Mucopolysaccharidoses from the perspective of patients and family members

Abstract

The aim of this study was to understand the impacts of mucopolysaccharidoses (MPS), a group of hereditary metabolic diseases with a chronic and progressive course, on children diagnosed with this condition and their family members. It is a qualitative research conducted with six children and five accompanying family members who attend the Reference Center for Inborn Errors of Metabolism (CETREIM). Data collection occurred through sociodemographic questionnaires and semi-structured individual interviews, recorded in audio and subsequently submitted to Content Analysis technique. The results indicate the presence of three main thematic axes: 1) Discovery and understanding of the diagnosis; 2) Repercussions and consequences of illness; 3) Coping strategies. The results highlight the ways in which children and family members define, interpret, and take positions regarding this diagnosis, indicating reverberations in the social and psychological spheres of different orders in these two groups, emphasizing that the rupture with normality permeates the condition of subject and identity, being marked by the repercussions of the disease and diagnosis.