Genetic disease in the family: trajectories and experiences in public health services

Laura Helena Gerber Franciscatto,Keterlin Salvador,Alessandro Marques Dos Santos,Mara Regina Santos Da Silva,Adriane Maria Netto De Oliveira

doi:10.1590/2177-9465-ean-2019-0128

Abstract

Abstract Objective: To identify the trajectories and experiences of families of children with genetic diseases in health services. Method: A qualitative study, with data collected through interviews with 15 families and caregivers of children with Genetic Disease, living in the northern region of Rio Grande do Sul. Interviews were conducted from March to May 2018. Data analysis was based on thematic analysis. Results: A genetic disease diagnosis led to families' changes due to the demands of treatment, and also the needs of the child for being met by health services. To access specialized services, some families needed to travel to referral centers in larger cities. Families experienced difficulties such as unprepared health professionals, lack of organization of services, judicialization of resources, and need for structured Health Care Networks. Conclusion: The professional has the fundamental role of providing families with access to information and are responsible for decision making and for the organization and management of health and nursing services to meet the demands imposed on the individual and the family by the genetic disease.

Highlights

Around 7.6 million children worldwide are born each year with genetic and congenital malformations, of which 90% are in low- and middle-income countries
The professional has the fundamental role of providing families with access to information and are responsible for decision making and for the organization and management of health and nursing services to meet the demands imposed on the individual and the family by the genetic disease
Diagnostic and therapeutic journey This theme addresses the trajectory of families since the moment in which the child manifests the first signs and symptoms and throughout their search for the first health service, the confirmation of the diagnosis and the search for specialized services in Genetic diseases (GDs)

Summary

Introduction

Around 7.6 million children worldwide are born each year with genetic and congenital malformations, of which 90% are in low- and middle-income countries. In developed countries, these diseases are the second leading cause of child mortality in children under one year of age, with a prevalence of 25 - 60 per 1,000 births.[1,2]. Congenital and genetic disorder have become relevant for public health as they account for 20% of deaths in children under one year old, exceeding the total sum of the third and fourth causes of death, which are respectively related to respiratory and infectious diseases. The family is not prepared for the diagnosis of a long-term and incurable disease in one of its members.[3]

Methods

Results

Discussion

Conclusion