In Europe, a disease is defined as rare when its prevalence is less than 1 in 2,000. The management of patients with rare diseases refers to the complex and heterogeneous status of some 6,000 to 8,000 diseases, 80% of which are of genetic origin. Rare diseases mostly affect children. Due to the large phenotypic heterogeneity, rarity and unusual nature of rare diseases, the affected patients regularly encounter a lack of knowledge regarding their disease, which is most often associated with diagnostic wavering until an accurate diagnosis is made and lack of treatment.
In order to draw attention on and address this issue, the European Commission has been developing initiatives aiming to ensure the development of concrete measures for the patients and their families across its member states for more than two decades.
Responding to this call, Belgium is committed to improving the management of rare diseases and has thus developed a national plan. Multidisciplinary diagnostic structures were created and supported, partnerships with European reference networks were established, and registers were set up in order to centrally and uniformly collect patient data. This article offers an overview of the characteristics of rare diseases, as well as an inventory of existing measures in both Europe and Belgium.