Rare Diseases (RD) has become a new concept in public health.
They are a heterogeneous group of pathologies with a very low prevalence in the population. Although few people is affected by each disease, all together they affect more than 3 million argentinian people.
In Argentina, the National Law 26689 defines them as those entities whose prevalence is less than 1:2000.
It is estimated that there are, at present, approximately more than 6000 different RD, most of them chronic, disabling and approximately 80% of genetic etiology.
Despite the fact that they are different entities with diverse clinical presentation, the problems they promote both for the health system and for patients and their families are common (diagnostic delay, visit by many specialists, lack of information, etc.).
This scenario triggered other countries to seek solutions by implementing a series of public policies with new strategies that allow the creation of processes and structures aimed at improving the life of patients, families and professionals.
In Argentina, since 2015 with the creation of a National Program for RD in the Ministry of Health, strategic lines have been developed to simplify access to health care for patients affected with RD.