Altered body as a source of interactional problems in the family of individuals with neurofibromatosis type 1 - A polish study.

backgroundNeurofibromatosis type 1 (NF1) is an autosomal dominant genetic disorder, whose clinical picture is dominated by visible body changes as well as numerous somatic and behavioural abnormalities.

aimThe aim of the study was to explore the ways in which the individual experiences NF1 in everyday life, with particular emphasis on the impact of the altered body on family interactions, in addition to the personal and social identity of individuals with NF1.

methodsA qualitative study was performed using individual in-depth interviews with 93 individuals with NF1 (median age: 36.69; range: 18 to 64; 26% males).

resultsBody changes caused by NF1 determine the specificity of social interactions in the families of the sick. The strength and direction of the impact of body changes on social interactions depends on their type (visibility, invisibility), as well as the meanings given to them. The visibility of disease lesions triggers an attitude of excessive control and stigmatization in the family, especially on the part of the mothers of individuals with NF1, and prompts a tendency to define the individual through the prism of the disease and its bodily manifestations. In turn, the lack of visibility of disease symptoms gives rise to, especially on the part of the fathers of the sick, opposing attitudes of disease denial, normalization of its symptoms and a tendency to question the disease identity of individuals with NF1. The great intensity of interactional problems concerns especially those families in which NF1 was transmitted through inheritance, and family members blame each other for the disease. This leads to repression and denial of the disease, excluding it from the scope of issues discussed in the family, which is an attempt to avoid the attribution of blame for the disease.

conclusionsThe body changes resulting from NF1 have social consequences that are of critical importance in the lives of the sick. The impact of NF1 on family interactions depends on the ways in which the disease is understood by the sick individual and his or her family members. The obtained patient-driven data constitute a convenient starting point for designing personalized interventions supporting individuals with NF1 and their families.