{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,8,25]],"date-time":"2026-08-25T13:23:24Z","timestamp":1787664204172,"version":"build-2736575974"},"reference-count":72,"publisher":"Springer Science and Business Media LLC","issue":"1","license":[{"start":{"date-parts":[[2026,6,12]],"date-time":"2026-06-12T00:00:00Z","timestamp":1781222400000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0"},{"start":{"date-parts":[[2026,8,25]],"date-time":"2026-08-25T00:00:00Z","timestamp":1787616000000},"content-version":"vor","delay-in-days":74,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0"}],"funder":[{"DOI":"10.13039\/501100004281","name":"Narodowe Centrum Nauki","doi-asserted-by":"publisher","award":["2019\/03\/X\/HS6\/01173"],"award-info":[{"award-number":["2019\/03\/X\/HS6\/01173"]}],"id":[{"id":"10.13039\/501100004281","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["link.springer.com"],"crossmark-restriction":false},"short-container-title":["Orphanet J Rare Dis"],"abstract":"<jats:title>Abstract<\/jats:title>\n                  <jats:sec>\n                    <jats:title>Background<\/jats:title>\n                    <jats:p>Neurofibromatosis 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.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Results<\/jats:title>\n                    <jats:p>The 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\u2019 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.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Conclusions<\/jats:title>\n                    <jats:p>The 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.<\/jats:p>\n                  <\/jats:sec>","DOI":"10.1186\/s13023-026-04428-w","type":"journal-article","created":{"date-parts":[[2026,6,12]],"date-time":"2026-06-12T16:34:02Z","timestamp":1781282042000},"update-policy":"https:\/\/doi.org\/10.1007\/springer_crossmark_policy","source":"Crossref","is-referenced-by-count":0,"title":["\u201cLet it be as it is\u201d: between shock and acceptance - emotional, identity, and cognitive responses to the diagnosis of neurofibromatosis type1"],"prefix":"10.1186","volume":"21","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-8228-1736","authenticated-orcid":false,"given":"Katarzyna","family":"Kowal","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jan","family":"Domaradzki","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"297","published-online":{"date-parts":[[2026,6,12]]},"reference":[{"key":"4428_CR1","unstructured":"Friedman JM. Neurofibromatosis 1. In: Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Amemiya A, editors. GeneReviews\u00ae [Internet]. Seattle (WA): University of Washington, Seattle; 1993\u20132025. Available from: http:\/\/www.ncbi.nlm.nih.gov\/books\/NBK1109\/. Accessed 9 Sept 2025."},{"key":"4428_CR2","doi-asserted-by":"publisher","first-page":"10","DOI":"10.1002\/gcc.22997","volume":"61","author":"M Riva","year":"2022","unstructured":"Riva M, Martorana D, Uliana V, Caleffi E, Boschi E, Garavelli L, et al. Recurrent NF1 gene variants and their genotype\/phenotype correlations in patients with Neurofibromatosis type I. Genes Chromosomes Cancer. 2022;61:10\u201321. https:\/\/doi.org\/10.1002\/gcc.22997.","journal-title":"Genes Chromosomes Cancer"},{"key":"4428_CR3","doi-asserted-by":"publisher","first-page":"e286","DOI":"10.5114\/pjr\/203005","volume":"90","author":"Z Serafin","year":"2025","unstructured":"Serafin Z, Machnikowska-Soko\u0142owska M, Zawada E, Bekiesi\u0144ska-Figatowska M, Ha\u0142abuda A, Bladowska M, et al. Recommendations of the Polish Medical Radiological Society regarding MRI in patients with plexiform neurofibromas in the course of neurofibromatosis type 1. Pol J Radiol. 2025;90:e286\u201391. https:\/\/doi.org\/10.5114\/pjr\/203005.","journal-title":"Pol J Radiol"},{"key":"4428_CR4","doi-asserted-by":"publisher","first-page":"13","DOI":"10.1186\/s40246-017-0109-3","volume":"11","author":"C Philpott","year":"2017","unstructured":"Philpott C, Tovell H, Frayling IM, Cooper DN, Upadhyaya M. The NF1 somatic mutational landscape in sporadic human cancers. Hum Genomics. 