In Europe, a disease is characterized as rare when it affects less than 5 per 10,000 individuals. Most rare diseases are of genetic nature and may be manifested either at birth or childhood, or during the adult life.

These are very severe chronic diseases that may result in loss of life or disability. They are mostly incurable, while in some cases treatment may be directed to the management of symptoms in order to improve the patient’s quality of life as well as life expectancy.

The early diagnosis of these diseases is extremely difficult, because of their complex nature and rare incidence, as well as due to the fact that physicians are not adequately informed and experienced.  

It is highly probable that some physicians are never ‘faced’ with a rare disease and, thus, there is always the risk that, when a baby is born with a rare disease, the diagnosis be either inexistent or incorrect and, therefore, no treatment be administered.