Narratives about some aspects of individuals’ experience with type 1 Gaucher Disease

Abstract

Introduction: Gaucher Disease is a rare, chronic and genetically inherited metabolic disorder featured by deficiency of glucocerebrosidase enzyme in the body. It leads to hematological, visceral and bone issues in patients, whose illness-related experiences remain poorly addressed in the scientific literature. Objective: Presenting and analyzing some aspects of patients’ experience with type 1 Gaucher Disease based on their narratives. Method: Nine individuals with type 1 Gaucher Disease were approached through the snowball technique and interviewed based on a semi-structured script at their homes, in different cities near Campinas County (SP). Respondents’ answers were understood as brief narratives, and their content was subjected to Thematic Analysis. Results: Participants presented different perceptions about Gaucher Disease and about the enzyme replacement treatment, which sometimes was understood as almost harmless (described as “detergent” or “non-remedy”), and sometimes as very powerful and capable of affecting the body more than the disease itself. Although patients oftentimes complied with treatment, this practice was not exactly “adherence”, it was rather an attitude of “compliance” with biomedical knowledge. Conclusion: The difficulty in understanding highly-complex scientific information about Gaucher Disease, which is different from the information about other mostly prevalent diseases, makes this illness-related experience featured by constant reinterpretations of biomedical information, and by patients´ difficulty in developing more autonomous and enlightened attitudes about this disease and its treatments.