An in-depth review of the emotions and complexity of lived experiences as caregivers for children with lysosomal acid lipase deficiency (LAL-D) was conducted using the Interpretative Phenomenological Analysis. This qualitative study is in preprint and under consideration to be published in the Orphanet Journal of Rare Diseases.

Parents experienced support either from their spouses or other family members, their religious beliefs, or connections with other parents going through similar experiences with children who have LAL-D.

“This study encapsulated the psychological experiences and needs of parents which need to be considered within service structures and specialist care provision for children with [LAL-D/lysosomal storage disorders],” the authors said. “Supporting the psychological care needs of parents is imperative within [pediatric] services, having been linked to improved adjustment and better physical and emotional health outcomes.”

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Investigators identified 3 superordinate themes and 9 subordinate themes during the analysis process. Superordinate themes included uncertainty, powerlessness against a battle shared by both child and parent, and acceptance of life with LAL-D under the disguise of “normalcy”.

Subordinate themes under the superordinate theme of uncertainty consisted of plunging into an uncertain world, living life with constant worry, and walking on a tightrope of stability. Under the superordinate theme of powerlessness included the helplessness of the parent, the parent and child fighting a joint battle, the wish for protection against distress, and a vulnerable parent’s need for support.

Subordinate themes under the superordinate theme of acceptance included the attempt to make sense of “why” and the easier acceptance of condition by the parent with the child’s symptom improvement following successful treatment. In particular, the ability of their child to reach normal milestones and the transition to in-home treatments decreased treatment burden and facilitated the perception of a more “normal” life for their child.

Between September of 2020 and February of 2021, researchers interviewed 5 mothers and 3 fathers of 5 children diagnosed with infantile-onset LAL-D in the United Kingdom. All children were under 10 years of age. These children received a Hematopoietic Stem Cell Transplant (HSCT) with continued enzyme replacement therapy (ERT) and substrate reduction (dietary treatment), HSCT without continued ERT and substrate reduction, or ERT and substrate reduction without HSCT.

The investigators interviewed these 8 parents individually using a semi-guided structure to the interviews to ensure the relevance of topics discussed but also allowing open-ended questions for the interviewee’s experiences to guide the interview. The researchers recorded and transcribed the interviews. Two members of the research team read each transcript multiple times to detect emerging themes which were grouped into subordinate and superordinate themes based on established relationships.

One limitation of this study included the lack of transferability outside of the United Kingdom. Delivery of services through varying healthcare systems outside of the United Kingdom might alter the individual parental experiences.


Hassell S, Smith DM, Rust S, Jones S, Wittkowski A. “Why them, why me, why us?” The experiences of parents of children with lysosomal acid lipase deficiency: an interpretative phenomenological analysis study. Research Square. Published online November 1, 2021. doi:10.21203/