Target of the lack of preparation of most doctors, forgotten by governments, dismissed by the farmaceutical industry and unknown by citizens, rare diseases cause suffering to those who have them and the people around them. More than an illness that will accompany them for the rest of their life, it's a way of being and living that is a constant challenge to patients and their families.
Of hard diagnosis, by lack of information about the illness and by the lack of preparation of doctors towards its specific symptoms, with the majority of patients having underlying genetic alterations, the definition of a rare disease is essentially the lack of frequency it hits the population: a disease is called "orphan" when it afects only a small number of people, when compared to the general population.
In the European Union, a disease is "rare" when it affects one in two thousand people, that is, when it has a prevalence of 5:10 000 in the general population. However, this concept can vary according to the region and the disease at hand.
Of hard clinic characterization, given its small incidence, as the scarce number of cases makes it hard to study them deeply, the treatment for these diseases is also complicated and often requires personalized therapeutic strategies. The disparity, the small number of cases and the specific character of each of these pathologies, makes research hard and it is difficult and expensive to produce farmaceutical products for them, the so-called "orphan drugs".
It is estimated that 6 to 8% of the world's population suffers from these diseases, which means 24 to 36 million people in the European Union, 11 to 14 million people in Brazil and 600 to 800 thousand people in Portugal may have rare diseases. There are an impressive seven thousand identified pathologies, with about five new diseases being weekly included on the list. A significant part of these known diseases and syndromes and links to educational websites about their characteristics and symptoms can be found via Health On The Net Foundation (HON).
Frequently cast aside by governments all over the world, given the high costs they entail in the Health budget, which usually only includes therapeutic costs, not any support with the medicine costs, the carriers of these diseases often need, to lead a dignified quality of life, the cooperation between health professionals, patients, families, parent associations and official organisms.
For more accurate information on rare diseases, you can visit the Eurordis website, with content available in several languages. Look around these websites and realize this is a current reality we must deal with on a daily basis, and that goes by unnoticed most of the time. Just being informed about these diseases and the hardship their patients go through is, in itself, a great contribution.
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