2017;11:13. https:\/\/doi.org\/10.1186\/s40246-017-0109-3.","journal-title":"Hum Genomics"},{"key":"4428_CR5","doi-asserted-by":"publisher","first-page":"100223","DOI":"10.1016\/j.esmoop.2021.100223","volume":"6","author":"I Solares","year":"2021","unstructured":"Solares I, Vi\u00f1al D, Morales-Conejo M, Rodriguez-Salas N, Feliu J. Novel molecular targeted therapies for patients with neurofibromatosis type 1 with inoperable plexiform neurofibromas: a comprehensive review. ESMO Open. 2021;6:100223. https:\/\/doi.org\/10.1016\/j.esmoop.2021.100223.","journal-title":"ESMO Open"},{"key":"4428_CR6","doi-asserted-by":"publisher","first-page":"706","DOI":"10.1007\/s11912-024-01527-4","volume":"26","author":"B Na","year":"2024","unstructured":"Na B, Shah SR, Vasudevan HN. Past, Present, and Future Therapeutic Strategies for NF-1-Associated Tumors. Curr Oncol Rep. 2024;26:706\u201313. https:\/\/doi.org\/10.1007\/s11912-024-01527-4.","journal-title":"Curr Oncol Rep"},{"key":"4428_CR7","doi-asserted-by":"publisher","first-page":"2408","DOI":"10.1016\/j.jid.2023.04.034","volume":"143","author":"E Diaz","year":"2023","unstructured":"Diaz E, Bergqvist C, Peiffer B, Fertitta L, Jannic A, Ferkal S, et al. In-Hospital Clinical Features, Morbidity, and Mortality of Patients with Neurofibromatosis 1 in France: A Nationwide, Population-Based Retrospective Cohort Study. J Invest Dermatol. 2023;143:2408\u2013e24157. https:\/\/doi.org\/10.1016\/j.jid.2023.04.034.","journal-title":"J Invest Dermatol"},{"key":"4428_CR8","doi-asserted-by":"publisher","first-page":"101654","DOI":"10.1016\/j.gim.2025.101654","volume":"28","author":"MA Doherty","year":"2026","unstructured":"Doherty MA, Grell K, Hove H, Handrup MM, \u00d8stergaard JR, Kr\u00f8yer A, et al. Nonneoplastic causes of death in neurofibromatosis 1: A cohort study with long-term follow-up. Genet Med. 2026;28:101654. https:\/\/doi.org\/10.1016\/j.gim.2025.101654.","journal-title":"Genet Med"},{"key":"4428_CR9","doi-asserted-by":"publisher","first-page":"adv43416","DOI":"10.2340\/actadv.v105.43416","volume":"105","author":"M Kim","year":"2025","unstructured":"Kim M, Han S, Choi CW, Kim BR, Youn SW. Hospital Use, Morbidity, and Cancer Risk by Age Group in Neurofibromatosis Type 1: A Nationwide Retrospective Cohort Study. Acta Dermato-Venereologica. 2025;105:adv43416\u201343416. https:\/\/doi.org\/10.2340\/actadv.v105.43416.","journal-title":"Acta Dermato-Venereologica"},{"key":"4428_CR10","doi-asserted-by":"crossref","unstructured":"Neurofibromatosis. Conference statement. National Institutes of Health Consensus Development Conference. Arch Neurol. 1988;45:575\u20138.","DOI":"10.1001\/archneur.1988.00520290115023"},{"key":"4428_CR11","doi-asserted-by":"publisher","first-page":"1506","DOI":"10.1038\/s41436-021-01170-5","volume":"23","author":"E Legius","year":"2021","unstructured":"Legius E, Messiaen L, Wolkenstein P, Pancza P, Avery RA, Berman Y, et al. Revised diagnostic criteria for neurofibromatosis type 1 and Legius syndrome: an international consensus recommendation. Genet Med. 2021;23:1506\u201313. https:\/\/doi.org\/10.1038\/s41436-021-01170-5.","journal-title":"Genet Med"},{"key":"4428_CR12","doi-asserted-by":"publisher","first-page":"1967","DOI":"10.1016\/j.gim.2022.05.007","volume":"24","author":"SR Plotkin","year":"2022","unstructured":"Plotkin SR, Messiaen L, Legius E, Pancza P, Avery RA, Blakeley JO, et al. Updated diagnostic criteria and nomenclature for neurofibromatosis type 2 and schwannomatosis: An international consensus recommendation. Genet Med. 2022;24:1967\u201377. https:\/\/doi.org\/10.1016\/j.gim.2022.05.007.","journal-title":"Genet Med"},{"key":"4428_CR13","doi-asserted-by":"publisher","first-page":"177","DOI":"10.1007\/s00439-021-02410-z","volume":"141","author":"H Kehrer-Sawatzki","year":"2022","unstructured":"Kehrer-Sawatzki H, Cooper DN. Challenges in the diagnosis of neurofibromatosis type 1 (NF1) in young children facilitated by means of revised diagnostic criteria including genetic testing for pathogenic NF1 gene variants. Hum Genet. 2022;141:177\u201391. https:\/\/doi.org\/10.1007\/s00439-021-02410-z.","journal-title":"Hum Genet"},{"key":"4428_CR14","doi-asserted-by":"publisher","first-page":"1050","DOI":"10.1007\/s00117-022-01059-7","volume":"62","author":"R Anders","year":"2022","unstructured":"Anders R, Hirsch FW, Roth C. [Neurofibromatosis type 1: From diagnosis to follow-up]. Radiol (Heidelb). 