“Why them, why me, why us?” The experiences of parents of children with lysosomal acid lipase deficiency: an interpretative phenomenological analysis study

Abstract

Background: Lysosomal acid lipase deficiency (LALD) is an ultra-rare, inherited metabolic disease within the category of lysosomal storage disorders, affecting an infant’s ability to metabolise cholesterol. Developments in treatment, including Enzyme Replacement Therapy, have proven successful, with some children living for a number of years with treatment, although the future still remains unknown. The aim of this study was to explore the lived experiences of parents of children with LALD. Main text: Participants were recruited from across the United Kingdom between 2020 and 2021. Eight parents (five mothers and three fathers) whose child had a confirmed diagnosis of LALD were interviewed. Data collected from the semi-structured interviews were audio-record, transcribed and analysed using Interpretative Phenomenological Analysis (IPA). Three superordinate and nine subordinate themes emerged from the data: (1) Uncertainty—a double-edged sword (plunged into an uncertain world, living life with worry and walking the tightrope of stability), (2) Powerless against a shared battle with LALD (a helpless parent, a joint battle, protection against distress and a vulnerable parent needing help) and 3) Accepting a life with LALD (coming to terms with a diagnosis of LALD and a hidden condition). Conclusions: The findings of this study highlight that the diagnosis of LALD proves to be a very challenging and emotionally distressing time in parents’ lives, with increased uncertainty about what the future will hold for their child. This study signified the importance of healthcare pathways and service provisions to support parents and their children throughout diagnosis and beyond.