Rare on Air

In this episode of Rare on Air, Rhiannon Walls reads the story of Stephanie, whose daughter lives with LIG4 syndrome, a rare genetic condition that took years to identify. Stephanie reflects on the confusion and fear of repeated medical emergencies, the long period of misdiagnoses, and the difficult decision to seek specialist care abroad. Through it all, she speaks openly about the realities of b...

In this episode of Rare on Air, Rhiannon Walls reads the story of Ren, who lives with Congenital Panhypopituitarism, a condition where the pituitary gland fails to produce essential hormones from birth. Ren reflects on growing up with a body that couldn’t regulate growth, stress, or metabolism, and the lifelong treatments that shaped her childhood and adulthood. She speaks candidly about the medic...

In this episode of Rare on Air, Julien Poulain reads the story of Loago, from Botswana, who was diagnosed with Gaucher disease as a teenager. Loago reflects on the challenges that followed his diagnosis, from leaving school due to worsening symptoms, to navigating limited access to treatment, to rebuilding his life after personal loss. Over time, with support from Botswana’s rare disease community...

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 o...

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...

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...

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 seizu...

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...

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, Annarit...

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...

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...

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 r...

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...

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 leve...

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 bro...

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 condit...

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...

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 medi...

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 a...

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...

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....

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 ⁠rared...

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 expla...

Rare diseases don’t just impact individuals; they also shape the lives of families and loved ones. In this episode of our bonus podcast series marking Rare Disease Day, we share Emma’s story about raising Nellie, her daughter who remains undiagnosed. From emotional challenges to everyday realities, it’s a moving story of resilience, love, and acceptance. Visit ⁠rarediseaseday.org⁠ to share your st...

This episode of our bonus podcast series marking Rare Disease Day features the story of David, who is living with Stiff Person Syndrome. It explores David’s experience of having no definitive diagnosis – the feelings of uncertainty, frustration and depression this comes with as well as the physical effects of a rare disease. However, David’s story inspires a message of perseverance and hope that h...