Orphanet, the European portal for rare diseases and orphan drugs, has stated that a disease is considered rare when it concerns less that 1 person per 2,000. On average 6,000 to 8,000 rare diseases have been identified, with an estimate of 6-8% of the overall population being affected. This means that in Europe, there would be 27 — 36 million people living with these isolated diseases, including approximately 660 — 880,000 people in Belgium.
Each rare disease concerns a small cluster of individuals, which independently do not draw much attention. If patients from all rare diseases collaborate by contributing to the Central Rare Disease Registry, the number of patients would increase and together, as one voice, we would have a larger impact.
In Belgium, the Central Rare Disease Registry is slowly coming together. It aims to identify all the patients with rare diseases, to support health care policies for rare diseases and to facilitate the recruitment of appropriate patients for clinical trials and research.
One of the branches of the Central Rare Disease Registry is the Belgian Neuromuscular Disease Registry (BNMDR) which is a registry of individuals with neuromuscular diseases in Belgium. It includes patients from 62 different neuromuscular diseases.
To this date, data has been collected in 2008, 2010, 2011, 2012, 2013 and 2014 for BNMDR.