0374/2017 - Trajetórias Terapêuticas Familiares: Doenças raras hereditárias como sofrimento de longa duração. Family Therapeutic Trajectories: Inherit rare diseases as long-term suffering.
Este artigo analisa elementos comuns na trajetória de pessoas afetadas por doenças raras hereditárias no Brasil, tendo por cerne a busca por diagnóstico e tratamento, e a reprodutibilidade da família. Classificam-se como “raras” doenças que afetam 65 pessoas a cada 100 mil. São condições geralmente crônicas e degenerativas, muitas delas sem cura ou tratamento efetivo. Cerca de 80% das doenças raras tem origem genética e são hereditárias. Esse dado traz implicações importantes no que diz respeito às políticas de atenção à saúde da família, a reprodução e o cuidado para condições clínicas que, em alguns casos, atravessam várias gerações. Para análise dos dados, articulam-se dois eixos teóricos: os estudos de família e parentesco e as análises sobre os sofrimentos de longa duração. A pesquisa desenvolveu-se junto a pessoas afetadas por doenças raras hereditárias e seus familiares, nos cenários políticos nos quais esses atores transitam, como associações de pacientes, congressos científicos e audiências públicas. Evidencia-se a necessidade de construção de uma pauta contínua sobre as doenças raras no Brasil, capaz de promover de fato o acesso universal e integral das pessoas afetadas ao sistema público de saúde, e buscar soluções para minorar sofrimentos que ameaçam a própria continuidade da família.
Palavras-chave:
Doença Rara; Família; Parentesco; Genética.
Abstract:
This article analyzes common elements in the trajectory of people affected by hereditary rare diseases in Brazil, focusing on the search for diagnosis and treatment, and the reproducibility of the family. Rare diseases affect 65 people in every 100 thousand. These are usually chronic and degenerative conditions, many without healing or effective treatment. About 80% of rare diseases are genetic in origin and can be inherited. This fact has important implications for family health care policies, reproduction, and care for clinical conditions that, in some cases, spanned generations. To analyze the data, two theoretical axes are articulated: family and kinship studies, and analyzes of long-term suffering. The research investigated people affected by rare hereditary diseases and their families, in the political scenarios in which these actors circulate, such as patient associations, scientific congresses and public hearings. There is evidence of the need to build a continuous agenda on rare diseases in Brazil capable of effectively promoting universal and integral access of the affected persons to the public health system, and seeking for solutions to alleviate suffering that threatens the very continuity of the family.
Family Therapeutic Trajectories: Inherit rare diseases as long-term suffering.
Resumo (abstract):
This article analyzes common elements in the trajectory of people affected by hereditary rare diseases in Brazil, focusing on the search for diagnosis and treatment, and the reproducibility of the family. Rare diseases affect 65 people in every 100 thousand. These are usually chronic and degenerative conditions, many without healing or effective treatment. About 80% of rare diseases are genetic in origin and can be inherited. This fact has important implications for family health care policies, reproduction, and care for clinical conditions that, in some cases, spanned generations. To analyze the data, two theoretical axes are articulated: family and kinship studies, and analyzes of long-term suffering. The research investigated people affected by rare hereditary diseases and their families, in the political scenarios in which these actors circulate, such as patient associations, scientific congresses and public hearings. There is evidence of the need to build a continuous agenda on rare diseases in Brazil capable of effectively promoting universal and integral access of the affected persons to the public health system, and seeking for solutions to alleviate suffering that threatens the very continuity of the family.
Aureliano, W. Trajetórias Terapêuticas Familiares: Doenças raras hereditárias como sofrimento de longa duração.. Cien Saude Colet [periódico na internet] (2017/out). [Citado em 23/12/2024].
Está disponível em: http://cienciaesaudecoletiva.com.br/artigos/trajetorias-terapeuticas-familiares-doencas-raras-hereditarias-como-sofrimento-de-longa-duracao/16426?id=16426
