A EURORDIS-Rare Diseases Europe podcast on the experiences, challenges and successes of people living with rare diseases. Julien Poulain, Communications Manager at EURORDIS, meets with people who share their unique experiences of living with a rare disease, those who advocate for them, and experts on rare disease policy. Email the EURORDIS Rare on Air team at: [email protected].
4:41Meet 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.
5:32oin 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 hereditary colon cancer research, Dan's story is one of faith, adaptation, and purpose.
Mental wellbeing: Hands-on support for the community
28:42In 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 family's struggle with Dravet Syndrome, a severe form of epilepsy. He details how this personal experience inspired the Foundation's targeted psychological support for those affected by the condition. Claas Röhl, President of NF Kinder in Austria, then shares his daughter's journey with Neurofibromatosis Type 1, explaining how it shaped their organisation's psychosocial support programmes. Despite the distinct challenges faced by families in Spain and Austria, the conversation with José and Claas reveals common mental health struggles in rare disease communities and highlights the vital role these groups play. The episode also is released ahead of the European Conference on Rare Diseases and Orphan Products (ECRD) 2024, which will feature a session focused on improving mental health in the rare disease community. The conference, held online and in Brussels on 15-16 May 2024, invites registrations at https://www.rare-diseases.eu/.
4:52In 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 through 29 countries, facing extended hospital stays, and managing persistent pain, Deeann's story reflects resilience in the context of these rare diseases.
4:20In 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.
5:47In 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.
Gene therapies: Promoting development and expanding access
28:35In 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, significantly altering the trajectory of their lives. Stefano provides insights into the workings of gene therapies, detailing the one administered to Khadidja's son, and also discusses his perspectives on proposed EU reforms to boost incentives for rare disease medicine development. Connect with the podcast at [email protected], and join the dialogue on social media using #EurordisRareOnAir! Also, don't forget to secure your spot at the 12th edition of the European Conference on Rare Diseases and Orphan Products (ECRD 2024), taking place online and in Brussels on 15-16 May 2024. Register for the event at: https://www.rare-diseases.eu/.
Action within reach: Shaping the future at ECRD 2024
29:43On 15-16 May 2024, EURORDIS-Rare Diseases Europe will be hosting the 12th edition of the European Conference on Rare Diseases and Orphan Products (ECRD), online and in Brussels. As preparations for the largest, patient-led rare disease policy-shaping conference ramp up, host Julien Poulain speaks to three guests about what they are most looking forward to about the event. Sharon Ashton, Events and Open Academy Director at EURORDIS, explains how ECRD has evolved over the years. Valentina Bottarelli, Public Affairs Director and Head of European Advocacy of EURORDIS, speaks about why ECRD 2024 promises to shape European policymaking on rare diseases, with it taking place just weeks before elections to the European Parliament. Gabriella Almberg, the Global Head of Rare Disease Policy & Public Affairs at UCB, and a representative of industry on the ECRD 2024 Programme Committee, discusses why the conference presents such a valuable opportunity for the developers of rare disease medicines to meet and learn from our community. Make sure to register for the conference and stay up to date by visiting the ECRD 2024 website: https://www.rare-diseases.eu/ You can also get in touch with the podcast by emailing [email protected], and join the conversation on social media using the hashtag #EurordisRareOnAir!
Giving back to the community
18:14Hosts Rhiannon Walls and Inés Hernando talk to Simone Louisse (ePAG advocate at ERN GuardHeart) and Barbara Brunmair (Project Manager at PaedCAN ERN) about how patient representatives involved in the European Reference Networks (ERNs) are sharing relevant information and resources generated by their networks with the local communities. They explore best practices for fast-tracking patients to access much needed virtual specialist advice offered by the ERNs and explore how their personal experiences as members of the rare disease community influence their work in the networks.