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Rare Awareness Radio

Rare Awareness Radio

Auteur(s): 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 Économie
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  • EP 31 Kristin Anderson

    EP 31 Kristin Anderson
    Nov 30 2025
    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/
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    40 min
  • EP 30 Iazsmin Ventura

    EP 30 Iazsmin Ventura
    Nov 16 2025
    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
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    39 min
  • EP 29 Holly Jones

    EP 29 Holly Jones
    Oct 26 2025
    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/
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    55 min
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