EURACAN Registry: Developing a long-term vision together

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 with SoMA, a German organisation supporting families impacted by anorectal malformations, Hirschsprung's disease, and cloacal exstrophy, Miriam discusses how her dual roles as a parent and medical professional have uniquely shaped her perspective on rare disease care. She explains why centralising highly specialised treatments is important for improving patient outcomes and reducing healthcare costs and outlines her vision for the systemic changes needed to support rare disease families across Europe. Join the conversation using #EurordisRareOnAir or reach out via [email protected].

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 scepticism from healthcare professionals, leading to a delayed diagnosis. For three years, Zainab chose to keep her diagnosis private, revealing it only to her immediate family. She shares the reasons that had underpinned this decision. The episode highlights the cultural and educational gaps in rare disease healthcare, the emotional impact of how a diagnosis is delivered, and the critical role of family support. Zainab also discusses her advocacy work, including her Instagram @themyasthenicmedic, where she raises awareness of invisible disabilities and calls for improved rare disease education in medical schools. Join the conversation using #EurordisRareOnAir or contact the podcast via [email protected].

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 usual course of development of a condition, and the needs of patients living with that condition, through their day-to-day experiences. The ERN RND representatives share their experiences in creating patient journeys, disseminating them in new and innovative ways, and give practical advice on how to build resources that have the largest possible impact!   Resources mentioned: EURORDIS Guide to developing a Patient Journey: https://www.eurordis.org/publications/guide-to-developing-patient-journey/ How the Patient Journey can improve care pathways? https://www.eurordis.org/care-pathways/  ERN RND patient journeys: https://www.ern-rnd.eu/disease-knowledge-hub/ern-rnd-patient-journeys/  ERN RND Scientific Theatre Dystonia: https://www.ern-rnd.eu/disease-knowledge-hub/dystonia/

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 vision for a more inclusive society. Jane also highlights the importance of newborn screening for rare diseases like SMA, and shares personal stories of advocacy successes, emphasising the need for acceptance and equality. 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 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 importance of forming a supportive community for individuals undergoing similar struggles. Marina also delves into her advocacy work, the evolution of HSP research, and the potential for drug repurposing. Inspired by her participation at the EURORDIS Open Academy in Barcelona earlier this month, Marina emphasises the critical role of patient advocacy in advancing treatments for rare diseases. She expresses her hopes for guiding and informing HSP research to ensure that scientific efforts are truly aimed at enhancing the quality of life for HSP patients. Contact the podcast by emailing [email protected], and join the conversation on social media using the hashtag #EurordisRareOnAir.

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 simplifying access for patients with rare diseases. They also share their own professional insights and practical advice on navigating this complex healthcare landscape and the potential of ERNs to ease the process for patients and their families. Further information, as mentioned in the episode: Information for patients with rare diseases traveling abroad for medical care (in Czech only) European Commission’s Toolbox for Cross-Border Healthcare Czech Ministry of Health

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 her and her brother’s journey to receiving an SMA diagnosis. Ayça highlights the critical importance of early and accurate diagnoses for rare disease patients in Europe. Reflecting on Ayça's story, EURORDIS Social Research Director Jessie Dubief discusses the survey results, revealing that the average rare disease patient in Europe waits nearly five years for a diagnosis. Jessie also details disparities in diagnostic journeys based on gender, age, and region. Read our press release on the survey findings: eurordis.org/survey-reveals-lengthy-diagnostic-delays/ You can also read the peer-reviewed paper on the Rare Barometer study in the European Journal of Human Genetics: nature.com/articles/s41431-024-01604-z 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 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 started leveraging social media, and her compression garments, to cast a positive light on managing the rare condition. Originally from Puerto Rico and now based in London, Nicole's story is one of resilience, fostering a supportive community, and dedication to educating the public, healthcare professionals, and fellow patients about lymphedema. Tune in to learn more about Nicole’s compelling journey and her ongoing efforts to raise awareness through her innovative and engaging content! Contact the podcast by emailing [email protected], and join the conversation on social media using the hashtag #EurordisRareOnAir. Also, do not forget to register for our 12th European Conference on Rare Diseases and Orphan Products (ECRD 2024), taking place online on 15-16 May 2024! Get your tickets now at: rare-diseases.eu.

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 the episode, Virginie shares her moving accounts of how FFI (or, in French, insomnie fatale familiale - IFF) has touched her life and those of her family members, offering listeners a glimpse into the emotional toll and challenges posed by living with such a rare condition. Despite the obstacles in paving the way for medical advancements in FFI, Virginie's narrative is one of undiminished hope, unwavering determination, and relentless perseverance. She delves into the milestones and efforts her organisation has achieved since its inception a year ago, outlining her vision for the FFI community and imparting invaluable advice for anyone striving to make a difference in the realm of ultra-rare diseases. Contact the podcast by emailing [email protected], and join the conversation on social media using the hashtag #EurordisRareOnAir. Also, do not forget to register for our 12th European Conference on Rare Diseases and Orphan Products (ECRD 2024), taking place online on 15-16 May 2024! Get your tickets now at: https://www.rare-diseases.eu/

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, why we need them and why patient involvement is crucial to their longevity.