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Overview:

Among the actions the Brazilian Federal Government will offer a free training course on the subject, in addition to the campaign mascot calling attention to diagnosis and information on the subject.

Introduction

The Ministry of Health has announced a new health campaign, called Somos Todos Raros (in English, We Are All Rare), related to the qualification of professionals who work in the Unified Health System (SUS) so that they can recognize patients with rare pathologies and, thus, refer them to specialized services.

The mascot of the new initiative aims to draw attention to pathologies that are not prevalent in the population and will appear on the Ministry’s social networks with important information and tips on rare diseases.

The Health Minister, Marcelo Queiroga, recalled that the Brazilian state has a fundamental commitment to the dignity of the human person, to life, and to freedom. “Rare people are one of the government’s priorities. We need a public policy that can sustainably attend to rare people. In a large country like Brazil, we need to engage in research to care for these people,” said the minister.

The initiatives

The Ações de Educomunicação em Doenças Raras (in English, Educommunication Actions on Rare Diseases) are a set of initiatives aimed at disseminating information about these diseases.

The Secretary of Work and Health Education Management, Mayra Pinheiro, reinforced that the organization has a commitment to train, qualify, and empower all professionals in Brazil. “Today we delivered 14 training courses for all health categories.”

The qualification course on Rare Diseases will be available on the UniverSUS Brasil platform and the registration is free of charge. The content was prepared by the Brazilian Society of Medical Genetics and Genomics (SBGM) in partnership with the Federal Council of Medicine, Brazilian Society of Medicine of Family and Community, Tele Health Center of Rio Grande do Sul and made available to the Ministry of Health.

About Rare Diseases

According to the World Health Organization (WHO), rare diseases are those that affect up to 65 people in every 100 thousand individuals, and it is estimated that 80% have a genetic origin. The others arise from factors such as the environment, infections, and immunological issues, among others.

Rare diseases are characterized by signs and symptoms that are often unknown. Moreover, these signs usually vary from disease to disease and from person to person, even if affected by the same condition. On average, 75% of rare disease cases occur in children and young people.

For 95% of the pathologies there is no specific treatment. Only 3% of rare diseases are treated surgically or with regular drugs that alleviate symptoms. Approximately 2% can be treated with orphan drugs (drugs that, for economic reasons, need an incentive to be developed), which can interfere with the progression of the disease. On the other hand, there is multidisciplinary follow-up and rehabilitation that gives the patients quality of life. This is why early diagnosis is so important.

Rare Disease Care Centers

The Conecte SUS app provides information of all the Rare Disease Care Centers in the country so that each family does not waste time looking for where to be attended.

There are at least 20 health establishments qualified as Reference Services for Rare Diseases throughout Brazil. Patients with rare diseases can also receive medical care and follow-up, according to each case, through Basic Health Units, or in Specialized Care, in a hospital or medium or high complexity service.

The University, Federal, and State Hospitals, which are 50 all over Brazil, also have services for cases of rare diseases.

There are also charitable and voluntary associations that rely on government resources and are mainly dedicated to cases of intellectual disability and dysmorphology, which are also able to offer care to patients with rare diseases.

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