PDF(Pubmed)
Abstract：
Obtaining a genetic diagnosis of a primary mitochondrial disease (PMD) is often framed as a diagnostic odyssey. Yet, even after receiving a diagnosis, parents of affected children experience ongoing therapeutic and prognostic uncertainty and considerable psychosocial challenges. Semi-structured interviews (N = 24) were conducted with parents of 13 children (aged 2-19 years) with a genetically confirmed PMD. Paternal (N = 11) and maternal (N = 13) perspectives were obtained, and thematic analysis was performed on all interviews. A genetic diagnosis was valuable and empowering for parents, despite eliciting varied emotional responses. While the diagnosis helped focus management decisions, families often felt overwhelmed and unsupported in navigating the healthcare system. Most parents reported a serious impact on their romantic relationship. The sources of social support varied, with a preference for established friendship and family support networks over disease-specific community support groups. Most parents favored prenatal genetic testing in the event of a future pregnancy. This study provides insight into the lived experiences of parents after a genetic diagnosis of PMD in their children. The findings draw awareness to supportive care needs and highlight important gaps that should be addressed to ensure that parents feel supported within a holistic framework of management for PMDs.
摘要：
获得原发性线粒体疾病（PMD）的遗传诊断通常被视为诊断冒险。然而，即使在接受诊断后，受影响儿童的父母经历持续的治疗和预后不确定性以及相当大的心理社会挑战。对13名儿童（2-19岁）的父母进行了半结构化访谈（N=24），这些儿童具有遗传证实的PMD。获得了父亲(N=11)和母亲(N=13)的观点，并对所有访谈进行主题分析。基因诊断对父母来说是有价值和授权的，尽管引发了不同的情绪反应。虽然诊断有助于集中管理决策，在浏览医疗保健系统时，家庭经常感到不知所措和得不到支持。大多数父母报告说他们的浪漫关系受到严重影响。社会支持的来源多种多样，与特定疾病的社区支持小组相比，更喜欢建立的友谊和家庭支持网络。大多数父母都赞成在将来怀孕时进行产前基因检测。这项研究提供了对父母在其子女中进行PMD遗传诊断后的生活经历的见解。调查结果引起了人们对支持性护理需求的认识，并强调了应解决的重要差距，以确保父母在PMD管理的整体框架内得到支持。
