Le Adam, Thibault Kelly-Ann, Yazdani Pouneh Amir, Bertini Enrico, Nicita Francesco, Pohl Daniela, Venkateswaran Sunita, Keller Stephanie, Renaud Deborah, Moron Dolores Gonzales, Kauffman Marcelo, De Assis Pereira Danilo, Vanderver Adeline, Morsa Maxime, Bernard Geneviève
Child Health and Human Development Program, Research Institute of the McGill University Health Centre, Montréal, Québec, Canada; Department of Neurology and Neurosurgery, McGill University, Montréal, Québec, Canada.
Child Health and Human Development Program, Research Institute of the McGill University Health Centre, Montréal, Québec, Canada; Department of Neurology and Neurosurgery, McGill University, Montréal, Québec, Canada; Faculté de Médecine, Université de Montréal, Montréal, Québec, Canada.
Pediatr Neurol. 2025 May;166:81-87. doi: 10.1016/j.pediatrneurol.2025.02.011. Epub 2025 Feb 27.
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.
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.
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.
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.
POLR3相关的低髓鞘性脑白质营养不良（POLR3-HLD）是一种罕见的遗传性神经退行性疾病，影响中枢神经系统的白质发育。这种疾病的特征是髓鞘形成减少、牙齿发育不全和低促性腺激素性性腺功能减退（4H脑白质营养不良）。POLR3-HLD患者需要复杂且专业的护理；然而，由于其罕见性以及认知有限，家长们常常额外承担起孩子护理专家和倡导者的角色。我们旨在了解家长们在医疗保健领域的经历，并确定潜在的改进目标。
研究团队成员对POLR3-HLD患者的家长进行了半结构化访谈。访谈问题聚焦于诊断历程、医疗服务的可及性和获取情况，以及对护理质量的感知。访谈进行了录音、转录、编码，并采用反思性主题分析法进行分析，围绕家长医疗保健经历的主题得以形成。
2023年三至十月间，对来自国际队列的24位家长进行了19次半结构化访谈。形成了四个主题：获取护理存在的障碍、诊断和护理方面知识有限、家长作为孩子护理的专家和倡导者，以及白质营养不良专家提供的优质护理。许多家长表示感到孤独和不确定，几乎没有得到指导。他们还指出了护理方面存在的感知差距和面临的挑战，但在专科诊所接受白质营养不良专家治疗时感到欣慰。
本研究将有助于更好地为医疗保健提供者、管理人员和政策制定者提供信息，以扩大和改善POLR3-HLD患者及其家庭获得优质护理的机会。这些结论也可能适用于其他罕见疾病。