2022;62:1050\u20137. https:\/\/doi.org\/10.1007\/s00117-022-01059-7.","journal-title":"Radiol (Heidelb)"},{"key":"4428_CR15","doi-asserted-by":"publisher","first-page":"409","DOI":"10.1080\/14737175.2024.2324117","volume":"24","author":"N Kerashvili","year":"2024","unstructured":"Kerashvili N, Gutmann DH. The management of neurofibromatosis type 1 (NF1) in children and adolescents. Expert Rev Neurother. 2024;24:409\u201320. https:\/\/doi.org\/10.1080\/14737175.2024.2324117.","journal-title":"Expert Rev Neurother"},{"key":"4428_CR16","doi-asserted-by":"publisher","first-page":"2584","DOI":"10.1002\/ajmg.a.62890","volume":"188","author":"WY Ho","year":"2022","unstructured":"Ho WY, Farrelly E, Stevenson DA. Evaluation of the impact of the 2021 revised Neurofibromatosis type 1 diagnostic criteria on time to diagnosis. Am J Med Genet A. 2022;188:2584\u20139. https:\/\/doi.org\/10.1002\/ajmg.a.62890.","journal-title":"Am J Med Genet A"},{"key":"4428_CR17","doi-asserted-by":"publisher","first-page":"140","DOI":"10.5114\/wo.2020.97637","volume":"24","author":"MW Karwacki","year":"2020","unstructured":"Karwacki MW. Breast cancer risk (un)awareness among women suffering from neurofibromatosis type 1 in Poland. Contemp Oncol (Pozn). 2020;24:140\u20134. https:\/\/doi.org\/10.5114\/wo.2020.97637.","journal-title":"Contemp Oncol (Pozn)"},{"key":"4428_CR18","doi-asserted-by":"publisher","first-page":"1221","DOI":"10.5114\/aoms.2019.85143","volume":"17","author":"MW Karwacki","year":"2021","unstructured":"Karwacki MW, Wysocki M, Perek-Polnik M, Jatczak-Gaca A. Coordinated medical care for children with neurofibromatosis type 1 and related RASopathies in Poland. Arch Med Sci. 2021;17:1221\u201331. https:\/\/doi.org\/10.5114\/aoms.2019.85143.","journal-title":"Arch Med Sci"},{"key":"4428_CR19","doi-asserted-by":"publisher","first-page":"19","DOI":"10.5603\/njo.103614","volume":"75","author":"MW Karwacki","year":"2025","unstructured":"Karwacki MW. Coordinated medical care program for neurofibromatosis type 1 children and youth in Poland influences the future of their affected parents as well \u2014 a single academic reference center experience and national program description. Nowotwory J Oncol. 2025;75:19\u201328. https:\/\/doi.org\/10.5603\/njo.103614.","journal-title":"Nowotwory J Oncol"},{"key":"4428_CR20","volume-title":"Living with genetic disorder: the impact of neurofibromatosis 1","author":"J Ablon","year":"1999","unstructured":"Ablon J. Living with genetic disorder: the impact of neurofibromatosis 1. Westport, Conn: Auburn House; 1999."},{"key":"4428_CR21","doi-asserted-by":"publisher","first-page":"T187","DOI":"10.1016\/j.ad.2022.10.043","volume":"114","author":"FJ Garc\u00eda-Mart\u00ednez","year":"2023","unstructured":"Garc\u00eda-Mart\u00ednez FJ, Hern\u00e1ndez-Mart\u00edn A. [Translated article] Neurofibromatosis Type 1: Diagnostic Timelines in Children. Actas Dermosifiliogr. 2023;114:T187\u201393. https:\/\/doi.org\/10.1016\/j.ad.2022.10.043.","journal-title":"Actas Dermosifiliogr"},{"key":"4428_CR22","doi-asserted-by":"publisher","first-page":"e0310501","DOI":"10.1371\/journal.pone.0310501","volume":"19","author":"K Kowal","year":"2024","unstructured":"Kowal K, Skrzypek M. Altered body as a source of interactional problems in the family of individuals with neurofibromatosis type 1 - A polish study. PLoS ONE. 2024;19:e0310501. https:\/\/doi.org\/10.1371\/journal.pone.0310501.","journal-title":"PLoS ONE"},{"key":"4428_CR23","doi-asserted-by":"publisher","first-page":"285","DOI":"10.1080\/1463677042000305057","volume":"23","author":"C Hauskeller","year":"2004","unstructured":"Hauskeller C. Genes, genomes and identity. Projections on matter. New Genet Soc. 2004;23:285\u201399. https:\/\/doi.org\/10.1080\/1463677042000305057.","journal-title":"New Genet Soc"},{"key":"4428_CR24","doi-asserted-by":"publisher","DOI":"10.3389\/fgene.2024.1380637","author":"JM Adler","year":"2024","unstructured":"Adler JM, Hesse-Biber S, Seven M, Dwyer AA. Identity theft in BRCA1\/2: impact of positive genetic test results and risk-reducing interventions. Front Genet [Internet] Front. 