Ayça Şahin's story and what our survey reveals about long diagnostic journeys

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 RareOnAir@eurordis.org, and join the conversation on social media using the hashtag #EurordisRareOnAir.