From the search for diagnosis to treatment uncertainties: challenges of care for rare genetic diseases in Brazil

Iriart, Jorge Alberto Bernstein; Nucci, Marina Fisher; Muniz, Tatiane Pereira; Viana, Greice Bezerra; Aureliano, Waleska de Araújo; Gibbon, Sahra

doi:10.1590/1413-812320182410.01612019

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ARTICLE • Ciênc. saúde coletiva 24 (10) • Oct 2019 • https://doi.org/10.1590/1413-812320182410.01612019 copy

From the search for diagnosis to treatment uncertainties: challenges of care for rare genetic diseases in Brazil

Authorship SCIMAGO INSTITUTIONS RANKINGS

Abstract

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.

Key words
Rare disease; Genetics; Therapeutic itineraries

	Patient or caregiver	City of interview	Municipality of residence	Hospital / Institution	Diagnosis	Sexual Differentiation Anomaly (SDA) is a situation in which sex (46, XX or 46, XY), gonadal sex (ovary or testis) and phenotype sex (male or female appearance) are not in agreement.	Private Health Plan	Judicialization
E1	Patient	Salvador	Salvador-Ba	Hospital 1	Sexual ambiguity	-	No	No
E2	Patient	Salvador	Salvador-Ba	Hospital 1	Doesn't know the diagnosis	A rare genetic disease (0.7/100,000 births) of dominant X-linked inheritance, in which 97% of the affected are women and is almost always fatal in males, leading to spontaneous abortion in most cases. The main symptoms are skin lesions in varying degrees.	No	No
E3	Caregiver	Salvador	Santo Estevão-Ba	Hospital 1	Pigment Incontinence	-	No	No
E4	Caregiver	Salvador	Piatã-Ba	Hospital 1	Suspected neuromuscular disease	It is a connective tissue disease characterized by joint hypermobility, hyperextensible skin and abnormal healing. The skin is flaccid and elastic, showing marked hyperextensibility. The wound scars are enlarged, papyraceous, especially on the knees and elbows.	No	No
E5	Caregiver	Salvador	Santa Inês-Ba	Hospital 1	Ehlers-Danlos Syndrome	MPS is part of the inborn errors of metabolism (IEM) group. They are caused by the deficiency of specific lysosomal enzymes, which affect the catabolism of glycosaminoglycans. MPS standard features include progressive thickening of features, corneal opacification, recurrent airway infection, liver and spleen enlargement, valvular heart disease, joint stiffness/abnormalities, and growth alterations, among others.	No	No
E6	Caregiver	Salvador	Salvador-Ba	Hospital 1	MPS6	It is an autosomal dominant disease that affects the connective tissue, responsible for strengthening body structures. It usually affects the heart, eyes, blood vessels and skeleton.	No	Yes
E7	Caregiver	Salvador	Salvador-Ba	Hospital 1	Marfan Syndrome (Suspected)	-	Yes	No
E8	Caregiver	Salvador	Salvador-Ba	Hospital 1	Diagnosis not available	Idem MPS	No	No
E9	Caregiver	Salvador	Lauro de Freitas-Ba	Hospital 1	MPS1	Idem MPS	No	Yes
E10	Caregiver	Rio de Janeiro	Rio de Janeiro-Rj	Hospital 2	MPS	Idem MPS	No	No
E11	Caregiver	Rio de Janeiro	Rio de Janeiro-Rj	Hospital 2	MPS	-	Yes	Yes
E12	Caregiver	Rio de Janeiro	Nova Iguaçu-Rj	Hospital 2	Diagnosis not available	It is a genetic disease that causes abnormal skeletal growth, leaving the individual 20% below the normal range of other individuals his/her age or below the average of the general population.	No	No
E13	Caregiver	Rio de Janeiro	Rio de Janeiro-Rj	Hospital 2	Stunting (no specific diagnosis)	-	No	No
E14	Caregiver	Rio de Janeiro	Miraí-Rj	Hospital 2	Diagnosis not available	CF is a multisystemic genetic disease with an autosomal recessive inheritance that affects the epithelium of the respiratory tract, pancreas, intestine, hepatic biliary system, sweat glands and male deferent ducts.	No	Yes
E15	Caregiver	Rio de Janeiro	Rio de Janeiro-Rj	Hospital 2	Cystic fibrosis	Idem CF	No	Yes
E16	Caregiver	Rio de Janeiro	Campos dos Goytacazes-Rj	Hospital 2	Cystic fibrosis	Idem CF	Yes	No
E17	Patient	Rio de Janeiro	Rio de Janeiro-Rj	Hospital 2	Cystic fibrosis	Idem CF	Yes	No
E18	Caregiver	Rio de Janeiro	Belford Roxo-Rj	Hospital 2	Cystic fibrosis	Idem MPS	No	No
E19	Patient	Porto Alegre	Gravataí - RS	Hospital 3	MPS1	It is a disease also called hepatorenal tyrosinemia caused by the deficiency of the enzyme Fumarylacetoacetate hydrolase. It is a hereditary metabolic disease of an autosomal recessive inheritance pattern.	No	Yes
E20	Caregiver	Porto Alegre	Jaraguá do Sul - SC	Hospital 3	Tyrosinemia	Idem MPS	No	Yes
E21	Caregiver	Porto Alegre	São Leopoldo - RS	Hospital 3	MPS4	Idem MPS	No	Yes
E22	Caregiver	Porto Alegre	Santo Antônio da Patrulha - RS	Hospital 3	MPS4	Gaucher disease (GD) is the most frequent lysosomal disease. Hepatosplenomegaly, anemia, thrombocytopenia, bone pain, osteopenia and growth retardation are the most common clinical manifestations	No	Yes
E23	Patient	Porto Alegre	Porto Alegre	Hospital 3	Gaucher disease	Idem GD	Yes	Yes
E24	Patient	Porto Alegre	Porto Alegre	Hospital 3	Gaucher disease	Idem DG	Yes	No
E25	Caregiver	Porto Alegre	Porto Alegre (veio de Pernambuco)	Hospital 3	Maple syrup urine disease (MSUD)	The Maple Syrup Urine Disease (MSUD), also known as Leucinosis, is an Inborn Error of Metabolism caused by the deficiency of thiamine-dependent branched-chain α-ketoacid dehydrogenase complex (BCKDC) activity. The accumulation of these amino acids mainly affects the central nervous system (CNS).	No	Yes
E26	Caregiver	Porto Alegre	Boa Vista do Buricá - RS	Hospital 3	Phenylketonuria	Idem CF	No	No
E27	Caregivers	Porto Alegre	Canoas - RS	Hospital 3	Tyrosinemia type 1	Idem Tyrosinemia	No	Yes
E28	Caregiver	Porto Alegre	São Leopoldo - RS	Hospital 3	Niemann-Pick disease (Type B)	The Niemann-Pick disease consists of a group of sporadic genetic syndromes that are inherited within the same family and that cause lipid accumulation in some organs such as the brain, spleen or liver, for example. Type B is a less severe form of type A that allows survival to adulthood.	Yes	No

