Rare is common; more than 7000 rare diseases affect around 400 million people worldwide (source: WHO). Sadly, for many of those affected receiving the right treatment at the right time is often not a matter of course. Most of the rare diseases are genetic and present in childhood. 30 % of the children born with a rare condition do not reach the age of 5 years. Delays in diagnosis are often caused by a lack of awareness. The symptoms are usually subscribed to the known illnesses, leading to unnecessary and sometimes even harmful treatments. Once diagnosed its difficult or impossible access to services due to lack of appropriate referral. Rejection by a health-care professional because of disease complexity or associated symptoms is common. Social isolation looms.
Collaborating patient organizations, representing individuals with a rare condition and their families, have taken the initiative to foresee in a web-based portal bringing together information on early recognition, medical care and social support.