“They don’t know how to live with a child with these conditions, they can’t understand…”: The lived experiences of parenting a child with a genetic neurodevelopmental disorder

Abstract

AbstractBackgroundA genetic neurodevelopmental diagnosis (GND) impacts all aspects of a child and family’s life. GNDs are rare; most have limited natural history data. We aimed to understand parents’ experiences around data acquisition about their child’s GNDs which can help inform clinical practice.Design and participantsThis analysis is part of the UK multicentre GenROC study. We conducted 17 semi-structured interviews with parents of children with GNDs (aged 0-15 years). Data were analysed following the principles of thematic analysis.ResultsFive main themes are reported:Impact on the family around a genetic diagnosisDistress results from diagnosis wait, the act of receiving it, associated irreversibility (loss of hope) and family/reproductive implications.GNDs and Uncertainty: Lack of data and rareness causes uncertainty for the future.Relationships with health professionalsPositive where parents are empowered and feel part of the team; Negative –parents feel not heard/believed or lack of expertise/understanding.Parent mental healthGNDs can be a significant burden to family life. Need for advocating for services is a negative impact. Isolation through rareness is a factor – this can be helped by support networks which mostly consist of gene specific Facebook groups.Development of positive parent identitiesincluding that of advocate, professional and educator.ConclusionsGNDs represent a major challenge for families, clinicians and service providers. Distressed parents are struggling to cope with challenges and suffer poor mental health. Psychosocial support, better signposting, and health professional education may help.Patient contributionPPI group contributed to topic guide development and commented on findings.