A new study published in the Orphanet Journal of Rare Diseases explores the feelings and reactions of parents who have a child diagnosed with lysosomal acid lipase deficiency (LAL-D), finding uncertainty and powerlessness to be shared themes.

Researchers interviewed parents of children with the disease and found that treatment successes were critical to giving families hope, in terms of reducing dietary restrictions on their child.

“The study highlighted the significant impact that a diagnosis of (LAL-D) has on parents, uncovering their psychological experiences from the point of diagnosis to living with a high degree of uncertainty,” the authors wrote. “The findings of this study highlight that the diagnosis of (LAL-D) 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.”


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The research team conducted in-depth interviews of 8 parents of children aged less than 10 years with LAL-D, including 5 mothers and 3 fathers, to assess their experiences living with this rare condition and identify potential support mechanisms. Semistructured interviews were employed, and 3 overarching themes were derived from these interviews: uncertainty, feelings of powerlessness, and accepting a life with LAL-D.

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The uncertainty parents felt was in part due to the lack of disease information available to them, in addition to seeing their child so sick. Believing that they were unable to care for their child contributed to the feeling of powerlessness. A focus on treatment successes and their child achieving milestones such as attending school helped them accept life with LAL-D and maintain hope for the future of their family.

The research team hopes the study findings will be considered and addressed by specialist psychological providers for parents of children with LAL-D.

Reference

Hassall S, Smith DM, Rust S, Jones SA, Wittkowski A. “Why them, why me, why us?” The experiences of parents of children with lysosomal acid lipase deficiency: an interpretative phenomenological analysis study. Orphanet J Rare Dis. 2022;17:193. doi:10.1186/s13023-022-02335-4