A qualitative approach to life with neurofibromatosis type 1 based on Mishel's Uncertainty in Illness Theory: “My body is a ticking time bomb”

Neurofibromatosis type 1 (NF1) is a genetic disease that follows an autosomal dominant inheritance pattern, characterized by significant phenotypic variability and unpredictable clinical progression. Affected individuals can present from mild cosmetic involvement with café-au-lait macules to benign and malignant neoplasms, among other comorbidities that can diminish well-being or pose a threat to it. The transmission risk is 50%, and it is impossible to predict the extent of manifestations in the offspring. This qualitative study explored emotional and psychological meanings attributed by individuals with NF1 to their experience, based on Mishel's Uncertainty in Illness Theory. Thirty-eight Brazilian adults with NF1 responded to a self-reported online questionnaire. In it, sociodemographic information was collected, an NF1 visibility assessment scale and the Brazilian version of the NF1 Impact on Quality of Life (INF1-QoL) questionnaire were administered. Finally, three open-ended questions were asked about the impact of the disease on individuals' lives: the first regarding the influence of NF1 on the participant's life in general, the second about NF1 in different life stages, and the third about their experience of health monitoring. Qualitative content analysis was used to investigate the corpus. Fifteen main categories were identified, which align with Mishel's theory and contribute to comprehending uncertainty in NF1, manifested primarily regarding the disease progression in the individual, reproductive planning, and distress about the future of already affected children. This deeper understanding of the NF1 experience and associated uncertainty can enhance the cultural competence of genetic counselors and contribute to more effective clinical approaches and interventions.