When a disease or disorder affects less than 1 person in 2,000 in their lifetime, it is defined as “rare” or “orphan”. There are over 7,000 known rare diseases and each year dozens more are discovered. The majority of rare diseases (around 80%) are of genetic origin, and are often chronic (i. e., present throughout a person's entire life, even if symptoms do not immediately appear) and life-threatening. 25% of children with a rare disease will not live until the age of 10 years.
Rare diseases are characterized by a wide diversity of symptoms and signs that vary not only from disease to disease but also from patient to patient suffering from the same disease. Relatively common symptoms can hide underlying rare diseases, leading to misdiagnosis. Rare diseases not only affect the person diagnosed, they also impact society as a whole, including families, friends, and caretakers.
Altogether, rare diseases affect a significant part of the population, but an individual one may affect only a few persons in a million. As an example, rare disease patients comprise 6% to 8 % of the EU community. Also, some diseases (especially those of genetic and infectious origins) which are rare in some populations may be common in others. An example is cystic fibrosis, a genetic disease: it is rare in most parts of Asia but relatively common in Europe and in populations of European descent. Many infectious diseases are rare worldwide, except some geographic areas of prevalence. Other diseases, such as many rare forms of cancer, have no apparent pattern of distribution.
Rare Disease Day is held on the last day of February every year. 29 February 2020 will be the 13th international Rare Disease Day coordinated by EURORDIS. On and around this day hundreds of patient organizations from countries and regions all over the world will hold awareness-raising activities.
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