Impact on physical, social, and family functioning of patients with metachromatic leukodystrophy and their family members in Japan: A qualitative study

Abstract

Metachromatic leukodystrophy is a rare autosomal recessive disease. There are three forms of this disease, all of which result in cognitive and motor dysfunctions. Although enzyme replacement and gene therapies have been developed, they are not expected to be effective in patients with advanced diseases. Therefore, it is important to focus on treatment effects and patients' quality of life; however, qualitative findings on the experiences of patients and their families have not been adequately reported. Interviews were conducted with the family members of patients with metachromatic leukodystrophy in Japan. Verbatim transcripts were analyzed using a qualitative content analysis approach. We interviewed the mothers of five patients. Verbatim interview transcripts were classified into 81 codes. The codes were then aggregated into 15 categories and 3 themes: challenges of life for the patients, challenges in the healthcare system, and challenges of family function. Disease progression greatly affects patients' lives. Moreover, social systems supporting patients and their families are inadequate, especially as the disease progresses. Family members face life restrictions and role changes because of the patient's diagnosis. Patients with metachromatic leukodystrophy and their families require comprehensive support.