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Characteristic of Rare Diseases

“There are rare diseases in every area of medicine - autoimmune, cardiovascular, chromosomal, dermatologic, infectious, metabolic, neurologic, pulmonary, renal, and so forth.  Many rare diseases are “multi-system” diseases, affecting several different parts of the body and often devastating to those affected.  It is estimated that 80 to 90% of rare diseases are genetic diseases.  Many are apparent at birth, although there are also genetic diseases that don’t make their presence known until much later in life.  Many of the patients are children since, for about 50% of rare diseases, the onset occurs in childhood.” - Mary Dunkle, NORD

Source: Dunkle, Mary. Rare Diseases and Orphan Products [Internet]. Version 3. Knol. 2008 Aug 20. Available from: http://knol.google.com/k/mary-dunkle/rare-diseases-and-orphan-products/1e8s2q3brjpxp/2.

The majority of rare diseases does not have approved treatment options. This means that patients are often treated “off-label” for their symptoms, with drugs that are intended to treat other diseases.

“Beyond the diversity of the diseases, rare disease patients and their families are confronted with a wide range of difficulties arising from the rarity of the disease. Diagnosis is regularly made late, when the patient has already been treated – during many months or even years – for another more common disease. The period between the emergence of the first symptoms and the accurate diagnosis may involve risky delays.“

Source: “Rare Diseases : Understanding this Public Health Priority” – Eurordis, November 2005 – www.eurordis.org

A survey of the delay in diagnosis for eight rare diseases in Europe was conducted by the European Organisation for Rare Diseases in 2005. In collaboration with 67 European rare disease organisations, Eurordis conducted this survey to study the delay in diagnosis for eight rare diseases in European countries. The main findings of this survey were that 25% of the patients had to wait between five and 30 years from early symptoms to the confirmatory diagnosis of their disease. Before receiving a confirmatory diagnosis, 40% of the patients first received an erroneous diagnosis, others received none. 25% of the patients had to travel to a different region to obtain the confirmatory diagnosis, and 2% had to travel to a different country. The diagnosis was announced in unsatisfactory terms or conditions in 33% of the cases, and in unacceptable ones in 12.5% of the cases. The genetic nature of the disease was not communicated to the patient or his/her family in 25% of the cases.

Source: Eurordis, www.eurordis.org

“Similar results have been reported by the U.S. National Commission on Orphan Diseases: about 50% of the patients reported receiving a diagnosis within a year of their first visit to a doctor. Nearly 30% of the patients in the survey reported that as many as five years passed before their disease could be identified; and 15% reported that they were not diagnosed for six or more years.”

Source: Eurordis, www.eurordis.org