Difficulties in the diagnosis and treatment of rare diseases according to the perceptions of patients, relatives and health care professionals

Authors

  • Marcos Thomazin Lopes Universidade de São Paulo; Hospital das Clinicas HCFMUSP, Faculdade de Medicina; Pediatria, Instituto da Crianca
  • Vera Hermina Koch Universidade de São Paulo; Hospital das Clinicas HCFMUSP, Faculdade de Medicina; Pediatria, Instituto da Crianca
  • Vicente Sarrubbi-Junior Universidade de São Paulo; Faculdade de Saude Publica; Saude Materno Infantil
  • Paulo Rogério Gallo Universidade de São Paulo; Faculdade de Saude Publica; Saude Materno Infantil
  • Magda Carneiro-Sampaio Universidade de São Paulo; Hospital das Clinicas HCFMUSP, Faculdade de Medicina; Pediatria, Instituto da Crianca

DOI:

https://doi.org/10.6061/clinics/2018/e68

Keywords:

Diagnosis, Therapy, Rare Diseases, Research, Qualitative Study, Vulnerability

Abstract

OBJECTIVES: The aim of this study is to present a survey of vulnerabilities and to suggest approaches for the treatment of rare diseases according to the perceptions of a group of affected individuals, patient association representatives and health care professionals. METHODS: The focus group technique was used in interviews with patients and primary caregivers, patient support groups/non-governmental organizations, primary health care professionals and physician specialists. RESULTS: The transcript analysis focused on thematic units, which were tailored to each group and allowed comparisons in search of concordant views. Unanimity was observed in relation to the physical, emotional and social damage to the life standards of the affected individuals and their families as a result of illness. The Brazilian health system was unanimously classified as inadequate to respond to the needs of patients with rare diseases, and this inadequacy led to unpleasant experiences, such as the seemingly endless referrals among health services to reach a final diagnosis and develop a treatment plan. CONCLUSIONS: The complex set of health system requirements necessary to support the care of patients with rare diseases represents an obstacle to successfully meeting the needs of patients and their families. Therefore, it is important to develop specific public policies to create referral services, guarantee access to appropriate therapeutic modalities and incorporate technologies that promote research for developing new, affordable therapies.

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Published

2018-01-01

Issue

Section

Original Articles

How to Cite

Lopes, M. T., Koch, V. H., Sarrubbi-Junior, V., Gallo, P. R., & Carneiro-Sampaio, M. (2018). Difficulties in the diagnosis and treatment of rare diseases according to the perceptions of patients, relatives and health care professionals. Clinics, 73, e68. https://doi.org/10.6061/clinics/2018/e68