Conviver com a incerteza relacionada com a doença neurodegenerativa hereditária: um estudo etnográfico / Living with uncertainty related to hereditary neurodegenerative disease: an ethnographical study

ABSTRACT

Introduction and Objectives: Familial Amyloidotic Polyneuropathy is an autosomal dominant disease and threatens the life of the gene carrier by extracellular deposition of transtirretin in the peripheral nervous system. This paper aims to describe how people living with Familial Amyloidotic Polyneuropathy experience the transition and uncertainty arising from the knowledge of the outcome of the pre-symptomatic genetic test. Methodology: focused ethnography study conducted in the community of Vila do Conde and Póvoa de Varzim. Data collection was performed through ethnographic interview to 31 patients. The collected data were verbatim transcribed and analyzed according to the qualitative data analysis procedures. Results and Discussion: Data have been narrowed into four categories that illustrate how people with Familial Amyloidotic Polyneuropathy, on the one hand, feel and live the uncertainty of the disease, and on the other hand explain the resources and conditions they must have to deal with this uncertainty. Thus, we have as categories, perform the presymptomatic test, personal conditions for transition, community conditions for transition and conditions of society for transition. The management of disease uncertainty is mediated by previous knowledge about a certain health condition, because it affects several generations of the same family, previous knowledge about the risk condition contributes to the acceptance of health status. Conclusions: It is important that nurses promote strategies that increase social and family support and assume as credible authorities in caring for people living with Andrade's disease, becoming facilitators of their personal growth and uncertainty management

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