The experiences of parents of children diagnosed with cerebral adrenoleukodystrophy

Background: Adrenoleukodystrophy (ALD) is a rare X‐linked neurodegenerative disease, affecting the brain, spinal cord and adrenal cortex. Childhood cerebral ALD (CCALD) is the most severe form of disease, involving rapidly progressive neurological deterioration. The treatment option for CCALD is allogenic haemopoietic stem cell transplant, which is only successful for early‐stage disease. Parents' experiences of CCALD can inform healthcare delivery. Study aim: To detail the experiences of parents of children diagnosed with cerebral ALD. Methods: A descriptive qualitative study. Parents were recruited via a UK‐based community support organisation. Data collection involved single semi‐structured interviews structured around a topic guide and conducted remotely. Data were analysed using the thematic analysis approach. Findings: Twelve parents from 11 families with a total of 16 children with ALD contributed to the study. Their 16 children with ALD followed one of three disease pathways, determined by the extent of neurological damage at diagnosis. Three themes, and their respective sub themes, describe the pathways and what they meant for parents. ‘No possibility of treatment’ concerns situations when CCALD was diagnosed at an advanced stage, the landslide of deterioration parents witnessed and their efforts to maintain normality. ‘Close to the treatment threshold’ describes situations where a small treatment window required parents to make agonising treatment decisions. ‘Watching and waiting’ explains the challenges for parents when disease was detected early enabling children to benefit from timely treatment. Discussion: Parents' experiences were largely defined by the extent of cerebral damage at diagnosis, which determined the availability and success of treatment. There were specific challenges related to the three situations, indicating areas where support from health and care services may help parents deal with this devastating diagnosis. Conclusion: This study indicates support needs of parents across the spectrum of CCALD diagnoses and highlights the critical importance of early diagnosis.