我國自2000年施行「罕見疾病防治及藥物法」以來，成為世 界上第5個有專法保障的國家，至今共完成公告184種罕病、74 項罕病藥物及40項維持生命所需之特殊營養食品；將罕病列入重 大傷病範圍，免除病患就醫之部分負擔；並每年編列預算補助供 應罕病患者維持生命所需之特殊營養食品及緊急用藥，提供醫療 合作代行檢驗、個案及冢屬遺傳診斷及諮詢等相關服務，使罕病 病友能獲得完善的照護。然而政府對罕病工作所做的努力，接受 服務的病人及其家屬對政策之看法如何？其需求如何？是否有期 待及更具建設性的建議，在道「罕見疾病防治及藥物法」施行10 週年之際，實有必要更進一步的瞭解。

Taiwan(R.O.C.) government had applied the “Rare Disease Control and Orphan Drug Act” since 2000, to protect the peoples. Taiwan is the fifth country that special law，in the word. The government has completed a total on Notice 184 rare disease，74 rare disease drugs and 40 essential of the special dietary foods，in the past ten years. The government had put rare disease following into catastrophic range, to eliminating the patient medical treatment of some of the burden also. The bureau of health promotion department of health uses the council annual series following the budget subsidy. To supply for rare diseases，in clouding the special nutritional food and emergency medicine, and provide medical cooperation on behalf of the behavior test，cases and Genetic diagnosis and counseling the families of related services to enable access to rare disease patients improve care.