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2018.09.17

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#罕有病 #殘障

罕有病 Rare Diseases


簡介 Introduction

「罕見疾病」(「罕病」)泛指患病率極低、人數極少的疾病,而「孤兒藥」   是指一些藥用產品用於診斷、防預、治療危及生命或十分嚴重的罕見疾病。目前全球已知的罕見疾病約 6,000 多種。不少罕病是由基因突變或遺傳的基因缺陷導致,患者於幼年時,甚至於嬰孩時發病,絕大部分罕病都會對患者的健康構成嚴重及長期的威脅,部份甚至會致殘及致命 (香港01, 2017) 。 根據世界衛生組織的標準,每 1 萬人中只有 6.5-10 個個案的疾病,便定為罕病;美國以每 1 萬人少於 7 個個案,定為罕病;歐盟以每 1 萬人少於 5 個個案,定為罕病;台灣以每 1 萬人少於 1 個個案,定為罕病 (Shafie, 2016) 。 香港每年均有罕病新增個案,較多人認識的罕見病類包括:黏多醣症、龐貝氏症、小兒神經系統皮膚及關節綜合炎症、馬凡氏綜合症、結節性硬化症、骨髓纖維化、小腦萎縮症、肌肉萎縮症、法布瑞氏症、高球氏症、先天性代謝缺陷、線粒體疾病等,部份屬基因遺傳病,個案數目雖然不多,但對患者構成嚴重健康威脅,並給照顧者帶來沉重負擔 (Lee, 2017) 。 香港擁有國際認可的公共衛生政策,以及高質素的醫療系統,然而對於罕病的防治及保障,卻遠遠落後於歐美及亞洲鄰近地區。香港政府現時未為罕病訂立清晰定義,亦未制訂相關醫療及支援政策 (張超雄 , 2017) 。社會大眾甚至部份醫護人員及社會工作者,對罕病的認知亦非常缺乏 (am730, 2017) 。有關討論包括罕有病的政策及醫療發展、罕有病病人及家人的需要、優生學及安樂死的討 論 (Grue, 2010) 。
Rare disease refers to an uncommon disease with a very low prevalence and affects fewer people in the population. Orphan medicinal products has been developed specifically for diagnosis, prevention and treatment for life-threatening or debilitating rare diseases. Currently, there are more than 6,000 rare diseases known worldwide. Numerous of rare disease onset on toddler age and cause fatal and long-term threats to their health due to genetic mutations or defects (香港01, 2017). According to the standard of the World Health Organization, rare disease is classified when it affects 6.5-10 in 10,000 of the general population. In United States, less than 7 in 10,000 in the population. As defined by the European Union, one that affects less than 5 in 10,000 in the population is defined as a rare disease where in Taiwan, those which only affects less than 1 in 10,000 fits its classification (Shafie, 2016) .   In Hong Kong, the number of rare diseases patients increases every year. These members suffers from mucopolysaccharidosis, Pompe disease, Chronic Infantile Cutaneous and Articular Syndrome, Marfan syndrome, tuberous sclerosis, Myelofibrosis, Spinocerebellar Atrophy, muscular atrophy, Fabry disease, Gaucher's disease, inborn error of metabolism, mitochondrial disease and etc.  Some of them are rare genetic diseases which cause serious health threats to patients and create a burden to their caregivers (Lee, 2017).  Health policy and system in Hong Kong are internationally recognized but its prevention and cure for rare diseases is far behind many countries in Occident and Asia. The Hong Kong government has not yet established the definition and recognition of rare disease as well as its medical support policy ( 張超雄 , 2017). For medical professionals, social worker and general public, they are unfamiliar with rare diseases (am730, 2017). Discussion on rare disease includes development of rare disease policy and medical support, needs of rare disease patients and their family as well as controversy over eugenics and euthanasia (Grue, 2010) .

