Rare diseases

In European Union a disease is considered a rare when it affects 1 person per 2000. On the other hand, the number of individual diseases is very high. Presently about 7000 genetic diseases are known and they extend to all fields of medicine.

A rare disease or disability causes a variety of problems:

• It may take a long time, even years, for the diagnosis to be made, because the disease is not recognized in basic health care.
• Finding appropriate care and rehabilitation is not self-evident, because it is difficult to find personnel with experience in these matters.
• Very little information on the significance of a given disease at different phases in one’s life is available, at least not in one’s own native language.
• It can be hard to find others with the same disease, even though peer support would be of primary importance in a situation like this.

Orphanet, the European Union portal on rare diseases and orphan drugs is freely accessible for the public. Its aim is to contribute to the improvement of the diagnosis, care and treatment of patiets with rare diseases. The site contains descriptions of rare diseases compiled by experts, links to specialized clinics, patient associations and Internet sites.

Orphanet Finland is hosted at the Department of Medical Genetics, Väestöliitto.

The Department of Medical Genetics participates also in other activities of rare disease and disability groups. Department is a member of the Harvinaiset (Rare diseases) Network, as an expert in genetics issues. For international contacts there is a mailbox rarediseases(at)vaestoliitto.fi

12.10.2011/Lt