动辄百万元，罕见病治疗“有药难用”，专家呼吁成立罕见病专项基金

Core Viewpoint - The article emphasizes the need for a stable multi-party payment system to ensure the treatment of rare disease patients, highlighting the challenges of high-cost medications and the necessity for a dedicated fund to support these patients [1][4]. Group 1: Rare Disease Definition and Current Challenges - Rare diseases are defined as those with an incidence of less than 1 in 10,000 and affecting fewer than 140,000 individuals [1]. - Despite the inclusion of some high-value rare disease medications in the national insurance list, significant financial burdens remain for patients requiring long-term treatment [2]. - The high costs of rare disease medications make it difficult to fully integrate them into basic medical insurance, and existing commercial insurance options are often inadequate [2][4]. Group 2: Case Study of Gaucher Disease - Gaucher disease, caused by mutations in the GBA gene, can lead to severe health complications and has annual treatment costs exceeding one million yuan [3]. - In 2020, approximately 3,000 individuals in China were diagnosed with Gaucher disease, which has been included in the national rare disease directory [3]. - Shanghai has pioneered a multi-channel support model for Gaucher disease, combining temporary procurement, corporate assistance, and charitable funds to ensure patient access to necessary medications [3]. Group 3: Need for a Specialized Fund - Experts advocate for the establishment of a rare disease special fund to provide stable financial support, as current mechanisms are insufficient for long-term patient care [4][6]. - The proposed fund would address the challenges of financing and operational efficiency, integrating various existing support systems to enhance overall effectiveness [6]. - Local governments, such as those in Jiangsu and Zhejiang provinces, have begun to establish their own rare disease funds, with Zhejiang being the first to implement a dedicated mechanism in 2019 [5]. Group 4: Policy Recommendations - The upcoming national policy discussions are expected to focus on the establishment of provincial-level rare disease funds to support treatment and rehabilitation needs, particularly for high-value medications not covered by national insurance [5]. - The establishment of a special fund is seen as essential for creating a stable and coordinated support system for rare disease patients, addressing the unique challenges posed by the high costs of treatment [6].