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

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.

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

“…Many of the participants in this study were referred to specialists relatively early after disease onset and were able to receive an early diagnosis. However, waiting for a diagnosis can be stressful for parents [ 28 ]. In addition to presenting a medical diagnosis and the availability of treatment, medical staff must be willing to listen to the family's psychological perceptions and struggles and support them in their lives.…”

“…In addition to presenting a medical diagnosis and the availability of treatment, medical staff must be willing to listen to the family's psychological perceptions and struggles and support them in their lives. A good relationship with a healthcare provider may ease parental anxiety [ 28 ]. HSCT, ERT, and gene therapy should start treatment for MLD [ 12 ].…”

“…The lack of access to specialized hospitals and medical personnel in a region makes it more difficult to receive a diagnosis [ 29 ]. Also, parents felt there was a lack of services tailored to their children's needs, such as rehabilitation and home nursing services [ 28 ]. Patients with MLD with an advanced disease require a variety of support.…”

Experiences of patients with metachromatic leukodystrophy, adrenoleukodystrophy, or Krabbe disease and the experiences of their family members: a qualitative systematic review

“… 31 To reduce the delay in diagnosis, a diagnostic algorithm combining imaging and genetic testing has been proposed for early diagnosis and treatment. 40 , 41 The inclusion of these leukodystrophies in newborn screening has been considered, with Krabbe disease a target disease in some areas. 10 Early diagnosis after consultation is expected to lead to more treatment options that can halt disease progression and reduce the psychological burden on the family.…”