Living with Neurofibromatosis type 1: a qualitative approach based on Mishel's uncertainty in illness theory

• Grant number: 22/13106-0
• Support Opportunities: Scholarships in Brazil - Scientific Initiation
• Start date: March 01, 2023
• End date: February 29, 2024
• Field of knowledge: Biological Sciences - Genetics - Human and Medical Genetics
• Principal Investigator: Débora Gusmão Melo
• Grantee: Roberta Teixeira de Moraes
• Host Institution: Centro de Ciências Biológicas e da Saúde (CCBS). Universidade Federal de São Carlos (UFSCAR). São Carlos , SP, Brazil

Abstract

Introduction: Neurofibromatosis type 1 is a rare genetic disorder with autosomal dominant inheritance, marked by great phenotypic variability and unpredictable disease progression in a way that the affected individual's presentation can range from a few café-au-lait spots to benign and malignant neoplasms, among other comorbidities. The risk of transmission to offspring is 50%. The illness experience is characterized by uncertainty, so Mishel's Uncertainty in Illness Theory can be utilized to explain the experience of living with NF1. Understanding such phenomena potentializes the healthcare professional's competence as a genetic counselor, emphasizing the clinical, scientific, and social relevance of this knowledge.Aim: To explore and interpret emotional/psychological meanings given/attributed by individuals with NF1, considering Mishel's uncertainty in illness theory.Methods: This project represents the continuity of previous research, developed by our group, that aimed to accomplish the cross-cultural adaptation and psychometric properties evaluation of the Impact of NF1 on Quality of Life (INF1-QoL) questionnaire. In this second stage, a research with qualitative methodology will be conducted. One hundred thirty-four individuals with NF1, participants of the previous study, will be invited to join it. Data collection will be accomplished through self-administered online forms with sociodemographic questions, the NF1 visibility self-evaluation scale, the INF1-QoL questionnaire, and three open questions about the impact of NF1 on the individual's life. The reports will be transcribed and will compose the corpus, investigated through a theme/category-based content analysis technique. Results will be examined and discussed with help from literature and the researchers' clinic experience, through a comprehensive and interpretative approach of dialectic-hermeneutic nature.Expected results: It is intended to discuss how a better understanding of the uncertainty phenomenon can aid in the genetic counseling process of people with NF1, thus contributing to the health assistance provided to people with NF1 and their families.