Rare diseases, genetic origin ones in, are those low-frequency diseases, less than 5 cases per 10.000 inhabitants in a group, according to European Union definition.
The Rare Diseases concept, also known as ‘unusual diseases’, ‘minority diseases’ or ‘low frequency diseases’, consists of a group of diseases with some common characteristics:
Most of rare diseases cases appear during childhood, as a direct result of the high frequency of genetic origin diseases and the presence of congenital anomalies. Nevertheless, the prevalence is higher in adults than in children, due to the over mortality rate of some infant diseases, such as malformations or serious genetic diseases and also, because of the influence of some diseases whose appearance age is later, such as some self-immune pathologies, amyotrophic lateral sclerosis or genetic diseases like Huntington’s Disease, among other ones.
It isn’t easy to decide what rare diseases groups are, because there are nearly 7.000. They usually classify themselves following some criteria such as ‘what their cause can be’, or ‘what organ or part of the organism can be affected’. The following list has been taken from International Diseases Code 10:
The European Union has established statistical criteria thanks to which a disease is considered as a rare disease when it affects less than 5 people per 10.000 inhabitants. So, a disease is said to be rare when it affects less than 1 person per 2.000 inhabitants. Up today, nearly 7.000 diseases, more or less disabling, have been identified.
According to previous paragraph data, between 6 and 8% of the worldwide population could be affected, in some way, by these diseases. So, over 3 million people in Spain, 27 million people in Europe and 27 million people in North America. If we take into account an average of 4 people per family, in Spain there are about 12 million people that live everyday with a rare disease, by suffering themselves from it or by suffering some of their close relatives from it.
As it is read in the Feder’s (Rare Diseases Spanish Federation) web-site, although rare diseases (RD) show a lot of common necessities related to the more usual chronic diseases, the difficulties people that suffer from them and their families face are different. The handicap degree that they show is usually important and the possibility of having specific attention from arranged resources isn’t usually the most properly, what emphasizes the social duties that they must support which, at the same time, have effects on their environment people.
Most of RDs are chronic and complex. They are chronic, because they extend into time and they are complex, because their impact isn’t only sanitary but also social and psychological.
Affected by an RD show their hope that it will have an ‘integral attention’ that can coordinate the continuous attention plans for the patients as well as for their families and that helps these ones to evaluate the necessities they have.
Another necessity described by the families as important is the number of emotional problems due to feel isolated and discriminated even for the Health System, because of the ignorance about pathologies even by medical professionals who have shown the uncertainty they feel by facing the treatment of these patients’ daily problems.
© Instituto de Mayores y Servicios Sociales (Imserso) 2009
CRE Enfermedades Raras (Creer) de Burgos