Rare Disease Day: Ken's story

In this episode of Rare on Air, Rhiannon Walls reads the story of Hong-Ahh, whose son Léon lives with LAMA2-related congenital muscular dystrophy, a rare and progressive neuromuscular condition.Hong-Ahh shares her early search for answers, the uncertainty that followed the diagnosis, and the ongoing efforts to support Léon through physiotherapy and respiratory care. She speaks to the challenges of navigating a condition with limited research and little public awareness, and the determination required to keep looking for possibilities beyond what the medical system currently offers.This episode offers a parent’s perspective on living with a progressive rare disease, the practical realities, the constant learning, and the quiet persistence behind each step forward.

In this episode of Rare on Air, Rhiannon Walls reads the story of Jessa, an 18-year-old living with multiple rare conditions, including Ehlers-Danlos Syndrome, Mixed Connective Tissue Disease, and juvenile arthritis.Jessa shares what it has meant to grow up with symptoms that were often dismissed, the long path to getting the right diagnoses, and the realities of managing complex conditions that overlap and collide. Despite the challenges, she has pushed forward — finishing high school early, beginning university studies, and shaping her future with determination and clarity.Her story offers a thoughtful look at navigating adolescence, identity, and ambition while living with chronic illness, and the importance of speaking up so others know they’re not alone.

In this episode of Rare on Air, Julien Poulain reads the story of Ken, whose life has been deeply shaped by Huntington’s disease, as a full-time carer for his mother with the condition and as someone living with a 50% genetic risk himself.Ken reflects on the demands of caregiving, the emotional toll of watching a parent lose their abilities, and the uncertainty that comes with inheriting risk. He shares how he learned to navigate fear, find support, and rebuild hope during moments when it felt out of reach.His story offers a clear, grounded look at family, responsibility, and the resilience that grows quietly over years of caregiving, inviting listeners to understand what it means to live alongside a rare, progressive condition.

In this episode of Rare on Air, host Julien Poulain speaks with Małgorzata 'Gosia' Kosla, a rare disease advocate and mother of twins, Lena and Zuzia. Gosia’s journey into advocacy began in February 2022, when Lena was diagnosed with an ultra-rare neurodevelopmental condition caused by a mutation in the PACS2 gene.Gosia reflects on the initial shock of diagnosis, the sudden onset of seizures, and her family's realisation at the time that almost no research or structured support existed for families impacted by PACS2. Drawing on her and her husband Piotr’s professional backgrounds, she explains how they decided to found the PACS2 Research Foundation just months later, determined to drive research forward themselves.Over the past three years, Gosia and her family have helped build a global, patient-led research effort spanning drug screening, RNA-based approaches, and preparations for an international natural-history study, working with research teams in Europe and the United States. She shares the personal sacrifices behind the foundation, the role of the #misjaLEK fundraising campaign, and what gives her hope as new therapeutic approaches begin to emerge.Gosia also offers a candid perspective on patient-led research in Europe, reflecting on barriers to funding, the value of initiatives such as the EURORDIS Open Academy, and why stronger cooperation across countries and institutions is essential for families living with ultra-rare diseases.Join the conversation using #EurordisRareOnAir or contact the podcast at [email protected].

In this episode of Rare on Air, Rhiannon Walls reads the story of Christine, who lives with Granulomatosis with polyangiitis (GPA), a rare and serious autoimmune condition.Diagnosed at just 24 after a sudden and life-threatening health crisis, Christine reflects on the fourteen years that followed, years marked by recovery, resilience, and a growing commitment to advocacy. She speaks openly about navigating an unpredictable disease, rebuilding her life day by day, and finding strength in community, even when that community is small.Christine’s story is one of honesty, determination, and quiet hope. It reminds us that even when the path is difficult, each day can offer something meaningful and that living with a rare disease is still living.

In this episode of Rare on Air, Rhiannon Walls reads the story of Annarita, from Italy, who lives with Charcot-Marie-Tooth disease type 2Z. Diagnosed in her late teens after years of uncertainty, she reflects on the shift from fear and resignation toward acceptance and the unexpected route that brought her back to the thing she loves most: dance.Through perseverance and adaptive movement, Annarita found new ways to build strength, regain confidence, and reconnect with a passion she once thought she had lost. Her story offers a thoughtful look at adaptation, determination, and the small steps that shape a return to joy.

In this episode of our bonus Rare on Air Stories series, Julien Poulain reads the story of Ahmed, a Pakistani professional and advocate whose long path to a diagnosis of Primary Ciliary Dyskinesia (PCD) reshaped his life and perspective.After decades of unexplained respiratory problems and repeated misdiagnoses, Ahmed finally received clarity at age 34. He reflects on the relief of understanding his condition, the challenges of navigating a little-known rare disease, and the resilience built along the way.Now living in Europe and drawing on his experiences across multiple regions, Ahmed channels his journey into advocacy, encouraging awareness, community support, and earlier diagnosis for others living with PCD.

In this episode of ERNs on Air, Ines Hernando (ERN & Healthcare Director, EURORDIS) is joined by Olivia Spivack (ERN Implementation Coordinator at ERN ERNICA, and researcher) and Mirthe Klein Haneveld (Researcher, ERN ITHACA) to discuss the Patient Partnership Framework for European Reference Networks. They explain why the framework was developed, its core elements and enablers, and practical tools to capture patient voices. The conversation also addresses practical challenges – such as ensuring diversity and setting up support structures for ePAG representatives.Explore the Patient Partnership Framework for ERNs:https://www.eurordis.org/publications/patient-partnership-framework-for-erns/Read the scoping review co-authored by Mirthe Klein Haneveld and Olivia Spivack:https://pubmed.ncbi.nlm.nih.gov/39708237/

In this episode of Rare on Air, host Julien Poulain speaks with Inês Alves, a Portuguese advocate, researcher, and mother whose journey into rare disease advocacy began with her daughter Clara’s diagnosis of achondroplasia, a rare bone condition impacting skeletal growth.Inês recalls the shock of hearing the word 'achondroplasia' for the first time, the early uncertainty of navigating a rare diagnosis with little guidance, and how that experience led her to create Beyond Achondroplasia — a multilingual information hub now supporting families worldwide. She explains how this effort evolved into founding ANDO Portugal, which celebrates its tenth anniversary this year, and how patient networks have transformed understanding of skeletal dysplasias in Europe.As a patient representative in ERN BOND and member of the European Medicines Agency’s Committee for Orphan Medicinal Products, Inês offers a rare insider view of how lived experience helps shape research and regulation. She reflects on the progress made toward genuine patient involvement, the risks posed by efforts to reduce patient representation in EMA committees, and why collaboration, evidence, and empathy remain essential for rare disease progress.Join the conversation using #EurordisRareOnAir or contact the podcast at [email protected].

In this episode of our bonus podcast series, ERNs on Air, host Julien Poulain hands over to Nora Lazaro (EURORDIS ERN and Healthcare Patient Engagement Manager) for a conversation with Johan de Graaf (patient representative and co-chair of the ENDO-ERN ePAG) and Emily White (project manager for the ENDO-ERN coordination team).Together, Nora, Johan and Emily explore a patient-led initiative to map inequities in endocrine medicine provision across Europe, using data gathered through three surveys. Recognised as one of the winners of the EURORDIS 2025 Patient Partnership Good Practice Challenge, this project highlights both the persistent gaps in access to essential treatments and the power of collaboration between patients, clinicians and project managers to bring about systemic change.