“Why them, why me, why us?” The Experiences of Parents of Children with Lysomal Acid Lipase Deficiency: An Interpretative Phenomenological Analysis Study

Abstract BackgroundLysosomal 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 post-diagnosis, although the future still remains unknown. The aim of this study was to explore the lived experiences of parents of children with LALD. Main textParticipants were recruited from across the United Kingdom between 2020-2021. 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 (a helpless parent, a joint battle, protection against distress and a vulnerable parent needing to be held) and 3) Accepting a life with LALD - the camouflage of a “normal” child (trying to make sense of ‘why’ and a condition disguised by normality). ConclusionsThe findings of this study highlighted that the diagnosis of LALD proves to be a very vulnerable time in parents’ lives, eliciting strong emotional reactions against an unknown future. This study signified the importance of clinical pathways and service provisions to support parents and their children through this period, raising important issues around diagnosis.