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. 2023 Apr;38(5):329-335.
doi: 10.1177/08830738231176672. Epub 2023 May 24.

The Experience of Parents of Children With Genetically Determined Leukoencephalopathies With the Health Care System: A Qualitative Study

Pouneh Amir Yazdani  1   2   3   4 , Marie-Lou St-Jean  1   2   3   5 , Sara Matovic  1   2   3 , Aaron Spahr  1   2 , Luan T Tran  1   2 , Renée-Myriam Boucher  6 , Chantal Poulin  2   3 , Bradley Osterman  2   3 , Myriam Srour  1   2   3 , Bernard Rosenblatt  2   3 , Sébastien Chénier  7 , Jean-Francois Soucy  8   9 , Anne-Marie Laberge  8   9 , Maria Daniela D'Agostino  10   11 , Cam-Tu Emilie Nguyen  12 , Maxime Morsa  5   13 , Geneviève Bernard  1   2   3   10   11
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The Experience of Parents of Children With Genetically Determined Leukoencephalopathies With the Health Care System: A Qualitative Study

Pouneh Amir Yazdani et al. J Child Neurol. 2023 Apr.

Abstract

Parents of children with genetically determined leukoencephalopathies play a major role in their children's health care. We sought to gain a better understanding of their experience with the public health care system in Quebec, Canada, to obtain suggestions for improving their services, and to identify modifiable factors to improve their quality of life. We conducted interviews with 13 parents. Data was analyzed thematically. Five themes were identified: challenges of the diagnostic odyssey, limited access to services, excessive parental responsibilities, positive relationships with health care professionals as a facilitator of care, and benefits of a specialized leukodystrophy clinic. Parents felt like waiting for the diagnosis was extremely stressful, and they expressed their need for transparency during this period. They identified multiple gaps and barriers in the health care system, which burdened them with many responsibilities. Parents emphasized the importance of a positive relationship with their child's health care professionals. They also felt grateful for being followed at a specialized clinic as it improved the quality of care received.

Keywords: children; leukodystrophy; pediatric; quality of life.

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Conflict of interest statement

The author(s) declared the following potential conflicts of interest with respect to the research, authorship, and/or publication of this article: LTT currently manages sponsored clinical trials at the site level for Ionis Pharmaceuticals (Alexander disease clinical trial 2021-present), Passage Bio (Krabbe disease and GM1 gangliosidosis clinical trials, 2021-present), and Teva Pharmaceuticals (chronic and episodic migraine clinical trials, 2022-present). He also manages a GM1 gangliosidosis natural history study sponsored by the University of Pennsylvania with funding from Passage Bio. GB is/was a consultant for Passage Bio Inc (2020-2022) and Ionis Pharmaceuticals (2019). She is/was a site investigator for the Alexander's disease trial of Ionis Pharmaceuticals (2021-present), Metachromatic leukodystrophy of Shire/Takeda (2020-2021), Krabbe and GM1 gene therapy trials of Passage Bio (2021-present), GM1 natural history study sponsored by the University of Pennsylvania with funding from Passage Bio (2021-present) and Adrenoleukodystrophy/Hematopoietic stem cell transplantation natural history study of Bluebird Bio (2019), a site subinvestigator for the MPS II gene therapy trial of Regenxbio (2021-present) and the MPS II clinical trial of Denali (2022-present). She has received unrestricted educational grants from Takeda (2021-2022). She serves on the scientific advisory board of the Pelizaeus-Merzbacher Foundation, the Yaya Foundation Scientific and Clinical Advisory Council, and is the Chair of the Medical and Scientific Advisory Board of the United Leukodystrophy Foundation. She is a member of the Vanishing White Matter Consortium, the MLC Consortium, the H-ABC Clinical Advisory Board, and the Chair of the POLR3-related (4H) Leukodystrophy Consortium. She is on the editorial boards of Neurology Genetics, Frontiers in Neurology—Neurogenetics, and Journal of Medical Genetics.

References

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