Rare diseases in Latin America

Contributed by Luciana Escati, from La Federación Argentina de Enfermedades Poco Frecuentes (FADEPOF) and Angela Chaves, from Federacion Colombiana de Enfermedades Raras (FECOER).

Technological advances in scientific research have placed us in a universe of knowledge that today allows us to speak of more than 8,000 rare diseases (EPOF) that affect 8% of the world population, as determined by WHO. However, governments are not following at the same pace, causing a gap between knowledge of treatment and access to treatment.  

Rare diseases pose a real challenge to existing health systems. Governments must respond to them in different ways to other large scale conditions. It is necessary to use cross-cutting strategies involving the whole socio-health system. Public policies should be put in place to encourage a rational response.  

A Latin American challenge

The great challenge for the LATAM region is generating its own information, both for governments and society. Areas for improvement include pathologies and patient records; care and referral protocols; management guidelines and treatment; maps of socio-health resources at all levels of care; self-care and prevention guidelines; and assessment of new technologies.

Angela Chaves, President of FECOER, said:

"We need to establish structures and public resources available for the implementation of plans and programs that respond to the situation of those affected. There is also an urgent need to design insurance schemes and financing as well as running the surveillance, models and paths of health care, social protection and research. Some of these actions should be undertaken transnationally by Latin American countries against Multilateral Organizations, an issue with which Colombia remains committed."

National actions for the day

To commemorate Rare Disease Day, 29 February, FADEPOF has designed a series of actions aimed at national legislative and executive powers to raise public awareness and promote joint work:

1. Increase awareness of the rights of people with rare diseases in order to ensure equal opportunities of access to social and health resources regardless of where they reside, making enforceable regulations.
2. Encourage the inclusion of rare diseases in the design of public policies at national, provincial and municipal level, implementing integrated health service networks between government, health professionals and civil society, aimed at promoting early diagnosis and adherence to accessibility treatments, medical updates, clinical research, and equal social, employment and educational opportunities.
3. Promote strategies for Research & Development in rare diseases in joint scientific research between the public sector with the technology, production and marketing of the private sector. Focusing on knowledge of the human genome will encourage a greater understanding on the basic mechanisms of disease, lead to more accurate diagnosis, set the action of new drugs,, increase personalized treatments and even anticipate the risk of developing certain diseases and / or determine more effective preventive measures.  

About FADEPOF

La Federación Argentina de Enfermedades Poco Frecuentes (Argentina Federation of Rare Diseases) is a civil society organization, non-profit, formed and led by a community of patients and families. It currently has 62 members and works at local, provincial, national and regional level.  

About FECOER

Angela Chaves, President of Federacion Colombiana de Enfermedades Raras (Colombian Federation of Rare Diseases​), wrote the contributing article (in Spanish) for this piece.