罕見疾病病人及家屬對罕見疾病防治政策期待之調查

Rare Disease Patients and Their Families's Expectations on Rare Disease Control Policies

林宜信(I-Hsin Lin) ； 曾曉苓(Shiau-Ling Tseng)

《慈濟大學人文社會科學學刊》 15期 (2014/03) Pp. 37-70

https://doi.org/10.29650/TCUJHSS.201403_(15).0002

摘要

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園，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、個案及家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車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，在這「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。問卷結果顧示，有關罕見疾病病人及家屬對罕見疾病相關措施的便利性部分，有多數病人或家屬認為在尋找罕見疾病相關保健或遺傳諮詢（如婚前健康核查、遺傳診斷、新生兒篩檢、優生健康檢查、家庭計畫及家庭諮詢）時，覺得不容易；同樣的，病人或家屬也認為他們很需要政府主動提供罕見疾病相關保健或遺傳諮詢服務；而有關罕見疾病病人及家屬對罕見疾病病人更好的照護品質此項措施最期待。研究結果發現，罕見疾病政策與病友需求之間是有落差的，也建議政府末班在規劃任何罕見疾病相關政策與措施時，可與病友團體協商，透過病友團體來了解罕見疾病病人目前在生活上所遇到的問題，如此才能從罕見疾病人的需求角度去思考政策與措施。

關鍵字

罕見疾病 ； 罕見疾病防治及藥物法 ； 問卷調查

並列摘要

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. However, do the patients and their families receiving services can aware of the Government's efforts? Do they have the expectations and more constructive suggestions, in this ''Rare Disease Control and Orphan Drug Act＂? To develop the policies, the researcher be want to understand the thinking of rare disease patients and family members perspective through the study design. According to the results, there is a gap between the ＂Rare Disease Control and Orphan Drug Act＂ and the needs of patients. We suggested the government planning policies related to rare diseases, they can consult with patient groups, through rare disease patient groups to understand the patient problems is in life currently, so that it can from a rare disease patient perspective to think about policies and measures.

並列關鍵字

Rare diseases ； Rare disease control and drug law ； Questionnaires

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