POLR3-Related Leukodystrophy: A Qualitative Study on Parents' Experiences With the Health Care System.

BACKGROUND

POLR3-related hypomyelinating leukodystrophy (POLR3-HLD) is a rare, inherited neurodegenerative disorder affecting white matter development of the central nervous system. This disorder is characterized by hypomyelination, hypodontia, and hypogonadotropic hypogonadism (4H leukodystrophy). Patients with POLR3-HLD require complex and specialized care; however, due to its rarity and limited awareness, parents often assume additional roles as experts and advocates for their child(ren). We aimed to understand parents' experiences navigating the health care landscape and to identify potential targets for improvement.

METHODS

Research team members conducted semi-structured interviews with parents of patients with POLR3-HLD. Interview questions focused on the diagnostic odyssey, availability and access to care, and the perceived quality of care. Interviews were recorded, transcribed, coded, and analyzed using reflexive thematic analysis, and themes surrounding parents' health care experiences were developed.

RESULTS

Nineteen semi-structured interviews were conducted with an international cohort of 24 parents between March and October 2023. Four themes were developed: existing barriers in accessing care, limited knowledge in diagnosis and care, parents as experts and advocates of their child(ren)'s care, and perceived superior care by leukodystrophy specialists. Many parents expressed feeling alone and uncertain, with little guidance provided to them. They also identified perceived gaps in care and challenges faced but found comfort when treated by leukodystrophy experts in specialty clinics.

CONCLUSIONS

This study will help better inform health care providers, administrators, and policymakers to expand and improve access to quality care for patients with POLR3-HLD and their families. These conclusions may also be generalizable to other rare diseases.