作者/Author: Carmen K.M. Yau

新聞及政府資訊 News&Government Information

am730. (2017, 2017-09-11, September 11). 罕病患者爭取多年 病人組織:政府「冷處理」. am730.
以脊髓肌肉萎縮症及地中海貧血症為例,近年醫學對多種遺傳病的產前檢查、診斷及治療都有突破進展。文中罕有病組織指政府應為罕有病建立「預防」至「補救」的政策,不但要為罕有病訂下定義,並要制定一連串的支援及治療的服務。
引文
黃惠鈴. (2015, 2015-09-01, September 01). 基因科技 訂作完美寶寶?. 天下雜誌.
「基因治療」可能變成罕見疾病的救星;未來,基因科技也會是「做人」的必要手段嗎?基因檢測的用途,包括發現胎兒有何種遺傳疾病;得以事先得知是否帶有某些可能傳給子代的致病基因;篩檢出有病的胚胎;在成人還未出現症狀前,找出遺傳疾病;幫助醫生確診,選擇對病人更有效的用藥,評估病人對治療的反應等。
引文
黃日新. (2018). 關注日籲正視 港常見罕有病患(上 ). 頭條日報.
大多數的罕有病患,都是屬於基因出了問題而病發,罕有病在研究、治療等方面都面對較大困難。首先,由於罕有病患者數量稀少,有很多病例在香港可能只有單位數個案的患者,令醫護人員較少機會接觸或熟悉這些疾病的治療方法,難以累積足夠經驗及提高療效。其次,因為患者稀少,從成本效益出發,研發機構多不願意投放資源來研發相關藥物,令這些治療藥物的研發周期及成本大增,而由於用量又少,每劑藥的價格相對地難免極為昂貴,普通人肯定無法長期負擔得來。
引文
李詠珊. (2018). 特稿:醫生跟到大 罕見病人成年盼留兒科 結節硬化涉多器官分散專科不利跟進. 明報.
既然藥到未必病除,當罕有病人有幸成長至成年,便要面對脫離兒科,有家長指在兒科可由一名醫生「由細看到大」,全面整全地診症,但轉至成人內科,病人未必每次由同一醫生診症,且被轉介至不同專科跟進,又要再輪候;有成人罕有病人更要在兒科才找到懂得診症的醫生。
引文
香港01. (2017). 【01觀點】罕有病患者的醫藥費 香港窮得付不起?. 香港01.
香港政府可斥巨資興建經濟效益成疑的大型基建,但對罕有病患者,香港政府並非無能力承擔他們的藥費,文中粗略計計算政府向患有罕見疾病病人資助預算,以及論述藥物名冊制度令香港罕有病患者得到不適切醫治,以及撒瑪利亞基金及關愛基金醫療援助項目當中非人性化的制度。
引文
張超雄. (2017). 設立200億「蒲公英藥物基金」  終止「有藥無錢醫」悲劇. 立場新聞.
醫院管理局的藥物名冊制度原意為統一公立醫院和診所的藥物政策和用藥,確保病人可獲處方具「成本效益」、且經過驗證安全和有效的藥物。可惜現實中,醫管局在名冊上設有種種行政限制,令系統變成「成本凌駕效益」。在現行機制下,把藥物納入藥物安全網的程序既繁複又欠缺效率,令藥物未能適時納入安全網。很多病人接受家庭為單位的資格評估,連家人生活質素因而下降,造成「三代窮貧」局面。
引文

