Rare on Air

In the final ERNs on Air episode of 2024, Ines Hernando (ERN and Healthcare Director) is joined by Dorica Dan (President of the Romanian Rare Disease National Alliance and patient lead in ERN ITHACA) and Cesar Hernandez Garcia (Director General at the Spanish Ministry of Health) to discuss the JARDIN project, which aims to integrate European Reference Networks (ERNs) into national healthcare syste...

To mark the start of November's 100-day countdown to Rare Disease Day 2025, the global awareness day taking place on 28 February 2025, host Julien Poulain ventures beyond Europe to speak with Kelly du Plessis, Chief Executive Officer and Founder of Rare Diseases South Africa, and mother to a teenage son living with Pompe disease. Kelly shares with Julien her extraordinary journey, from her son’s d...

This episode of our bonus series marking Rare Disease Day features Dani who lives with progressive fibrodysplasia ossificans (PFO). You will hear about her journey from the moment she was born to when she was 16 years old and found a lump on her back. Dani explores the problem of misdiagnosis and her journey with FOP. Join Dani as she tells a story of frustration, overwhelming change and finally a...

In this episode of EURORDIS Rare on Air, host Julien Poulain speaks with Dr. Miriam Wilms, a visceral surgeon, proctologist, and mother whose son was born with a rare anorectal malformation. Miriam shares the early challenges her family faced within Germany’s decentralised healthcare system, from securing specialised surgeries for her son to coordinating his long-term care needs. As an advocate wi...

In this episode of EURORDIS Rare on Air, host Julien Poulain speaks with Zainab Alani, a medical student at the University of Glasgow and an advocate for rare disease patients. Zainab shares her personal journey with myasthenia gravis, a rare autoimmune disorder that began affecting her at the age of 15. Despite her mother, a general practitioner, recognising the early signs, Zainab faced sceptici...

In this episode of our quarterly bonus series, Host Julien Poulain hands over to his colleague Nora Lazaro (EURORDIS ERN and Healthcare Patient Engagement Manager) for a discussion with Lori Renna Linton (Patient Representative in ERN RND ePAG) and Sophie Ripp (Project manager in ERN RND) on the value of patient journeys. Patient journeys are healthcare service improvement tools that capture the u...

In this episode of Rare on Air, host Julien Poulain speaks with Jane Velkovski, a passionate young advocate for people with spinal muscular atrophy (SMA) and other disabilities. Jane shares his journey from a young child facing accessibility challenges to becoming a powerful voice for change on an international stage. He discusses his early memories, the role of football in his life, and his visio...

In this episode of Rare on Air, host Julien Poulain interviews Marina Zapparoli-Manzoni, President of Euro-HSP and Treasurer of AIVI.PS , organisations dedicated to supporting those affected by Hereditary Spastic Paraplegia (HSP). Marina shares her family's journey with HSP, discussing the emotional challenges they faced in securing a diagnosis for her son, Edoardo. She highlights the importan...

In this quarterly bonus episode of Rare on Air, Julien Poulain hands over to Ines Hernando, EURORDIS ERN and Healthcare Director. Ines speaks with Anna Arellanesová (Chair of  Rare Diseases Czech Republic ) and Ladislav Švec (Director of the  Czech National Contact Point for Cross-Border Healthcare ). Together, they discuss the intricacies of cross-border healthcare in the EU, focusing on simplify...

In this episode of Rare on Air, host Julien Poulain explores the latest findings from EURORDIS Rare Barometer’s extensive survey on the diagnostic journeys of over 10,000 people across Europe, either living with a rare disease or as a close relative of someone who does. Julien first speaks to Ayça Şahin, a PhD student in neuroscience living in Turkey with Spinal Muscular Atrophy (SMA), who shares...

In this episode of Rare on Air, host Julien Poulain chats with Nicole Faccio, the recipient of the 2023 EURORDIS Social Media Award. Known on social media as Facciolita , Nicole has built a significant following, with over 30,000 followers on Instagram⁠ and more than 100,000 on TikTok⁠ . She discusses with Julien her evolving experiences and perspectives on living with lymphedema, and how she star...

In this episode of Rare on Air, Julien Poulain welcomes Virginie Duigou, President of Neuro IFF France ( https://neuroifffrance.my.canva.site/ ). Virginie leads a patient association forged only one year ago from the experiences of families and individuals profoundly affected by Fatal Familial Insomnia (FFI), an ultra-rare disease with a global prevalence of less than one in a million. Throughout...

