Rare Awareness Radio

🔬 “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 collaborat...

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 im...

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 ch...

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 s...

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 beg...

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...

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...

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...

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...

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 precisi...

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 Uni...

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 ra...

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 challe...

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...

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...

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...

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 ow...