Listen now to EURORDIS RARE ON AIR latest episode, where Julien Poulain (Communication Manager at EURORDIS) speaks with 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 the peer-reviewed paper on the Rare Barometer study in the European Journal of Human Genetics: https://www.nature.com/articles/s41431-024-01604-z
Listen to this episode: https://podcasts.apple.com/gb/podcast/ay%C3%A7a-%C5%9Fahins-story-and-what-our-survey-reveals-about/id1657708019?i=1000657250454