MIT warns of challenges to diagnose and treat rare diseases in Latin America

Timely diagnosis, access to treatments and legislation are the main challenges to address the rare diseases that Latin American countries face, according to a study carried out in eight countries in the region and published this Wednesday by MIT Technology Review.

“We were able to conclude that two countries, Chili and Ecuadorare still in what we call an initial stage of development for the care of people with rare diseases, while Mexico, Peru and Uruguay are in an intermediate stage and Colombia, Argentina and Brazil at an advanced stage,” said Roberta Farinelli, health editor at the Massachusetts Institute of Technology (MIT), in a virtual conference.

The author of the study ‘Rare Diseases in Latin America’ explained that the research considered the number of associations that existed in each country, the legislation, the definition in each of them of a rare disease, the registries, and access to the treatments, among other points.

Based on this, he added, they qualified each country to classify the stage in which each one is.

Lack of knowledge of rare diseases

During a panel to discuss the results of the research, Antoine Daher, president of the Brazilian Federation of Rare Disease Associations, noted that these results reflect the reality of the region.

“We know that, for example, 98% “of doctors in Latin America do not know about rare diseases and, therefore, do not have a management plan, which affects the quality of life of patients”lament.

He stated that in Latin America a “ecosystem” to address these conditions, since there are still many shortcomings in terms of diagnosis, regulation, legal security and political will.

“What is needed is to understand how to treat rare diseases to have an adequate management model and plan”he pointed out.

María Teresinha Cardoso, coordinator of genetics and rare diseases at the Ministry of Health of the Federal District of Brazil, emphasized that the patient is “invisible” to the medical class because these diseases are unknown.

“Doctors are not prepared for so much and that for the patient is an obstacle, we must educate the medical class otherwise the patient will continue to suffer from a diagnosis for months or years.””, he stressed.

Carolina Fischinger, geneticist and vice president of the Brazilian Society of Neonatal Screening and Inborn Errors of Metabolism, asserted that rare diseases depend on political will to have recognition.

That, he said, makes it difficult to access timely diagnosis and treatment.

“We also have to provide technological access in the region to make these processes shorter,” he pointed out.

Finally, Diego Fernando Gil Cardoso, president of Rare Diseases of the Caribbean and Latin America (ERCAL), urged to end the disparity in the diagnosis and care of these conditions, as well as to have censuses to determine how many patients there are in the region and, Based on this, generate public policies.

Likewise, he said that although in countries like Colombia there is legislation on these diseases, the great challenge is the implementation of these laws and the knowledge of the more than 9,000 rare conditions that currently exist.

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