How do people with neurofibromatosis type 1 (the forgotten victims) live? A grounded theory study

BACKGROUND: Neurofibromatosis type I (NF1) is a rare genetic disorder, associated with some physical symptoms including spots and tiny bumps on the skin, and internal organ involvement. People suffering from neurofibromatosis face various challenges in their daily lives. However, there is little understanding on how patients deal with neurofibromatosis. This study aimed to investigate the life challenges of patients with NF1. METHODS: This qualitative study was performed by implementing a grounded theory with the cooperation of the Society for Neurofibromatosis Patients over the course of 15 months in 2019 across 4 provinces in Iran. Twenty‐four patients with NF1 were interviewed. An analysis was performed using the constant comparative method. FINDINGS: The results of the analyses indicated that the major concern of the NF1 patients was feelings of failure and falling behind in life. In the face of failure in life in such a context, patients used the main strategy of “unsuccessful struggle to escape” the disease and its complications, which was represented itself in the forms of ‘hopelessness and impatience’, ‘suicidal thoughts and unsuccessful suicide attempts’, ‘isolation and seclusion’, ‘expressing complaints and grievances to God’, ‘hiding the disease’ and ‘hopelessness and refusing to receive care’. The implementation of such strategies helped patients reduce tension and achieve a temporary, though vulnerable and fragile, sense of relief and peace. CONCLUSION: Given an unfavourable life condition, NF1 patients turned to a harmful passive strategy in the face of the challenges posed by the disease. PATIENT OR PUBLIC CONTRIBUTION: Public contributors were active partners throughout, and co‐authored the paper.