エピソード

  • EP 9 Sunitha Malepati

    EP 9 Sunitha Malepati
    2025/02/16
    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
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    39 分
  • EP 8 Yiwei She

    EP 8 Yiwei She
    2025/02/01
    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
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    31 分
  • EP 7 Zeke and Chanin Zaragoza

    EP 7 Zeke and Chanin Zaragoza
    2025/01/19
    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.
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    34 分
  • EP 6 Adam Clatworthy

    EP 6 Adam Clatworthy
    2025/01/05
    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/
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    47 分
  • EP 5 Kate Vinokurov

    EP 5 Kate Vinokurov
    2024/12/10
    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.
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    35 分
  • EP 4 Jill Hawkins

    EP 4 Jill Hawkins
    2024/12/02
    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/
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    33 分
  • EP 3 Carolina Sommer

    EP 3 Carolina Sommer
    2024/11/15
    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/
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    46 分
  • EP 2 Jeff Kramer

    EP 2 Jeff Kramer
    2024/11/03
    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/
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    33 分