| Autor: |
Iriart JAB; Instituto de Saúde Coletiva, Universidade Federal da Bahia. R. Basílio da Gama s/n, Canela. 40110-040. Salvador, BA, Brasil. iriart@ufba.br., Nucci MF; Casa de Oswaldo Cruz, Fiocruz. Rio de Janeiro, RJ, Brasil., Muniz TP; Universidade Federal do Rio Grande do Sul. Porto Alegre, RS, Brasil., Viana GB; Programa de Pós-Graduação em Ciências Sociais, Universidade Federal da Bahia. Salvador, BA, Brasil., Aureliano WA; Instituto de Ciências Sociais, Universidade do Estado do Rio de Janeiro. Rio de Janeiro, RJ, Brasil., Gibbon S; Anthropology Department, University College of London. London, England. |
| Jazyk: |
Portuguese; English |
| Zdroj: |
Ciencia & saude coletiva [Cien Saude Colet] 2019 Sep 26; Vol. 24 (10), pp. 3637-3650. Date of Electronic Publication: 2019 Sep 26 (Print Publication: 2019). |
| DOI: |
10.1590/1413-812320182410.01612019 |
| Abstrakt: |
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. |
| Databáze: |
MEDLINE |
| Externí odkaz: |
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