Host Julien Poulain returns to the topic of newborn screening for rare diseases, upon the completion of a recent EURORDIS Rare Barometer survey on the topic. The survey received more than 6,000 responses (including more than 5,500 responses in Europe) from across the global rare disease community about health systems practice of screening at birth for health conditions.
Before exploring the results of the survey, Julien talks to Iuliana Dumitriu, the mother of Victor, an eight-year-old boy living with Coffin-Lowry Syndrome in Romania. Iuliana, who is also the President of the Coffin-Lowry Syndrome Association shares with Julien the story of her family’s torturous, yet determined, seven-year journey toward receiving a diagnosis for Victor.
Reflecting on Iuliana’s story, Julien also speaks to EURORDIS Social Policy Director, Jessie Dubief, who shares insights into the results of the recent EURORDIS Rare Barometer survey on newborn screening and the views of people living with rare diseases on being screened for conditions at birth.
Contact the podcast by emailing RareOnAir@eurordis.org, and join the conversation on social media using the hashtag #EurordisRareOnAir.
