What is a Rare Disease?

According to the World Health Organization (WHO), a disease is considered to be rare when the number of people affected is less than 5 per 10,000.

There are between 5,000 and 8,000 rare diseases most of them with a genetic basis. Rare diseases are serious chronic diseases, and may be life-threatening.  Approximately 7% of the world’s population is affected by a rare disease. This represents an important group of patients that need specialized attention in health services to cope with their disease. In recent decades, worldwide efforts have focused considerable attention to encourage research, development and marketing of treatments for rare diseases. While policy and regulatory advancements have been made, greater reform is needed. ERCAL recognizes the importance of acknowledging rare diseases, and Works hand in hand with associations from Latin America and the Caribbean to raise awareness regionally. 

Statistics

Latin American Rare Disease prevalence: (38-63 million people)

Regulations

UN Resoultion for People with Rare Diseases: December 16, 2021 Resolution on “Addressing the challenges of persons living with a rare disease and their families.

Resolution highlights:

1. Inclusion and participation in society of people living with a rare disease and their families.
2. The guarantee of universal and equitable access to quality health services without financial hardship.
3. Promoting national strategies and actions.
4. Integrating rare diseases into UN agencies, programs and priorities.
5. Publishing periodic reports by the UN to monitor progress in the implementation of the resolution.

Bandera Argentina

Law 26689. Comprehensive health care for people with rare diseases.– The purpose of this law is to promote comprehensive health care for people with Rare Diseases (RDD) and to improve the quality of life for them and their families.

Decree 794/2015. Regulation of Law 26689.

Resolution 2329/2014. National Program for Rare Diseases and Congenital Anomalies. The National Program of Rare Diseases and Congenital Anomalies is hereby created under the orbit of the national direction of community medicine, under the subsecretary of community medicine, maternity and children, of the Ministry of Health of the Nation.

Resolution 240/2019. Internal operating regulations of the National Commission for Patients with Spinal Muscular Atrophy. Whereby the internal operating regulations of the NATIONAL COMMISSION FOR PATIENTS WITH SPINAL MUSCULAR ATROPHY were approved.

Resolution 1453/2019. National Commission for Patients with Spinal Muscular Atrophy to operate within the orbit of the Rare Diseases Program. The NATIONAL COMMISSION FOR PATIENTS WITH SPINAL MUSCULAR ATROPHY is hereby created, which shall operate within the Rare Diseases Program of the National Directorate of Maternity, children and adolescents under the Secretariat of Health Promotion and Prevention and Risk Control.

Resolution 1115/2020. Guarantee the continuity of coverage for the treatment of patients with Spinal Muscular Atrophy, in types I, II and IIIA. Health Insurance Agents and Prepaid Medicine Entities must guarantee the continuity of coverage for the treatment of patients with Spinal Muscular Atrophy, types I, II and IIIA.

bandera brasil

 

In Brazil, neonatal screening for rare diseases has been implemented since 2001 and, since 2009, a national policy for comprehensive care in clinical genetics has been in place.

Policy for the Integral Attention to Subjects with Rare Diseases: establishing guidelines for offering comprehensive care (diagnosis, treatment and/or long term management) to individuals affected by rare diseases in the public unified health system (the same definition of World Health Organization for rare diseases, as those affecting less than 65 out of 100,000 individuals, was used). This policy defines an annual plan of action and financial and logistical support, and envisages the establishment of a national database (important for facilitating the access to high cost drugs, genetic tests, for instance) and the creation of reference treatment centers. These centers should be able to evaluate patients, perform genetic testing procedures, diagnose, treat and offer genetic counseling. The policy defines the two main axes, genetic and non-genetic rare diseases. In addition, it divides the genetic rare diseases in 3 groups: congenital anomalies & late-onset diseases, intellectual disability and metabolic disorders. In this fashion, genetic services in SUS will be installed and funded not by themselves, but as part of the more general policy of rare diseases.

bandera de chile

Law N° 20.850, june, 2015: This Law provides financial protection for specific health conditions, such as oncological, immunological and rare or infrequent diseases, which have been determined through a Supreme Decree of the Ministry of Health.

Bandera Colombia

Law 1392, 2010: by which it is recognized that orphan diseases represent a problem of special interest in health, given their low prevalence in the population, but their high cost of care, they require within the Social Security Health System an insurance mechanism different from that used for general diseases, including high-cost diseases, and highly specialized care processes with a large administrative follow-up component.

National Decree 1954 de 2012: “Whereby provisions are issued to implement the information system for patients with orphan diseases”. 

Agreement 537, 2013: by which the design and implementation of a strategy on the promotion of early detection, follow-up, rehabilitation and surveillance of people affected by orphan diseases in the Capital District.

Bandera México

Internal REGULATIONS of the Commission for the Analysis, Evaluation, Registration and Follow-up of Rare Diseases – Aims to regulate the organization and operation of the Commission for the Analysis, Evaluation, Registration and Follow-up of Rare Diseases, as well as to establish the procedure and criteria to be followed for the definition, registration and follow-up of those diseases that should be considered as rare and, if necessary, the exclusion of those already defined as such.

Standing Commission Gazette
General Health Law

Bandera Panamá

Panama currently has Law 28 of October 28, 2014, which guarantees social protection to the population suffering from rare, infrequent and orphan diseases. The national interest in rare diseases is recognized by the State, seeking to guarantee access to health services, treatment and rehabilitation for people diagnosed with these diseases, in order for citizens to benefit from the different plans, programs and public health strategies to improve the quality and life expectancy of patients.

Bandera Perú

Regulation of Law No. 29698, Law that declares of National Interest and Preferential Attention the Treatment of persons suffering from Rare or Orphan Diseases.

Bandera Urguguay

Task force created to work on rare disease patient and family law – In the first days of September, a working group was officially set up in Parliament with the aim of drafting a bill that takes into account the demands of rare disease patients and their families. This is the second part of the Resolution Rare 4 campaign, led by Eurordis (European Organization for Rare Diseases) and the International Committee for Rare Diseases.

ADAPA, Alianza Dominicana de Asociaciones de Pacientes has submitted to the Senate of the Republic a request for legislation covering all aspects of rare diseases. ADAPA is seeking sponsors and donations to cover the expenses of professionals to help contribute to the Senate working group to which they have been invited. The project will be presented by the Senator of Santo Domingo, who is requesting their technical and legal cooperation in the different discussion tables of the project.

  • Law 7600 “Law of Equal Opportunities for People with Disabilities”, cares for the importance of people who have a disability related with a rare disease, since it guarantees them equal access to public environments, rights and work.
  • In Costa Rica, one of the branches of the Republic that watches over the fundamental and constitutional right to health is the Judiciary, to which people turn to when the right to health has been violated and the administrative instances have been exhausted. Beyond the Laws, the Jurisprudence of the Court is vast in the defense of Health. 
  • Red de Enfermedades Raras presented a project for Rare Diseases;  this project is still under review by the Legislative Assembly.