From the search for diagnosis to treatment uncertainties: challenges of care for rare genetic diseases in Brazil/Da busca pelo diagnostico as incertezas do tratamento: desafios do cuidado para as doencas geneticas raras no Brasil

Rare genetic diseases are an important public health problem, but they are still little studied in Collective Health. This article aims to analyze the 'therapeutic itineraries' of patients in search of a diagnosis and treatment for rare genetic diseases in the cities of Rio de Janeiro, Sal...

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Bibliographic Details
Published in:Ciência & saude coletiva 2019-10, Vol.24 (10), p.3637
Main Authors: Iriart, Jorge Alberto Bernstein, Nucci, Marina Fisher, Muniz, Tatiane Pereira, Viana, Greice Bezerra, de Araujo Aureliano, Waleska, Gibbon, Sahra
Format: Article
Language:Spanish
Subjects:
Analysis
Cities and towns
Family relations
Food
Food supply
Health aspects
Medical economics
Medical genetics
Medical personnel
Medical societies
Public health
Public health movements
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Summary:Rare genetic diseases are an important public health problem, but they are still little studied in Collective Health. This article aims to analyze the 'therapeutic itineraries' of patients in search of a diagnosis and treatment for rare genetic diseases in the cities of Rio de Janeiro, Salvador and Porto Alegre. It focuses on the material challenges, emotional and structural problems faced in these trajectories. Semi-structured interviews were conducted with patients/caregivers and health professionals in the context of public health medical genetics. Our findings suggest that the experience of the rare genetic disease is aggravated by practical, inter-relational and bureaucratic/institutional problems. The reality of long and circuitous journeys to obtain a diagnosis, non-geneticists' lack of knowledge about rare diseases, difficulties in transportation and access to specialists, diagnostic and complementary examinations, and access to high-cost medicines and food supplies were common challenges in all the narratives examined in the three Brazilian cities. In addition, adherence to care provided by medical genetics requires action and strategies that depend on arrangements involving family members, physicians, patient associations, and the state.
ISSN:1413-8123
1678-4561
DOI:10.1590/1413-812320182410.01612019