Rare diseases EU definition
The European Commission is increasingly supporting collaborative initiatives focused on research into treatments and drugs for rare diseases, but lack of funding continues to be an issue. Gary Humphreys reports.
“It was like being hit by a tsunami.” French mother of three, Béatrice de Montleau, vividly recalls the day she learned that her four-year-old son had Duchenne muscular dystrophy, a neuromuscular disease characterized by rapidly progressive muscle weakness and wasting. The disease primarily affects males and onset occurs early. People with the disease usually die in young adulthood, succumbing to cardiomyopathy, the effect of the disease on the heart muscle, and respiratory failure. Treatment with steroids offers some relief, but there is no cure. “For a time I was just in shock, ” says de Montleau. “It was devastating.”
With an estimated incidence of 1 in 3300, Duchenne muscular dystrophy is considered a rare disease, one of several thousand classified as such. Estimates vary as to exactly how many rare diseases there are, partly because countries define rare diseases differently. “In European Union (EU) countries, any disease affecting fewer than 5 people in 10 000 is considered rare, ” explains Antoni Montserrat Moliner, policy officer at the Directorate of Public Health at the European Commission in Luxembourg. Most patients suffer from diseases affecting 1 in 10 000 or less. According to the European Medicines Agency, there are between 5000 and 8000 distinct rare diseases in the EU, affecting between 27 and 36 million people.
Rare diseases range from cystic fibrosis and haemophilia to Angelman Syndrome, with an incidence of about 1 in 15 000, to Opitz trigonocephaly syndrome, which is extremely rare with about one case per million people.
Six-year-old Pierre has Angelman Syndrome, a disease which causes severe developmental delay. Its prevalence is about one in 15 000
While the parents of children with rare diseases may initially be isolated by grief, they soon realize that talking to people going through similar experiences is invaluable. “They have to reach out, ” says Paloma Tejada, communications director at the European Organization for Rare Diseases (EURORDIS), a nongovernmental, patient-driven alliance of patient organizations and individuals active in the field of rare diseases. For her part, Béatrice de Montleau reached out to the French Muscular Dystrophy Assocation, Association Française Contre les Myopathies.
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