Experiences of mothers of long-term surviving patients with cerebral adrenoleukodystrophy: a qualitative study.

Autor: Koto Y; Faculty of Nursing, Graduate School of Nursing, Kansai Medical University, 2-2-2 Shinmachi, Hirakata, Osaka, 573-1004, Japan. kotoy@hirakata.kmu.ac.jp., Hadano N; Department of Nursing, Faculty of Nursing, Shitennoji University, 3-2-1 Gakuenmae, Habikino, Osaka, 583-8501, Japan., Sakai N; Center for Promoting Treatment of Intractable Diseases, ISEIKAI International General Hospital, 4-14 Minamiogimachi, Kita-ku, Osaka, 530-0052, Japan.
Jazyk: angličtina
Zdroj: Orphanet journal of rare diseases [Orphanet J Rare Dis] 2024 Oct 28; Vol. 19 (1), pp. 401. Date of Electronic Publication: 2024 Oct 28.
DOI: 10.1186/s13023-024-03424-2
Abstrakt: Background: Adrenoleukodystrophy (ALD) is an X-linked peroxisomal disorder. Its cerebral form presents as a learning and behavioral disorder that, if untreated, leads to rapid neurological regression, disability, and death within 10 years of diagnosis. Therefore, the disease significantly impacts patients' quality of life, making quality of life assessment crucial for effective medical treatment and care. However, no disease-specific quality of life scale exists for ALD. Therefore, we conducted qualitative research to determine the experiences of patients and their families as a preliminary step toward developing one.
Results: Four mothers of patients with cerebral ALD were interviewed. Based on classification using the qualitative content analysis method, the verbatim transcripts were grouped into four themes: support needs for patients, support needs for families, the impact of treatment, and challenges within support systems.
Conclusions: Support for patients and family members is required after ALD is diagnosed. In addition to addressing symptoms, daily life support and caregiving burden should be considered. Furthermore, several challenges and opportunities exist for improving treatment and support systems. Therefore, combining appropriate supporters and support systems according to the progressive and hereditary characteristics of ALD is crucial.
(© 2024. The Author(s).)
Databáze: MEDLINE
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