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 RareOnAir@eurordis.org.