ArticleOrphanet journal of rare diseases2026
"Let it be as it is": between shock and acceptance - emotional, identity, and cognitive responses to the diagnosis of neurofibromatosis type1.
Article in Orphanet journal of rare diseases, 2026. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.
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Abstract
backgroundNeurofibromatosis type 1 (NF1) is a rare genetic condition characterised by visible symptoms, clinical uncertainty, and psychosocial complexity. The experience of diagnosis often represents a key turning point that shapes personal identity, relationships, and perceptions of the body. However, little is known about how individuals make sense of and emotionally respond to receiving an NF1 diagnosis. This study aimed to explore the cognitive, emotional, and identity-related dimensions of the diagnostic experience among people living with NF1 in Poland. A qualitative study was conducted using semi-structured, in-depth interviews with 93 adults diagnosed with NF1, and the data were analysed using Reflexive Thematic Analysis.
resultsThe findings indicate that receiving an NF1 diagnosis is not a single clinical event but an evolving identity process shaped by time, personal history, and social context. Participants' reactions to diagnosis varied depending on the diagnostic context and communication process. Four main patterns of response were generated: (1) lack of emotional reaction, relief, and acceptance of the diagnosis; (2) search for knowledge and active engagement with information; (3) denial, minimisation, and emotional distance; and (4) emotional crisis, somatic anxiety, and existential disorientation. The diagnosis also acted as a catalyst for redefining life, the body, and everyday experience, expressed through heightened bodily awareness and a reordering of life priorities, values, and relationships. Together, these themes demonstrate that the NF1 diagnosis functions both as a crisis and a transformative opportunity. It simultaneously confirms embodied experiences and challenges established self-concepts, prompting reflection, self-awareness, and biographical reorientation.
conclusionsThe study highlights the importance of timely psychosocial support, empathetic and clear communication, and family-centred care in the diagnostic process. Understanding the emotional and identity-related responses to diagnosis may inform more holistic clinical practices and improve the quality of care for individuals and families affected by NF1.
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