There are between 5000 and 7000 rare diseases. These are often chronic, progressive,
degenerative, and often life-threatening diseases. Rare diseases are mostly genetic, and
are therefore present throughout the patient's life, even if symptoms do not appear
immediately. However, many rare diseases appear early in life, and about 30% of
children with rare diseases die before reaching their fifth birthday. There is no cure for
most of the rare diseases, so the art of living with a rare disease is an ongoing learning
experience for patients and families.
»Orphan drugs« are medicinal products intended for the diagnosis, prevention or
treatment of life-threatening or debilitating rare diseases. They are »orphans« because
the pharmaceutical industry, under normal market conditions, has little interest in
developing and marketing drugs intended for only a small number of patients suffering
from very rare conditions