2024. https:\/\/doi.org\/10.3389\/fgene.2024.1380637. [cited 2025 Oct 28];15.","journal-title":"Front Genet [Internet] Front"},{"key":"4428_CR25","doi-asserted-by":"publisher","first-page":"297","DOI":"10.1186\/s13023-024-03319-2","volume":"19","author":"C Phillips","year":"2024","unstructured":"Phillips C, Parkinson A, Namsrai T, Chalmers A, Dews C, Gregory D, et al. Time to diagnosis for a rare disease: managing medical uncertainty. A qualitative study. Orphanet J Rare Dis. 2024;19:297. https:\/\/doi.org\/10.1186\/s13023-024-03319-2.","journal-title":"Orphanet J Rare Dis"},{"key":"4428_CR26","doi-asserted-by":"publisher","first-page":"56","DOI":"10.1002\/ajmg.c.30161","volume":"148C","author":"A McConkie-Rosell","year":"2008","unstructured":"McConkie-Rosell A, Spiridigliozzi GA, Melvin E, Dawson DV, Lachiewicz AM. Living with Genetic Risk: Effect on Adolescent Self-Concept. Am J Med Genet C Semin Med Genet. 2008;148\u00a0C:56\u201369. https:\/\/doi.org\/10.1002\/ajmg.c.30161.","journal-title":"Am J Med Genet C Semin Med Genet"},{"key":"4428_CR27","doi-asserted-by":"publisher","first-page":"931","DOI":"10.1007\/s10897-015-9829-5","volume":"24","author":"HA Crawford","year":"2015","unstructured":"Crawford HA, Barton B, Wilson MJ, Berman Y, McKelvey-Martin VJ, Morrison PJ, et al. The Impact of Neurofibromatosis Type 1 on the Health and Wellbeing of Australian Adults. J Genet Couns. 2015;24:931\u201344. https:\/\/doi.org\/10.1007\/s10897-015-9829-5.","journal-title":"J Genet Couns"},{"key":"4428_CR28","doi-asserted-by":"publisher","first-page":"e0273295","DOI":"10.1371\/journal.pone.0273295","volume":"17","author":"K Kowal","year":"2022","unstructured":"Kowal K, Skrzypek M, Kocki J. Experiencing illness as a crisis by the caregivers of individuals with Prader-Willi Syndrome. PLoS ONE. 2022;17:e0273295. https:\/\/doi.org\/10.1371\/journal.pone.0273295.","journal-title":"PLoS ONE"},{"key":"4428_CR29","doi-asserted-by":"publisher","first-page":"531","DOI":"10.1186\/s13023-025-04061-z","volume":"20","author":"K Kowal","year":"2025","unstructured":"Kowal K, Domaradzki J. To have children or not? Between desire, responsibility, luck, and guilt: reproductive decision-making in individuals with neurofibromatosis type 1. Orphanet J Rare Dis. 2025;20:531. https:\/\/doi.org\/10.1186\/s13023-025-04061-z.","journal-title":"Orphanet J Rare Dis"},{"key":"4428_CR30","doi-asserted-by":"publisher","first-page":"233","DOI":"10.1186\/s13023-022-02358-x","volume":"17","author":"A Bauskis","year":"2022","unstructured":"Bauskis A, Strange C, Molster C, Fisher C. The diagnostic odyssey: insights from parents of children living with an undiagnosed condition. Orphanet J Rare Dis. 2022;17:233. https:\/\/doi.org\/10.1186\/s13023-022-02358-x.","journal-title":"Orphanet J Rare Dis"},{"key":"4428_CR31","doi-asserted-by":"publisher","first-page":"100022","DOI":"10.1016\/j.rare.2024.100022","volume":"2","author":"K Pavisich","year":"2024","unstructured":"Pavisich K, Jones H, Baynam G. The diagnostic odyssey for children living with a rare disease \u2013 Caregiver and patient perspectives: A narrative review with recommendations. Rare. 2024;2:100022. https:\/\/doi.org\/10.1016\/j.rare.2024.100022.","journal-title":"Rare"},{"key":"4428_CR32","doi-asserted-by":"publisher","unstructured":"Kowal K, Domaradzki J, editors. (Not) just your nature. Diagnostic journeys of adults with neurofibromatosis type 1 in Poland. Front Genet [Internet]. Frontiers; 2026 [cited 2026 Jan 20];16. https:\/\/doi.org\/10.3389\/fgene.2025.1713304.","DOI":"10.3389\/fgene.2025.1713304"},{"key":"4428_CR33","doi-asserted-by":"publisher","unstructured":"Braun V, Clarke V. Using thematic analysis in psychology. Qualitative Research in Psychology [Internet]. 