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• W2958634512 abstract "Abstract Nail‐Patella syndrome (NPS) is a genetic disorder generating physical malformations and, in approximately one in three cases, ocular and renal damage. The present research aimed to deeply understand patients' subjective experience with NPS, particularly the aspects of the syndrome that affect patients' adaptation and to propose interventions that can improve genetic and psychological counseling and help patients cope with their condition. Semi‐structured interviews of nine people diagnosed with NPS were analyzed using interpretative phenomenological analysis. Results highlighted attempts to look like a person without disabilities by hiding malformations and not telling the truth about symptoms' genetic origin because of patients' poor self‐esteem, negative self‐cognition, and social isolation experienced from childhood to adulthood. Difficulties of adaptation to physical limits and pain were also identified. The majority of participants who were not diagnosed at birth tended to consider physical symptoms as “birth malformations” without imagining other potential implications until receiving a diagnosis. Despite the diagnosis, the majority continued to minimize the potential complications by considering NPS as a “physical difference” and not adhering to medical surveillance." @default.
• W2958634512 created "2019-07-23" @default.
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• W2958634512 date "2019-07-16" @default.
• W2958634512 modified "2023-10-09" @default.
• W2958634512 title "Difficulties adapting to Nail‐Patella syndrome: A qualitative study of patients' perspectives" @default.
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• W2958634512 doi "https://doi.org/10.1002/jgc4.1153" @default.
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• W2958634512 hasPublicationYear "2019" @default.
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