How the Perception of Being a Neurofibromatosis Carrier Affects Nursing Care

Abstract

Neurofibromatosis type 1 is an autosomal genetic syndrome found frequently in humans. Characterized by the growth of benign tumors of the nervous system, it can occur in any part of the body. Objectives: identify the perception of a patient with neurofibromatosis as a carrier of the disease, analyze the factors that intervene in the patient’s personal or professional life, based on his/her accounts, and discuss the implications those perceptions have for nursing care. This is a qualitative descriptive exploratory study conducted at the Neurofibromatosis Mutual Support Unit, which is associated with the National Center for Fibromatosis in Río de Janeiro. The data were collected in 2008 through semi-structured interviews of eight patients, all over 18 years of age. A main category and five sub-categories were established on the basis of the analysis. It was concluded that perceptions generate daily concerns of a social, emotional, esthetic, physical and educational nature that lead the carrier to experience conflicts involving internal and social exclusion due to a lack of information about the disease. It is suggested that other studies be done and an investment be made in educational-informative processes for carriers and society, along with training that would enable health professionals to offer counseling and correct diagnoses. This would improve the quality of life for carriers and aid their integration into society.