學術文章 Academic Papers

Grue, L. (2010). Eugenics and euthanasia – then and now. Scandinavian Journal of Disability Research, 12(1), 33–45.
A main objective of this article is to give a presentation of the widespread acceptance of eugenics in the twentieth century and to show how the German euthanasia programmes were embedded in eugenic ideology. A second objective is to challenge the notion that eugenics and the practice of euthanasia on disabled people disappeared forever with the ending of the Second World War. The main reason for asking this question is to be found in today's medical practices in relation to inherited disorders and impairments, practices comprising both what can be labelled ‘eugenics light’ and euthanasia on newborns with congenital disorders.
引文
Lee, C. K. J. (2017). So rare, who cares? : a study of stress and coping of parents of children with rare diseases in Hong Kong.
In Hong Kong, the government has not established a definition for rare diseases or set up any policies for rare disease management. The stresses and adversities encountered by the families of children with rare diseases are unattended and hidden from society. This study examines the stresses encountered by families of children with rare diseases in Hong Kong and the ways of coping they employ to deal with these difficulties. The research aims to inform policymakers and healthcare professionals about the needs of these families, with recommendations for the support that should be provided.
引文
Schwartz, C. et al. (2017). Resilience to health challenges is related to different ways of thinking: mediators of physical and emotional quality of life in a heterogeneous rare-disease cohort. An International Journal of Quality of Life Aspects of Treatment, Care and Rehabilitation - Official Journal of the International Society of Quality of Life Research, 26(11), 3075–3088.
This study investigated whether resilience helps to explain the impact of health challenges on quality of life (QOL) outcomes, and how resilience relates to appraisal. Resilience was associated with better physical and emotional functioning, and different appraisal processes were associated with better or worse physical or emotional functioning. . Resilient people employ different appraisal processes than non-resilient people, and these processes differ for physical and emotional outcomes. Resilience was a stronger mediator of the relationship between physical rather than emotional functioning and appraisal.  
引文
Shafie, A. A. et al. (2016). State of rare disease management in Southeast Asia.(Report). Orphanet Journal of Rare Diseases, 11(1).
Rare diseases, also referred to as orphan diseases, are characterized by their low prevalence with majority of them are chronically debilitating and life threatening. This paper serves as the basis for a more active discussion on how countries in the region can address an under-recognised rare disease burden and enhance national and regional capacities.  Rare disease management initiatives across each country were examined based on the World Health Organization's framework for action in strengthening health systems.
引文

書籍 Books

行政院衛生署國民健康局. (2003). 小於萬分之一的世界 : 罕見疾病者的尊顔. 罕見疾病者的尊顔.
罕見疾病患者,是經常被社會所忽略與遺忘的一群人,他們不但是享用醫療資源的弱勢,奇特的疾病更常遭一般人所誤解而害怕接近,本書以寫真的方式,報導了五位罕見疾病患者的生命歷程與生活真實面貌,分別是:朱克勤—脊椎性小腦萎縮症、楊玉欣—三好氏肌肉萎縮症、沈佑霖—瓦登伯革氏症候群 、鄭煌清—成骨不全症 、宣宣—肝醣儲積症 。他們有各自不同的生命缺憾,但卻有著質地堅強的生命,最重要的是希望社會能夠真正理解並接納這些罕病患者,鼓勵他們走出陰暗,給他們一個新的明天與希望。 
引文
De La Paz, M. P. (2010). Rare Diseases Epidemiology.
 Rare Diseases Epidemiology offers numerous approaches to increase the knowledge base of rare diseases and conditions and to facilitate the development and dissemination of interventions for the prevention, diagnosis, or treatment of over 6500 diseases and conditions. Economic, societal, and ethical concerns are presented as patients and families encounter difficulties obtaining the correct diagnosis, gaining access to treatments, and receiving coverage or reimbursement for approved interventions, and for developing a public understanding of the costs to patients and their families and the burden of illness affecting the quality of life of millions of patients with rare diseases and conditions.
引文
Sireau, N. (2013). Rare diseases : challenges and opportunities for social entrepreneurs.
In recent years, there has been a surge of interest from business and social entrepreneurs in the field of health - including looking at ways to treat rare disease patients better and faster. This book presents some of the latest developments in the world of rare disease entrepreneurship from a global group of experts. It examines the topic from the business angle, considering the drug development process and providing case studies of successful orphan drug enterprises. It also looks at rare diseases from the perspective of the patient, analyzing the growing rare disease patient movement, a successful patient group that uses social enterprise techniques, and chapters on key requirements for helping patients with rare diseases through registries and centres of excellence.
引文

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