us that purpose can rise from pain — and that through connection, education, and encouragement, we can all help one another thrive. 🎧 Listen now and discover why Holly Jones embodies the true spirit of Rare Awareness. For more information, please visit https://www.myositis.org/

Dr. Namita Goyal — Diagnosing Hope: Advances in Myositis and Neuromuscular Care Description: In this episode of Rare Awareness Radio, host Richard Juknavorian sits down with Dr. Namita Goyal, Professor of Neurology and Director of Neuromuscular Medicine at UCI Health, to explore how advances in science and collaboration are reshaping the landscape for people living with myositis and related neuromuscular diseases. Dr. Goyal reflects on the case that sparked her two-decade passion for myositis care and research, explaining why early recognition, antibody testing, and a multidisciplinary approach are essential for improving outcomes. She also discusses: The five main subtypes of myositis and how they differ The ongoing “diagnostic odyssey” faced by many patients Evolving standards of diagnosis and treatment The promise of new clinical trials, IVIG therapy, and steroid-sparing strategies The critical role of physical therapy, respiratory care, and social support Her work with The Myositis Association (TMA) and its growing network of patient resources Through clinical insight and compassion, Dr. Goyal highlights why awareness, advocacy, and access remain at the heart of progress in rare disease care. 🌐 Learn more and connect with The Myositis Association at myositis.org 🎧 Rare Awareness Radio shares stories and expert perspectives that illuminate the realities — and the hope — of living with rare conditions.

Episode Title: Navigating Myositis: Jen Swisher on Diagnosis, Advocacy, and Resilience 📝 Episode Description: In this deeply moving episode of Rare Awareness Radio, host Richard Juknavorian sits down with Jen Swisher, a physician assistant, professor, mom of three, and dermatomyositis patient living with the TIF1-gamma autoantibody. Jen shares her extraordinary journey through years of misdiagnoses, delayed care, and debilitating symptoms—culminating in a diagnosis that changed her life. From her early medical career in emergency medicine and pharma, to becoming a full-time working mother navigating a rare autoimmune condition, Jen reflects on how her personal and professional worlds collided. Together, Richard and Jen discuss: What dermatomyositis is, and how it’s often overlooked The realities of IVIG, Rituxan, and immunosuppressive therapy The emotional toll of parenting with chronic illness Challenges within our healthcare system—especially for rare disease patients Her growing advocacy work with the Myositis Association (TMA) And why support networks for young, working patients are urgently needed This episode is about more than just a disease—it's about strength, empathy, and pushing for change in how we care for those with rare conditions. Whether you're a patient, caregiver, healthcare professional, or advocate, Jen’s story will move and inspire you. 🔗 Resources & Links: The Myositis Association: www.myositis.org Rare Awareness Radio: www.rareawarenessradio.org 💬 Join the conversation by using #RareAwarenessRadio and tagging us on social! 🎙️ Subscribe, rate, and share to help amplify voices in the rare disease community.

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

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

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/

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

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

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.

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

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

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

🔬 “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

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.

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

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

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

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

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

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

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

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

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.

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/

Kate Vinokurov is the founder of Cure OTCD, a nonprofit organization dedicated to finding a cure for ornithine transcarbamylase deficiency (OTCD), a rare urea cycle disorder. Kate’s journey began when her son, Etan, was diagnosed with this life-altering condition shortly after birth. Determined to improve his quality of life and that of others affected by OTCD, Kate transformed her personal challenges into a mission to drive change. Through Cure OTCD, Kate focuses on advancing critical research, raising awareness, and fostering patient advocacy. The organization collaborates with leading scientists, healthcare providers, and research institutions worldwide to accelerate the development of therapeutic solutions. Kate’s advocacy extends beyond her nonprofit, sharing her story and connecting with the rare disease community through her platform SaveEtan.com, where supporters can learn more, donate, and stay updated on the latest advancements in the fight against OTCD. Driven by hope and a deep love for her son, Kate continues to inspire others with her relentless pursuit of a brighter future for families impacted by rare diseases. Visit SaveEtan.com to learn how you can support this vital cause.

FAM177A1 Research Fund is a nonprofit organization that Jill founded to support the FAM177A1 community and accelerate the development of treatments for FAM177A1 Disorder, a rare genetic disease that affects her two children, Charlotte and Cooper. As the founder and president, Jill oversees the fund's operations, fundraising, and partnerships, working with researchers, clinicians, biotech companies, and other rare disease stakeholders. She also shares her family's journey and raises awareness about FAM177A1 Disorder through various podcasts, panels, and publications. Jill has a strong background in psychology, with a bachelor's degree from the University of North Carolina at Chapel Hill and a master of education from the University of Washington. She worked as a school psychologist for several years before dedicating her time to the care of her children and the FAM177A1 Fund. Jill is passionate about improving the lives of all rare disease patients and families. She is a proud Buffalo, NY native who lives in the Pacific Northwest with her husband Doug and their three children. For more information, please visit https://www.curefam.org/

Carolina Sommer is the CEO and founder of the Born A Hero Research Foundation and co-founder of the Northwest Rare Disease Coalition. A dedicated advocate, author, and lobbyist, Carolina’s journey in the rare disease community began with her daughter’s diagnosis of Pfeiffer syndrome. She has since become a leading voice for rare disease awareness, passionately working to support families and drive forward meaningful change through community-focused initiatives, patient-led research, and policy advocacy. For additional information, please visit https://bornahero.org/

Jeffrey T. Kramer, M.S. created the Chondrosarcoma Foundation to honor his daughter Shayna Kramer’s legacy. He combines his 24 years of experience in the substance abuse counseling, communication, and marketing with his experience in broadcasting to produce film and videos. In addition, for the past 24 years, Jeffrey has been a certified Emergency Medical Technician and a Volunteer Firefighter for the Prince George’s County Fire Department. Since October, 2000; Mr. Kramer operates his own multimedia production company called Kramer Communications. For more information, please visit https://csfshayna.org/

Mike Michaelis is the founder and president of The OMSLife Foundation. His passion for OMAS began in 2009 when his oldest granddaughter, Alexa, was diagnosed with OMAS. Since then, his focus has been to build a worldwide support network for patients and caregivers, raise awareness of OMAS, and raise funds for research. Mike is a retired IT executive for a Fortune 500 company, and he started his own company in business process and project management. Mike’s credentials also include the development of the OMS Patient Reported Natural History Study. This collection of fifteen surveys was funded via a grant from NORD and the FDA. At present, they have over 380 contributors to the registry. However, Mike’s passion continues to connect patients with the best care providers available. He has been fortunate to meet over 200 OMAS patients and their families, dozens of OMAS specialists and researchers worldwide. For more information, please visit https://omslifefoundation.org/