(Not) "just your nature". Diagnostic journeys of adults with neurofibromatosis type 1 in Poland.

ABSTRACT:

Background

Neurofibromatosis type 1 (NF1) is a rare autosomal dominant disorder that presents complex physical, emotional, and social challenges. Despite clear diagnostic criteria, NF1 is often diagnosed late due to vague early symptoms, everyday or non-medical interpretations of early signs, and limited access to specialists and genetic testing. This study explores how individuals with NF1 experience the diagnostic process in this context.

Methods

Ninety-three adults with medically confirmed NF1 participated in in-depth interviews conducted between August 1 and 31 December 2020. Data were analyzed using reflexive thematic analysis, following Braun and Clarke's six-phase framework to explore patterns in participants' experiences and meaning-making related to diagnosis.

Re

SUBMITTER: Kowal K 

PROVIDER: S-EPMC12818789 | biostudies-literature | 2025

REPOSITORIES: biostudies-literature