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

This study emphasizes the need for earlier NF1 recognition through enhanced clinician awareness, better diagnostic coordination, and access to genetic and psychosocial support. It also highlights the role of patient agency and the emotional cost of delayed diagnosis in rare diseases. These findings point to several actionable priorities, including the need to strengthen NF1-specific training for primary care physicians, implement clearer referral pathways, and expand access to genetic counselling and psychosocial support.