In the 4th episode of ERNs on Air, EURORDIS ERN and Healthcare Patient Engagement Manager, Nora Lazaro, talks to Emma Kinloch, ePAG advocate at EURACAN ERN, and Annalisa Trama, epidemiologist and registry coordinator in EURACAN ERN, about how the patient representatives from EURACAN contributed to the set up and develop of a patient registry for adult rare cancers. They discuss what registries are...

Listen to our final episode of Rare On Air Stories this year, featuring Leif and his journey with GNE Myopathy. From seeking answers online to receiving a diagnosis in Switzerland, Leif shares his experiences with resilience and adaptation in navigating life with a rare condition.

In this episode of Rare on Air, we mark Rare Disease Day 2024! Observed globally on 29 February, this day unites people, organisations, and communities worldwide to raise awareness for the 300 million individuals battling rare diseases. Host Julien Poulain leads a conversation with three pivotal figures in rare disease advocacy about how Rare Disease Day is striving to foster global solidarity and...

In our 8th episode, we hear about Natalia, from Bulgaria, sharing her 14-year journey with Pulmonary Hypertension. She's faced challenges with grace. From diagnosis to founding the Bulgarian Society of Patients with Pulmonary Hypertension, Natalia's story reflects courage and community. 

Episode 7 of Rare on Air Stories is here! Meet Jay, an individual living with Congenital Central Hypoventilation Syndrome (CCHS), a rare invisible disability diagnosed since birth. In this episode, Jay pursues his passions despite the challenges posed by CCHS. Hear how he advocates for disability rights, spreads awareness, and embraces life's joys. 

Meet Katie in our 6th episode of Rare on Air stories, diagnosed with CMTC at just 5 months old, she gracefully navigates life's challenges, embracing her rarity with pride. From temperature-induced swelling to laser surgeries, Katie shares her journey with courage. School, sports, and passions—nothing held her back. Now 30, she advocates for herself and others.

Join us on our 5th Rare On Air Stories for an incredible journey with Dan, a US Navy veteran and a 10-year hereditary colon cancer warrior. Facing a rare gene mutation impacting less than 0.03% of the global population, Dan shares his resilient spirit and positive mindset throughout his battle. From a life-saving total-proctocolectomy surgery to meeting Dr. Henry T. Lynch, the pioneer of hereditar...

In this episode of Rare on Air, host Julien Poulain revisits the crucial subject of mental health and wellbeing in the rare disease community. He engages with the Presidents of two EURORDIS member organisations, who share their hands-on initiatives in providing psychological support. José Ángel Aibar, President of the Spanish Dravet Foundation ( Fundación Síndrome de Dravet ), reflects on his fami...

In our fourth episode we explore Deeann's unique journey, living with Nail Patella Syndrome, Idiopathic Intracranial Hypertension, Nervus Intermedius Neuralgia, Glossopharyngeal Neuralgia, and Trigeminal Neuralgia, alongside other rare conditions. As Deeann approaches the completion of her 5th university degree, she advocates for inclusion and diversity within the disability sector. 🌍 Traveling t...

In our third episode, we explore the inspiring journey of Bor, living with chromsome 8p deletion. Affectionately known as Borči, he's the heart of his family, radiating love and joy. We will also delve into his world – from his love for farm visits and cherished moments with his older brother to his passion for cartoons and fairy tales.

In our second episode, we learn about Becky from the UK, a proud parent navigating life with Koolen-de Vries syndrome alongside her two youngest children, Isabella and Joshua. We also share her journey, from receiving a joint diagnosis to embracing authenticity and becoming an advocate.

In our first episode, we read about Amber’s highs of her adventures in Bali, the ways of dealing with stares and comments, and the wisdom she's gained from her unique journey. She'll also give us a glimpse into her daily routine!

In this episode of Rare on Air, host Julien Poulain delves back into the world of gene therapies, chatting with Khadidja Hadri, a French mother whose nine-year-old son grapples with the rare genetic disorder ADA-SCID, and Stefano Benvenuti, Public Affairs Manager at the Fondazione Telethon in Italy. Khadidja candidly shares how a groundbreaking gene therapy transformed her son’s health, significan...