Rare diseases

In the European Union, a disease is considered rare when it affects fewer than one person in 2,000. As there are more than 7,000 rare diseases, this is ultimately a relatively common problem. Although each disease is rare or very rare individually, together they affect approximately 5% of the population. Not all rare diseases are genetically determined (or are known to be genetically determined). This is the case, for example, with autoimmune diseases, congenital malformations and rare cancers. Their presentation and progression vary considerably, and this also applies to a single rare disease. Patients need specialised multidisciplinary care that addresses their specific medical, paramedical, psychosocial and other needs.

Patients with a rare disease should receive appropriate and specific care: a diagnosis as quickly as possible and follow-up in care units trained in these rare conditions. The Rare Diseases Function (8 in Belgium) is responsible for coordinating, together with the teams possessing the relevant expertise, care pathways and scientific research and training projects for all the stakeholders involved, to ensure appropriate care that is constantly evolving.