February 29 occurs only once every four years, meaning it is the least usual day on the calendar. Because of this particularity, this date was chosen to commemorate World Rare Disease Day. When it is not a leap year, the celebration moves to February 28.
Rare diseases (EPOF or EPF) - previously called rare diseases - are those that occur infrequently in the general population and affect a small number of people in a given population (low prevalence).
According to the World Health Organization (WHO), there are more than 6,000 low-prevalence clinical conditions , known in the world as uncommon or rare diseases. These pathologies may vary according to the country or region.
In Argentina, as established by Law 26689 (article 2), Rare Diseases are considered to be those whose population prevalence is equal to or less than one in two thousand people referring to the national epidemiological situation.
80% of rare diseases have an identified genetic origin , with the involvement of one or several genes. Others are caused by infections (bacterial or viral), allergies, or are due to degenerative, proliferative or teratogenic causes (chemical products, radiation, etc.) and for others, the etiology is still unknown. Although they can occur at any age, 75% of cases occur in pediatric age.
Knowledge about these diseases is still very recent and is not widespread in the health network. This fact entails additional problems: difficulty in obtaining a quick and accurate diagnosis and the lack or nonexistence of adequate or specific treatments.
According to data from the ’Study on the Situation of Socio-Health Needs of People with Rare Diseases in Latin America - Argentina Chapter’ (ENSERio LATAM - Argentina), carried out by the Argentine Federation of Rare Diseases (FADEPOF) in conjunction with the ’Ibero-American Alliance of Rare, Orphan and Infrequent Diseases’ (ALIBER), Argentines with EPOF take an average of 10 years to access a differential diagnosis from the appearance of the first symptom; 3 out of 10, as a result of delayed diagnosis, do not receive support or treatment, 31% see their illness or symptoms worsen and 23% receive treatment that is not adequate.
The work, carried out between 2019 and 2020, investigated the reality of those who live with any of these conditions and observed that 6 out of 10 patients frequently or almost always have the inability to carry out activities of daily living due to their illness. . They also experience feelings of depression and unhappiness three times more than the general population due to school absenteeism, unemployment, isolation, and stigmatization as a direct consequence of their illness.
The National EPF Program: objectives and lines of work
In our country, in 2011 the National Law on Rare Diseases was enacted and in 2015 it was regulated. It was then that, under the orbit of the Ministry of Health, the National Program for Rare Diseases was created, with the aim of improving access to health for people with EPF in Argentina. Your goals are:
• Promote EPF’s comprehensive health management approach.
• Improve access to diagnosis, treatment and monitoring of people with EPF.
• Ensure the quality of services for the comprehensive care of people with EPF.
• Strengthen the information system for programmatic monitoring and evaluation.
Among the main lines of action of the Program, the following stand out:
• The formation of an honorary advisory council, with representation of civil society organizations, academic entities and public health institutions. Among its functions are to issue opinions and non-binding proposals on policies, strategies and actions that are implemented from the National Program for Rare Diseases, and to prepare a list of EPF, according to the prevalence of said diseases in our country.
•The strengthening of the national EPF registry.
• Communication and access to updated and quality information.
•The coordination with key actors such as patient and family associations and other governmental and non-governmental organizations.