2006 [cited 2025 Nov 19];3:77\u2013101. https:\/\/doi.org\/10.1191\/1478088706qp063oa.","DOI":"10.1191\/1478088706qp063oa"},{"key":"4428_CR34","doi-asserted-by":"publisher","unstructured":"Braun V, Clarke V. Reflecting on reflexive thematic analysis. Qualitative Research in Sport, Exercise and Health [Internet]. Routledge; 2019 [cited 2025 Nov 19];11:589\u201397. https:\/\/doi.org\/10.1080\/2159676X.2019.1628806.","DOI":"10.1080\/2159676X.2019.1628806"},{"key":"4428_CR35","doi-asserted-by":"publisher","first-page":"608","DOI":"10.1177\/02692163241234800","volume":"38","author":"V Braun","year":"2024","unstructured":"Braun V, Clarke V. Supporting best practice in reflexive thematic analysis reporting in Palliative Medicine: A review of published research and introduction to the Reflexive Thematic Analysis Reporting Guidelines (RTARG). Palliat Med. 2024;38:608\u201316. https:\/\/doi.org\/10.1177\/02692163241234800.","journal-title":"Palliat Med"},{"key":"4428_CR36","doi-asserted-by":"publisher","first-page":"349","DOI":"10.1093\/intqhc\/mzm042","volume":"19","author":"A Tong","year":"2007","unstructured":"Tong A, Sainsbury P, Craig J. Consolidated criteria for reporting qualitative research (COREQ): a 32-item checklist for interviews and focus groups. Int J Qual Health Care. 2007;19:349\u201357. https:\/\/doi.org\/10.1093\/intqhc\/mzm042.","journal-title":"Int J Qual Health Care"},{"key":"4428_CR37","doi-asserted-by":"publisher","unstructured":"Braun V, Clarke V, et al. How do you solve a problem like COREQ? A critique of Tong \u2019s (2007) consolidated criteria for reporting qualitative research. Methods Psychol [Internet]. 2024 [cited 2025 Nov 17];11:100155. https:\/\/doi.org\/10.1016\/j.metip.2024.100155.","DOI":"10.1016\/j.metip.2024.100155"},{"key":"4428_CR38","doi-asserted-by":"publisher","first-page":"520","DOI":"10.1038\/s41431-022-01054-5","volume":"30","author":"F Johnson","year":"2022","unstructured":"Johnson F, Ulph F, MacLeod R, Southern KW. Receiving results of uncertain clinical relevance from population genetic screening: systematic review & meta-synthesis of qualitative research. Eur J Hum Genet Nat Publishing Group. 2022;30:520\u201331. https:\/\/doi.org\/10.1038\/s41431-022-01054-5.","journal-title":"Eur J Hum Genet Nat Publishing Group"},{"key":"4428_CR39","doi-asserted-by":"publisher","first-page":"e13294","DOI":"10.1111\/cch.13294","volume":"50","author":"N Buckle","year":"2024","unstructured":"Buckle N, Rogers Y, O\u2019Toole D, McNulty S, Kroll T, Gibbs L, et al. A qualitative exploration of children\u2019s lives with rare diseases. Child Care Health Dev. 2024;50:e13294. https:\/\/doi.org\/10.1111\/cch.13294.","journal-title":"Child Care Health Dev"},{"key":"4428_CR40","doi-asserted-by":"publisher","first-page":"15","DOI":"10.1017\/S0098858800007917","volume":"17","author":"A Lippman","year":"1991","unstructured":"Lippman A. Prenatal genetic testing and screening: constructing needs and reinforcing inequities. Am J Law Med. 1991;17:15\u201350.","journal-title":"Am J Law Med"},{"key":"4428_CR41","doi-asserted-by":"publisher","first-page":"3393","DOI":"10.1016\/j.ridd.2013.07.011","volume":"34","author":"NA Pride","year":"2013","unstructured":"Pride NA, Crawford H, Payne JM, North KN. Social functioning in adults with neurofibromatosis type 1. Res Dev Disabil. 2013;34:3393\u20139. https:\/\/doi.org\/10.1016\/j.ridd.2013.07.011.","journal-title":"Res Dev Disabil"},{"key":"4428_CR42","doi-asserted-by":"publisher","first-page":"1150","DOI":"10.1002\/ajmg.a.38680","volume":"176","author":"AB Rietman","year":"2018","unstructured":"Rietman AB, van Helden H, Both PH, Taal W, Legerstee JS, van Staa A, et al. Worries and needs of adults and parents of adults with neurofibromatosis type 1. Am J Med Genet A. 2018;176:1150\u201360. https:\/\/doi.org\/10.1002\/ajmg.a.38680.","journal-title":"Am J Med Genet A"},{"key":"4428_CR43","doi-asserted-by":"publisher","DOI":"10.1002\/jgc4.1997","author":"T Gonzalez","year":"2024","unstructured":"Gonzalez T, McLean A, Fleming J, Morris K, Pacque M, Forwood C, et al. Reproductive decision-making experiences of Australian adults with neurofibromatosis type 1 and schwannomatosis. J Genet Couns. 2024. https:\/\/doi.org\/10.1002\/jgc4.1997.","journal-title":"J Genet Couns"},{"key":"4428_CR44","unstructured":"Giddens A. Modernity and Self-Identity: Self and Society in the Late Modern Age. Stanford University Press; 1991."},{"key":"4428_CR45","volume-title":"Liquid Modernity","author":"PZ Bauman","year":"2000","unstructured":"Bauman PZ. Liquid Modernity. Cambridge, UK: Malden, MA; 2000."