Lived experiences of neurofibromatosis type 1 patients: Social life, stigma, and intervention strategies

Abstract

Neurofibromatosis type 1 (NF1) is a neurogenetic disorder associated with visual-spatial problems, executive dysfunction, and language deficits, making patients experience social isolation, stigma, anxiety, and depression. Here, we explored NF1 patients’ lived experiences by conducting semi-structured, in-depth interviews with 21 NF1 patients and 16 care providers. The thematic analysis uncovered dimensions of NF1 patients’ social lives at different ecological levels, including their relationships with family, friends, teachers, coworkers, providers, and society. Positive dimensions of NF1 patients’ social life (e.g. familial support and sacrifice, responsibility, and self-sufficiency, supportive friends, and professors) counter negative dimensions (e.g. the vulnerability in sexual relationships, social interactions, discriminatory professors, misconceptions about abilities, appearance bias, internalized and social stigma, violence, and low self-esteem). Adaptive strategies used or suggested by NF1 patients at personal (e.g. supportive network, positive reframing, acceptance of their bodies) and social levels (e.g. psychological support, group therapy, public awareness, and governmental support) were identified.