One-year anniversary of the European Reference Networks for rare diseases

A report by Vytenis Andriukaitis, European Commissioner for Health and Food Safety:

Elisa from Alessandria in Italy suffers from osteogenesis imperfecta. This rare genetic disease causes brittle bones and affects only one in 15 000 people. Elisa, aged 30, was diagnosed with the disease as a small child. “I couldn’t play like other children” she recalled, “because if I fell, I would break something”. A year ago, when ERNs were just about to begin their work, we asked Elisa what she was expecting from them. “More research, for the people, for the children who are being diagnosed, to try and improve their quality of life” she said.

As a medical doctor, I have too often been witness to tragic stories from patients with rare or complex diseases. Having been diagnosed young, Elisa is luckier than most. Many patients are left in the dark for years, unable to find an accurate diagnosis let alone appropriate treatment. It is also a frustrating situation for doctors, who want the best possible results for their patients.

To read this report in full and more about ERNs go to: http://ec.europa.eu/newsroom/sante/newsletter-specific-archive-issue.cfm?newsletter_service_id=327&lang=default