},{"key":"4428_CR46","doi-asserted-by":"publisher","first-page":"485","DOI":"10.1080\/03085140050174750","volume":"29","author":"C Novas","year":"2000","unstructured":"Novas C, Rose N. Genetic risk and the birth of the somatic individual. Econ Soc Routledge. 2000;29:485\u2013513. https:\/\/doi.org\/10.1080\/03085140050174750.","journal-title":"Econ Soc Routledge"},{"key":"4428_CR47","doi-asserted-by":"crossref","unstructured":"Rose N. The Politics of Life Itself: Biomedicine, Power, and Subjectivity in the Twenty-First Century. Princeton; 2007.","DOI":"10.1515\/9781400827503"},{"key":"4428_CR48","doi-asserted-by":"publisher","first-page":"357","DOI":"10.1080\/03085149300000024","volume":"22","author":"M Greco","year":"1993","unstructured":"Greco M. Psychosomatic subjects and the \u2018duty to be well\u2019. personal agency within. Econ Soc Routledge. 1993;22:357\u201372. https:\/\/doi.org\/10.1080\/03085149300000024.","journal-title":"Econ Soc Routledge"},{"key":"4428_CR49","doi-asserted-by":"publisher","first-page":"33","DOI":"10.1007\/s12687-015-0247-z","volume":"7","author":"J Barke","year":"2016","unstructured":"Barke J, Coad J, Harcourt D. Parents\u2019 experiences of caring for a young person with neurofibromatosis type 1 (NF1): a qualitative study. J Community Genet. 2016;7:33\u20139. https:\/\/doi.org\/10.1007\/s12687-015-0247-z.","journal-title":"J Community Genet"},{"key":"4428_CR50","doi-asserted-by":"publisher","first-page":"e003383","DOI":"10.1136\/bmjoq-2025-003383","volume":"14","author":"S Ju","year":"2025","unstructured":"Ju S, Cowley L, Jain I, Martin V, Day E, Smith R, et al. Alone on our NF1 island: a patient-led mixed-method survey study to understand the care pathway for neurofibromatosis type 1 (NF1) patients in the UK. BMJ Open Qual. 2025;14:e003383. https:\/\/doi.org\/10.1136\/bmjoq-2025-003383.","journal-title":"BMJ Open Qual"},{"key":"4428_CR51","doi-asserted-by":"publisher","first-page":"430","DOI":"10.1007\/s10897-010-9307-z","volume":"19","author":"RL Klitzman","year":"2010","unstructured":"Klitzman RL. Misunderstandings Concerning Genetics Among Patients Confronting Genetic Disease. J Genet Couns. 2010;19:430\u201346. https:\/\/doi.org\/10.1007\/s10897-010-9307-z.","journal-title":"J Genet Couns"},{"key":"4428_CR52","doi-asserted-by":"publisher","first-page":"1","DOI":"10.1016\/j.pec.2013.05.003","volume":"92","author":"J Heritage","year":"2013","unstructured":"Heritage J. Asymmetries of knowledge in patient-provider encounters: three studies adopting conversation analysis. Patient Educ Couns. 2013;92:1\u20132. https:\/\/doi.org\/10.1016\/j.pec.2013.05.003.","journal-title":"Patient Educ Couns"},{"key":"4428_CR53","doi-asserted-by":"publisher","first-page":"875","DOI":"10.1177\/0038038513505011","volume":"47","author":"C Hauskeller","year":"2013","unstructured":"Hauskeller C, Sturdy S, Tutton R. Genetics and the Sociology of Identity. Sociology. 2013;47:875\u201386. https:\/\/doi.org\/10.1177\/0038038513505011.","journal-title":"Sociology"},{"key":"4428_CR54","doi-asserted-by":"publisher","first-page":"808","DOI":"10.1016\/j.pec.2020.09.029","volume":"104","author":"VL Merker","year":"2021","unstructured":"Merker VL, Plotkin SR, Charns MP, Meterko M, Jordan JT, Elwy AR. Effective provider-patient communication of a rare disease diagnosis: A qualitative study of people diagnosed with schwannomatosis. Patient Educ Couns. 2021;104:808\u201314. https:\/\/doi.org\/10.1016\/j.pec.2020.09.029.","journal-title":"Patient Educ Couns"},{"key":"4428_CR55","doi-asserted-by":"publisher","first-page":"96","DOI":"10.1111\/cch.12628","volume":"45","author":"G Currie","year":"2019","unstructured":"Currie G, Szabo J. It is like a jungle gym, and everything is under construction: The parent\u2019s perspective of caring for a child with a rare disease. Child Care Health Dev. 2019;45:96\u2013103. https:\/\/doi.org\/10.1111\/cch.12628.","journal-title":"Child Care Health Dev"},{"key":"4428_CR56","doi-asserted-by":"publisher","first-page":"68","DOI":"10.1186\/s13023-024-03058-4","volume":"19","author":"A Modelhart","year":"2024","unstructured":"Modelhart A, Sturz D, Kremslehner L, Prainsack B. Lived experiences of genetic diagnosis for rare disease patients: a qualitative interview study. Orphanet J Rare Dis. 2024;19:68. https:\/\/doi.org\/10.1186\/s13023-024-03058-4.","journal-title":"Orphanet J Rare Dis"},{"key":"4428_CR57","doi-asserted-by":"publisher","first-page":"e70102","DOI":"10.1002\/jgc4.70102","volume":"34","author":"L Burbury","year":"2025","unstructured":"Burbury L, Ayres S, Boyle J, Renton H, McInerney-Leo A. Exploring the experience of communication in healthcare settings with parents of children with a rare genetic condition: It\u2019s the more negative ones that you remember. J Genet Couns. 