For many people living with rare diseases, the hardest part of their illness isn’t the treatment. It’s the wait for a diagnosis. Symptoms appear. Appointments follow. Tests are run. Specialists are consulted. And still, for what can be years, there are no answers.
This prolonged and uncertain search – often called the “diagnostic odyssey” – remains one of the defining challenges faced by people living with rare diseases across Europe.
Evidence from Rare Barometer, EURORDIS’ patient-led research programme, offers one of the clearest pictures of this reality. A Rare Barometer study on diagnostic journeys, published less than two years ago, analysed responses from more than 6,500 people living with rare diseases across 41 countries. The findings reveal not only how long many patients wait for answers, but also how uneven those journeys can be.
These questions will be among those explored at the European Conference on Rare Diseases and Orphan Products (ECRD) 2026, taking place in Prague on 3–4 June, particularly within the Diagnosis, Research and Prevention track.
The rest of this article explores why the diagnostic journey remains so long – and how Europe could begin to shorten it.