70% of rare diseases are genetic


73% of rare diseases, the first symptoms usually appear before or during infancy.


69% of peoples rare disease was diagnosed more than 5 years after the first medical encounter


68% the symptoms of the rare disease are improvin


83% of parents of people living with a rare disease would have liked their child to be diagnosed at birth

This survey on newborn screening for rare diseases like HHT received 13,300 responses from over 104 countries; it offers an extensive look into the experiences of patients with rare diseases. Conducted by Rare Barometer, a global survey initiative by EURORDIS, aims to amplify the voices of rare disease patients. 


The findings from this survey will play a crucial role in shaping policy recommendations aimed at improving and shortening the diagnosis journey for individuals living with rare diseases.


The responses provide invaluable insights into the challenges faced during the diagnosis process, highlighting patients’ significant obstacles. These detailed facts and figures will be instrumental in advocating for positive changes, particularly in terms of improving access to diagnosis and addressing the difficulties faced by those with rare diseases. By leveraging this data, advocates can push for policies that enhance the diagnostic experience and ultimately improve the lives of rare disease patients worldwide.

Deepest thanks to our members for your participation in the Rare Barometer survey on newborn screening

We extend our heartfelt gratitude to each and every one of our members for your invaluable participation in the Rare Barometer survey on Newborn screening.

Your dedication to advancing research and advocacy in the realm of rare diseases is truly commendable.

By sharing your insights and experiences, you are instrumental in driving positive change and ensuring that newborns worldwide have access to the early detection and interventions they need.

Thank you for being champions for the rare disease community and for making a difference through your participation.

In Europe, 5,569 people with a rare disease and their family members expressed their views on Newborn screening in a Rare Barometer survey conducted between 24 May and 23 July 2023.