每年2月的最后一天是"国际罕见病日"。在我国，罕见病患者已超2000万，构成了一个不可忽视的群 体。在全球所有已知的罕见病中，存在有效治疗手段的仅约5%。而诊疗过程中，42%的患者经历过误 诊，平均确诊时间为4.26年，这更加重了患者的诊疗负担。 研究显示，罕见病带来的疾病负担远高于常见疾病，因病致贫率在我国超过了35%。同时，对患者家庭 和社会而言，罕见病导致的肢体残疾、心理折磨、自理能力丧失，阻碍了患者回归社会，这也导致整个 家庭需要承担无休止的照料责任与精神压力。医疗卫生体系亟待填补这一保障缺口。 为此，世界卫生组织于2025年第一次将罕见病列为全球卫生公平和包容的优先事项，敦促各成员国制定 国家罕见病健康计划，内容包括提升诊断水平、提供可负担的治疗，以及出台更多支持研究和创新的政 策。这也为中国罕见病诊疗保障体系的完善指明了方向。 近年来，我国在罕见病领域的进步有目共睹。《2026罕见病行业趋势观察报告》显示，2025年中国罕见 病治理正经历一场深刻的系统性变革，各主要领域均有突破。截至 2025年底，已有71种罕见病的140种 药物纳入医保目录。2025年12月，国家医保局、人力资源社会保障部发布" ...

Core Viewpoint - The establishment of a national rare disease special fund is essential to address the payment challenges associated with rare disease medications, as highlighted by the increasing number of drugs included in the medical insurance catalog but facing high costs that limit accessibility [1][2]. Group 1: Current Situation and Challenges - The Chinese government has shown increasing attention to rare diseases, with the introduction of the first and second batches of rare disease catalogs in 2018 and 2023, respectively [1]. - Despite the growing number of rare disease medications approved for inclusion in medical insurance, high-cost drugs remain difficult to incorporate into the catalog, leading to a growing contradiction between the availability of drugs and payment guarantees [1][2]. Group 2: Local Initiatives and Their Impact - Zhejiang Province established a rare disease medication guarantee special fund in December 2019, serving as a model for other regions and introducing a personal payment cap to alleviate patient burdens [2]. - Jiangsu Province has proposed a clear mechanism for rare disease medication guarantees, emphasizing a multi-channel funding approach involving government, market entities, and charitable organizations [2]. Group 3: Proposed Solutions and Benefits - The establishment of a national rare disease special fund could enhance the fairness and efficiency of medical insurance coverage for rare diseases and innovative drugs, ensuring that urgently needed foreign drugs reach domestic patients [3]. - A special fund would diversify funding sources and engage social resources in supporting rare disease medication, thus not relying solely on existing medical insurance funding models [3]. - Increasing public awareness of rare diseases and supporting local innovation in drug development are additional benefits of establishing a special fund [3].