Understanding the lived experience of Russell-Silver syndrome - recommendations for health care professionals

Abstract

Background: Russell-Silver syndrome (RSS) is a rare genetic condition and is characterised by slow pre and post-natal growth, short stature (SS) in adulthood, triangular facial appearance and body and facial asymmetry. Very little is known about what it is like to live with this rare condition beyond what is reported in the clinical literature and a need for clear guidance for health care professionals (HCPs) in how to communicate and support these patients has been identified. Our research aim was to understand the lived experience of RSS. Methods: In this phenomenological study, thematic analysis was conducted on data from in-depth, semi-structured interviews with 15 participants from the UK (7 female) aged between 17 and 55. Findings: The analysis identified key themes common among many participants; experience of the healthcare system, transition from child to adult services, biggest impact RSS characteristics and appearance/body image issues. Discussion: The focus for HCPs involved in the care of children with growth problems is often on height, for which there is a clear treatment pathway using growth hormone therapy, but no robust evidence to support its effectiveness in children with RSS. No psychological support is offered to these patients, however our research suggests patients struggle with varied appearance and body image related concerns which often overshadow a concern about height. These findings will inform an educational package for HCPs working with RSS patients and their parents, and help inform psychosocial support for this overlooked patient group.