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Rare Awareness Radio

Rare Awareness Radio

De: Rare Awareness Radio
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Shedding light on underrepresented diseases and the efforts of non-profit foundations working tirelessly to support those affected.All rights reserved Economía
Episodios
  • EP 36 Jordan Kruse

    EP 36 Jordan Kruse
    Feb 15 2026
    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/
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    30 m
  • EP 35 Bruce Morimoto

    EP 35 Bruce Morimoto
    Feb 1 2026
    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/
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    35 m
  • EP 34 Beth McKenzie and Dave Robertson

    EP 34 Beth McKenzie and Dave Robertson
    Jan 17 2026
    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/
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    39 m
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