| Summary: | We do not know what it means to live with Russell-Silver syndrome (RSS), as currently there is a dearth of literature exploring the lived experience of this rare genetic condition characterised by pre and postnatal growth retardation. Discovering how this syndrome affects the lived experience will provide valuable information for better healthcare provision and aid families in making difficult treatment decisions. In this qualitative study, in-depth semi-structured interviews were used with 15 participants (6 female). Using thematic analysis, three themes were identified: “It’s not just all about height”, ‘everyone’s comparing, everyone’s judging’, and “mayor of the friend zone”. These themes describe participants’ struggles with varied psychosocial, appearance and body image related concerns. The key findings were: participants experienced appearance-related concerns that surpassed a concern about height; adolescence was a particularly difficult time; and there was a mismatch between patient need and existing healthcare provision. Two main recommendations were made: Firstly, psychosocial evaluation and interventions to improve self-esteem, self-confidence, negative body image, and social interactions during early adolescence could ameliorate psychological distress. And secondly, a conflation of the 2016 expert consensus statement, which summarised recommendations for the management of patients with RSS as well as for diagnosis and investigation, and the results from the present study is needed to inform a care pathway recommending psychosocial assessment and that continues into adulthood.
|
|---|
