ERNs on Air: Practical tools for patient partnership in the ERNs

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.

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.