2025;34:e70102. https:\/\/doi.org\/10.1002\/jgc4.70102.","journal-title":"J Genet Couns"},{"key":"4428_CR58","doi-asserted-by":"publisher","first-page":"659","DOI":"10.1002\/ajmg.a.35840","volume":"161A","author":"EC Oates","year":"2013","unstructured":"Oates EC, Payne JM, Foster SL, Clarke NF, North KN. Young Australian adults with NF1 have poor access to health care, high complication rates, and limited disease knowledge. Am J Med Genet A. 2013;161A:659\u201366. https:\/\/doi.org\/10.1002\/ajmg.a.35840.","journal-title":"Am J Med Genet A"},{"key":"4428_CR59","unstructured":"Goffman E. Stigma: Notes on the Management of Spoiled Identity. London; 1990."},{"key":"4428_CR60","doi-asserted-by":"publisher","first-page":"441","DOI":"10.1111\/j.1467-9566.2009.01161.x","volume":"31","author":"G Scambler","year":"2009","unstructured":"Scambler G. Health-related stigma. Sociol Health Illn. 2009;31:441\u201355. https:\/\/doi.org\/10.1111\/j.1467-9566.2009.01161.x.","journal-title":"Sociol Health Illn"},{"key":"4428_CR61","unstructured":"Klitzman R. Am I My Genes? Confronting Fate and Family Secrets in the Age of Genetic Testing. Oxford University Press, USA; 2012."},{"key":"4428_CR62","doi-asserted-by":"publisher","first-page":"e70006","DOI":"10.1002\/jgc4.70006","volume":"34","author":"RT de Moraes","year":"2025","unstructured":"de Moraes RT, Bicudo NP, Germano CMR, de Av\u00f3 LR, da Melo S. A qualitative approach to life with neurofibromatosis type 1 based on Mishel\u2019s Uncertainty in Illness Theory: My body is a ticking time bomb. J Genet Couns. 2025;34:e70006. https:\/\/doi.org\/10.1002\/jgc4.70006.","journal-title":"J Genet Couns"},{"key":"4428_CR63","doi-asserted-by":"publisher","first-page":"7441","DOI":"10.1007\/s00520-021-06319-1","volume":"29","author":"KT Bui","year":"2021","unstructured":"Bui KT, Blinman P, Kiely BE, Brown C, Dhillon HM. Experiences with scans and scanxiety in people with advanced cancer: a qualitative study. Support Care Cancer. 2021;29:7441\u20139. https:\/\/doi.org\/10.1007\/s00520-021-06319-1.","journal-title":"Support Care Cancer"},{"key":"4428_CR64","doi-asserted-by":"publisher","first-page":"511","DOI":"10.1007\/s00520-021-06454-9","volume":"30","author":"KT Bui","year":"2022","unstructured":"Bui KT, Kiely BE, Dhillon HM, Brown C, Xu K, Shafiei M, et al. Prevalence and severity of scanxiety in people with advanced cancers: a multicentre survey. Support Care Cancer. 2022;30:511\u20139. https:\/\/doi.org\/10.1007\/s00520-021-06454-9.","journal-title":"Support Care Cancer"},{"key":"4428_CR65","doi-asserted-by":"publisher","unstructured":"Huelsnitz CO, Werner-Lin A, Forbes Shepherd R, Han PKJ, Khincha PP. Relational aspects to screening-associated distress among individuals with li-fraumeni syndrome: the all-clear for me is good. the all-clear for my kids is great. Qual Health Res. 2025:10497323251365787. https:\/\/doi.org\/10.1177\/10497323251365787.","DOI":"10.1177\/10497323251365787"},{"key":"4428_CR66","doi-asserted-by":"publisher","first-page":"e70048","DOI":"10.1002\/pon.70048","volume":"34","author":"H Derry-Vick","year":"2025","unstructured":"Derry-Vick H, Khoudary A, Billini O, Prigerson HG, Schwartz MD, Cohen J, et al. Stress Management Program for Scanxiety in People With Advanced Lung Cancer: Intervention Adaptation and Stakeholder Feedback. Psychooncology. 2025;34:e70048. https:\/\/doi.org\/10.1002\/pon.70048.","journal-title":"Psychooncology"},{"key":"4428_CR67","doi-asserted-by":"publisher","unstructured":"Chau M. Alone with the diagnosis: A reflective analysis on imaging report access and emotional burden. Radiography (Lond). London, England: 1995; 2025;31 Suppl 2:103104. https:\/\/doi.org\/10.1016\/j.radi.2025.103104.","DOI":"10.1016\/j.radi.2025.103104"},{"key":"4428_CR68","doi-asserted-by":"publisher","first-page":"940","DOI":"10.1038\/s41431-021-00822-z","volume":"29","author":"A Wauters","year":"2021","unstructured":"Wauters A, Van Hoyweghen I. Normalising life at risk of Huntington\u2019s disease. A qualitative study of backgrounds and coping strategies of fears of genetic discrimination. Eur J Hum Genet. 