What are rare diseases?
A disease is considered rare when it affects a certain number of people within a population, affecting 5 individuals per 10,000 inhabitants. The qualifier 'rare' has to do with it being infrequent or uncommon (Arcos, 2013).
These are diseases with a high mortality rate, but low prevalence, with a severe chronic evolution and with different motor, sensory and cognitive defects.
Their treatment and clinical care are highly complex, which makes diagnosis and recognition difficult, and most of them are genetic, although others are strongly influenced by the environment (Posada et al., 2008).
Prevalence of rare diseases:
According to the European Medicines Agency (as cited in World Health Organization, 2012), the number of rare diseases is between 5,000 and 8,000 in the European Union, affecting between 27 and 36 million people.
In Colombia, the Comprehensive Social Protection Information System (SISPRO) carried out a census in 2013 and found a total of 13,173 patients with rare diseases for 2013. Of this total, 53.96% (7,132) were women and 46.03% were men, most of them over the age of 28, the most common pathologies being congenital deficiency of factor VIII, myasthenia gravis, von Willebrand disease, short stature due to growth hormone abnormality and bronchopulmonary dysplasia. The five departments with the highest prevalence are Cundinamarca Caldas, Risaralda, Antioquia and Santander (Arcila, 2017).
therapeutic treatments:
Therapeutic treatments are limited and, in general terms, there is no remedy to cure rare diseases, although there are drugs aimed at managing the symptoms and controlling the evolution of the disease, as well as physical therapies (massage therapy, therapeutic exercise, magnetotherapy or electrotherapy) that they prevent and improve the quality of life of those affected, especially in patients with neuromuscular, postural, neouromotor, congenital or morphological alterations (Puente, Barahona & Fernández, 2013).
Colombian Federation of Rare Diseases (FECOER):
Rare diseases (RD) are represented by the Colombian Federation of Rare Diseases (FECOER), which emerged in 2011 as a response to the need to unify all associations and existing rare diseases and to be diagnosed in Colombia. This implies involving other actors such as the government, scientists, academics, service providers and the pharmaceutical system to solve common problems related to these pathologies, and generate clinical consensus around the diagnosis and the required care (Colombian Federation of Rare Diseases, 2019).
Law 1392 of 2010 – recognition of rare diseases in Colombia:
Rare diseases (RD) are backed by Law 1392 of 2010, which includes these pathologies within the Government's social protection scheme and through which orphan diseases are recognized and regulations are included to ensure social protection by of the Colombian State to people with these conditions and their families and/or caregivers (Ministry of Health and Social Protection, 2010).
According to the same source, the law includes aspects such as the financing of orphan diseases, the duties and obligations of the Colombian State with these pathologies (which includes the creation of a national registry of patients suffering from these diseases, medicines, care, training or dissemination of knowledge and strategies for research and social insertion) and the inspection, surveillance and control of actors linked to the care system.
