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加拿大 lysosomal存储疾病的患者和家庭经验:一个定性采访研究研究

Nahya Awada¹, Martin Holcik²

¹School of Public Policy and Administration Carleton University Ottawa Canada.

|March 6, 2024

概括

加拿大患有罕见遗传溶酶体储存疾病的患者在医疗保健和社会支持方面面临重大挑战. 改善获得服务和孤儿药物的机会对于更好的患者结果至关重要.

科学领域:

医学遗传学医学遗传学
公共卫生公共卫生
患者倡导患者倡导

背景情况:

罕见的遗传性溶酶体储存疾病 (LSD) 对加拿大患者和家人来说存在独特的管理挑战.
现有的研究缺乏对LSD患者生活经验和未满足需求的全面分析.

研究的目的:

探索加拿大患者和护理人员与LSD有关疾病管理和医疗保健系统导航的经验.
为以患者为中心的罕见疾病 (RD) 政策和计划提供信息,以改善受RDs影响的加拿大人的健康结果.

主要方法:

使用感应性主题分析进行定性描述性研究设计.
在七个省份与30名加拿大参与者 (16名患者,14名护理人员) 进行了半结构化采访.
2019年4月至11月期间收集的数据,涵盖9种类型的LSD.

主要成果:

确定了五个主要主题:诊断的复杂性,医疗护理导航,心理社会/财务影响,社会支持的获取和孤儿药物获取.
揭示了在获得医疗保健和社会服务方面存在严重的延误和缺乏护理协调.
突出了获得孤儿药物的复杂过程和罕见疾病耻辱的经验.

结论:

加拿大患有LSD的患者面临着未满足的需求,需要超越孤儿药物之外的整体护理.
弥合卫生和社会护理之间的差距对于有效的罕见病患者管理至关重要.
调查结果为制定加拿大国家罕见病战略提供了关键的见解.

关键词:

访问访问访问访问医疗保健医疗保健医疗保健经验是生活的经验,是经验的经验.lysosomal 储存疾病 lysosomal 储存疾病孤儿药物是一种孤儿药物.患者倡导患者倡导患者参与患者参与罕见的疾病罕见的疾病退款退款退款退款社会护理社会护理

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