Tomasz Grybek on patient involvement and making lived experience count in regulatory decisions

In this episode of Rare on Air, host Julien Poulain speaks with Tomasz Grybek, a Polish economist, rare disease advocate, and father to a teenage son living with metachromatic leukodystrophy (MLD), a progressive and life-limiting condition.Tomasz recounts the difficult path to accessing treatment for his son Borys, and how that experience led him into patient advocacy - first at the national level, and eventually as a patient representative on the Paediatric Committee of the European Medicines Agency.He reflects on why patient engagement must go beyond token consultation, and explains why voting rights in regulatory committees are critical for ensuring lived experience genuinely shapes scientific decisions. From navigating uncertainty as a parent to sitting at the EMA table, Tomasz offers a compelling perspective on what meaningful inclusion really looks like in practice.Contact the podcast by emailing ⁠[email protected]⁠ and join the conversation on social media using the hashtag #EurordisRareOnAir.

In this episode of Rare on Air, host Julien Poulain speaks with Nick Sireau, CEO of the AKU Society and father to two sons living with alkaptonuria. Nick shares how his son’s unexpected diagnosis led him to become a leading advocate for rare diseases and a pioneer in drug repurposing. Nick recounts how a molecule once destined to be a weedkiller became a treatment for AKU, and reflects on the broader promise and challenges of repurposing approved therapies for different rare conditions. Join the conversation using #EurordisRareOnAir or contact the podcast at [email protected].

In this Rare on Air Stories bonus episode marking Rare Disease Day, we share Noah’s journey from the United States.Diagnosed with Meesmann Corneal Dystrophy, a rare genetic eye condition, Noah endures chronic pain and vision challenges. Misdiagnosed and misunderstood for years, he faced immense physical pain and emotional battles, struggling to find medical professionals who understood his condition.Noah’s determination led him to an accurate diagnosis of Ocular Neuropathic Pain Syndrome. Now, he is an advocate for better awareness of invisible disabilities, and he hopes to bring about positive change for those with chronic eye pain.Visit rarediseaseday.org to share your story or get involved. Rare Disease Day is on 28 February 2025.

In this Rare on Air Stories bonus episode marking Rare Disease Day, we share the story of Eden from the UK.Diagnosed as a baby with CMTC (Cutis Marmorata Telangiectatica Congenita), Eden faced challenges with social stigma and self-acceptance due to her marbled skin markings. With her parents’ support and a shift in perspective, she embraced her uniqueness and found strength beyond her appearance. Today, she channels her creativity into filmmaking, using storytelling to inspire others and raise awareness for rare diseases. Eden’s journey is a testament to self-worth, resilience, and the power of embracing what makes us unique.To learn more about the CMTC condition and how Eden is using her passion for telling stories to raise awareness for rare diseases, visit: https://www.cmtc.nl/en/blog/2024/11/14/help-our-eden/Visit rarediseaseday.org to share your story or get involved with the campaign. Rare Disease Day is on 28 February 2025.

In this episode of our Rare on Air Stories bonus series marking Rare Disease Day, we meet Do Phuoc Huy from Vietnam, who has lived with an undiagnosed rare condition for 17 years. Initially misdiagnosed and misunderstood, his condition causes sudden collapses and long recoveries, creating immense physical and emotional challenges.Despite his condition, Huy’s determination led him to become a medical doctor and found theVietnamese Organisation for Rare Diseases. With the unwavering support of his mother and wife, he turned personal struggles into advocacy, offering hope and support to others living with rare diseases.Visitrarediseaseday.org to share your story or get involved with the campaign. Rare Disease Day is on 28 February 2025.

In this episode of our Rare on Air Stories bonus series marking Rare Disease Day, we share Sushmita’s powerful journey with Amelogenesis Imperfecta (AI), a rare genetic condition affecting the development of tooth enamel. Growing up, Sushmita faced social stigma, judgment, and painful dental treatments, but her father’s encouraging words helped her turn adversity into purpose.Today, Sushmita is an advocate for AI awareness, sharing her story through blogs and presentations at medical seminars. Her journey reminds us that kindness and understanding can make a lasting impact on the lives of those with rare conditions.Visitrarediseaseday.org to share your story or get involved. Rare Disease Day is on 28 February 2025.

In this Rare on Air Stories bonus episode marking Rare Disease Day, we share the story of Sophia, who lives with a rare RARB gene mutation. Due to the unavailability of genetic testing, her diagnosis was delayed until age seven, following years of uncertainty about her cerebral palsy and vision impairments. With the support of specialists, her family identified treatments that have helped improve her cognition and speech. Now in high school, Sophia’s journey has inspired A Cure for Sophia and Friends, a family-led initiative connecting others with RARB mutations and supporting research into this ultra-rare condition. Visit rarediseaseday.org to share your story or get involved. Rare Disease Day is on 28 February 2025.

In this episode of our bonus series marking Rare Disease Day, we share the inspiring story of Khim Bahadur. When Khim's son, Animesh, was diagnosed with Osteogenesis Imperfecta (OI), he encountered a daunting lack of resources and awareness in Nepal. Undeterred, Khim sought global support, securing life-changing treatment abroad for Animesh and becoming a trailblazer for OI advocacy in Nepal. Through education, media campaigns, and community building, Khim continues to drive rare disease awareness and inspire others across the nation. Visit ⁠rarediseaseday.org⁠ to share your story or get involved. Rare Disease Day is on 28 February 2025.

In this episode of our bonus series marking Rare Disease Day, we share Fatimah’s story, a journey marked by misdiagnosis, various treatments, and the mystery of Muscular Dystrophy. Despite her daily challenges, Fatimah remains positive and deeply grateful for her support system. Her strength shines through as she hopes for a brighter future for everyone living with Muscular Dystrophy. Visit ⁠rarediseaseday.org⁠ to share your story or get involved. Rare Disease Day is on 28 February 2025.

In this episode of Rare on Air, host Julien Poulain speaks with Julián Isla, a rare disease advocate, artificial intelligence expert, and father to a son with Dravet syndrome. Julián shares his journey from navigating the challenges of his son Sergio’s diagnosis to co-founding Foundation 29 - a non-profit harnessing the power of artificial intelligence to revolutionise rare disease care. He explains how AI tools like Foundation 29’s DxGPT are transforming diagnostics by delivering faster and more accurate results, offering a lifeline to clinicians and patients alike. Drawing on real-world examples, Julián reflects on some of the cultural resistance and regulatory challenges facing AI adoption, while presenting a compelling vision of a future where machine learning plays an ever greater and pivotal role in healthcare. This thought-provoking episode explores the intersection of advocacy, innovation, and technology, highlighting how advancements in AI are reshaping the rare disease landscape and providing renewed hope to families impacted by rare conditions worldwide. Join the conversation using #EurordisRareOnAir or contact the podcast at [email protected].