Professional	City	Professional qualification/employment contract	Specialty
P1	Salvador	Doctor/Professor	Geneticist
P2	Salvador	Biologist/Researcher	-
P3	Salvador	Doctor	Geneticist
P4	Salvador	Doctor	Geneticist
P5	Salvador	Doctor/Professor	Endocrinologist
P6	Salvador	Doctor	Geneticist
P7	Salvador	Doctor	Neurologist
P8	Salvador	Psychologist	-
P9	Salvador	Doctor	Geneticist
P10	Salvador	Doctor	Geneticist
P1	Rio de Janeiro	Doctor	Geneticist
P2	Rio de Janeiro	Doctor	Geneticist
P3	Rio de Janeiro	Nurse	-
P4	Rio de Janeiro	Psychologist	-
P5	Rio de Janeiro	Doctor	Geneticist
P6	Rio de Janeiro	Doctor	Neurologist
P7	Rio de Janeiro	Doctor	Geneticist
P8	Rio de Janeiro	Doctor	Geneticist
P1	Porto Alegre	Doctor	Geneticist and Biochemist
P2	Porto Alegre	Doctor	Geneticist
P3	Porto Alegre	Doctor	Geneticist and Clinical Pathology
P4	Porto Alegre	Doctor Resident	Geneticist and Pediatrician
P5	Porto Alegre	Doctor	Geneticist/Neurogeneticist
P6	Porto Alegre	Doctor/Professor	Geneticist
P7	Porto Alegre	Doctor Resident	Geneticist
P8	Porto Alegre	Nutritionist	Phenylketonuria
P9	Porto Alegre	Doctor/Professor	Geneticist
P10	Porto Alegre	Nurse	Childcare

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[1] Collaborations

JAB Iriart participated in the elaboration of the project, data collection and analysis and paper drafting. MF Nucci, T Muniz, GB Viana and WA Aureliano participated in data collection and analysis and paper drafting. S Gibbon participated in the elaboration of the project, data analysis and paper drafting.