2021;29:940\u20138. https:\/\/doi.org\/10.1038\/s41431-021-00822-z.","journal-title":"Eur J Hum Genet"},{"key":"4428_CR69","doi-asserted-by":"publisher","first-page":"515","DOI":"10.1002\/jgc4.1749","volume":"33","author":"L Dratch","year":"2024","unstructured":"Dratch L, Owczarzak J, Mu W, Cousins KAQ, Massimo L, Grossman M, et al. The lived experience of reconstructing identity in response to genetic risk of frontotemporal degeneration and amyotrophic lateral sclerosis. J Genet Couns. 2024;33:515\u201327. https:\/\/doi.org\/10.1002\/jgc4.1749.","journal-title":"J Genet Couns"},{"key":"4428_CR70","doi-asserted-by":"publisher","first-page":"532357","DOI":"10.3389\/fsoc.2020.532357","volume":"5","author":"A Urban","year":"2020","unstructured":"Urban A. \u2026 This Has to Do With My Identity. And I Don\u2019t Want to Make it Totally Transparent. Identity Relevance in the Attitudes of Affected People and Laypersons to the Handling of High-Throughput Genomic Data. Front Sociol. 2020;5:532357. https:\/\/doi.org\/10.3389\/fsoc.2020.532357.","journal-title":"Front Sociol"},{"key":"4428_CR71","doi-asserted-by":"publisher","first-page":"1349","DOI":"10.1002\/jgc4.1610","volume":"31","author":"S Kjoelaas","year":"2022","unstructured":"Kjoelaas S, Jensen TK, Feragen KB. Dilemmas when talking about Huntington\u2019s disease: A qualitative study of offspring and caregiver experiences in Norway. J Genet Couns. 2022;31:1349\u201362. https:\/\/doi.org\/10.1002\/jgc4.1610.","journal-title":"J Genet Couns"},{"key":"4428_CR72","unstructured":"Ministerstwo Zdrowia. Rada Ministr\u00f3w przyj\u0119\u0142a Plan dla Chor\u00f3b Rzadkich na lata 2024\u20132025. Portal Gov.pl. 2026. https:\/\/www.gov.pl\/web\/zdrowie\/rada-ministrow-przyjela-plan-dla-chorob-rzadkich-na-lata-2024-2025."}],"container-title":["Orphanet Journal of Rare Diseases"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/link.springer.com\/article\/10.1186\/s13023-026-04428-w","content-type":"text\/html","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/link.springer.com\/content\/pdf\/10.1186\/s13023-026-04428-w.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/link.springer.com\/content\/pdf\/10.1186\/s13023-026-04428-w.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2026,8,25]],"date-time":"2026-08-25T13:02:47Z","timestamp":1787662967000},"score":1,"resource":{"primary":{"URL":"https:\/\/link.springer.com\/10.1186\/s13023-026-04428-w"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2026,6,12]]},"references-count":72,"journal-issue":{"issue":"1","published-online":{"date-parts":[[2026,12]]}},"alternative-id":["4428"],"URL":"https:\/\/doi.org\/10.1186\/s13023-026-04428-w","relation":{},"ISSN":["1750-1172"],"issn-type":[{"value":"1750-1172","type":"electronic"}],"subject":[],"published":{"date-parts":[[2026,6,12]]},"assertion":[{"value":"5 December 2025","order":1,"name":"received","label":"Received","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"26 May 2026","order":2,"name":"accepted","label":"Accepted","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"12 June 2026","order":3,"name":"first_online","label":"First Online","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"This study was performed in line with the principles of the Declaration of Helsinki and was approved by the Bioethics Committee of the Nicolaus Copernicus University in Torun, L. Rydygier Medical College in Bydgoszcz (KB 617\/2017).","order":1,"name":"Ethics","label":"Ethical approval","group":{"name":"EthicsHeading","label":"Declarations"}},{"value":"Not applicable.","order":2,"name":"Ethics","label":"Consent for publication","group":{"name":"EthicsHeading","label":"Declarations"}},{"value":"The authors declare that they have no conflict of interest.","order":3,"name":"Ethics","label":"Conflict of interest","group":{"name":"EthicsHeading","label":"Declarations"}}],"article-number":"298"}}