中國醫藥大學副校長蔡輔仁醫師投身罕病造福病患,榮獲第30屆醫療奉獻獎之殊榮

【記者 玉女 台中 報導】

中國醫藥大學副校長蔡輔仁醫師從醫34年,投入台灣罕見疾病的研究與醫療照護,不但與遺傳科共同拓荒的醫界夥伴、罕見疾病基金會等共同催生「罕見疾病防治及藥物法」,並且成立台灣第一個「罕病藥物物流中心」,以及「台灣罕見疾病組織資料庫」與國內醫界資源共享,嘉惠國內罕見疾病患者。

台灣早期罕見疾病患者因醫療不發達、診斷不易,醫療用藥需仰仗國外進口,藥物甚至一個月花一百萬元,患者根本吃不起救命藥,一旦被確診為罕見疾病,只能接受無藥可醫的命運。

蔡輔仁醫師說,他在1986年踏入職場,在中國醫藥大學附設醫院擔任兒科醫師,看到罕見疾病患者與家屬的心酸與無奈,不但診斷不易,即使費盡苦心診斷出來,結果也是難以治療,醫師也只能說抱歉,看到很多罕見疾病家族因此受苦,他毅然投身罕見疾病基因診斷與治療領域。

中國醫藥大學附設醫院在1990年一月成立小兒醫學遺傳科,1992年四月成立兒科遺傳實驗室,同年11月他受小兒科醫學遺傳委員會認可,成為全國第九位更是中部地區第一位醫學遺傳專科醫師。

「我看診時可以看到一家三代喔!」蔡輔仁醫師說,遺傳科醫生為了追查疾病脈絡,加上遺傳類疾病需要溯源基因問題,就像人類學者在歷史洪流追蹤家族譜系,疾病也有它的家族譜,即使病友人數相較他科少,遺傳發展跟很多疾病問題如神經、肌肉、心臟等都有密切的緊密關聯。

蔡輔仁醫師指出,遺傳科也是「重裝備」的科別,打的是背後資源戰,需要實驗室、團隊做後盾,他早期孤軍奮戰,送檢體到台大的老師王作仁教授或請陽明大學魏耀揮教授協助進行粒線體分析,也趁出國開會,寫信情商當地實驗室幫忙,出境時行囊裡裝著病患的檢體,回國時幫病患帶回藥物。

蔡輔仁醫師說,後期他寫論文、寫計畫申請購買診斷儀器,為病患診斷,再分析資料、寫論文,整合臨床與研究工作,並且在中國醫藥大學暨醫療體系董事長蔡長海的支持下,成立人類遺傳實驗室。

隨著基因醫學進步,他發現罕病在診斷上花時間外,還有種族差異的問題,應有本土專屬的基因診斷資料庫,因此致力運用分子生物學技術來分析台灣人的各種遺傳疾病,有助於診斷疾病、提供病友跟家屬遺傳諮詢服務、協助產前診斷等。

蔡輔仁醫師指出,目前中國醫藥大學附設醫院基因醫學部團隊已成功建立逾60種單基因遺傳疾病,發現破百的新突變點及種族特有突變點,例如高雪氏症亞洲患者L444P的常見突變點,建立台灣罕見疾病組織資料庫,透過資源共享,讓罕病研究在台灣發展日趨成熟。

蔡輔仁醫師認為,除了做到診斷之外,他更希望基因的檢測能更進一步發揮預警功能,於是與罕見疾病基金會合作推動了二代新生兒篩檢,從原本的5項擴展到21項。這個政策推動並非一蹴可及,而是先在原住民、低收入戶等少數族群做試驗,再寫成論文、提議變成一種政策。

台灣定義罕見疾病為發生率在萬分之一以下的疾病,罕病法自2000年實施至今,政府公告罕見疾病種類共有225種罕見疾病,過去因病例少,醫院沒有備藥,罕見疾病患者一旦確診後 ,治療藥物經專案進口申請,從找代理商、拿到藥,到送到病人手上,約需一個月到一個半月採購藥品,往往緩不濟急。

2001年,蔡輔仁醫師親自規劃、協助政府成立台灣第一個罕病藥物物流中心。蔡輔仁說,設立緣由為罕見疾病因為出現頻率少,醫師可能終其一生看不到某一類型的罕見疾病,醫院不可能為一名還沒出現的病患儲備藥物(因為藥物通常放到過期,病人都還沒出現),也進而造成藥商沒有進口該藥品之意願。

蔡輔仁醫師思考,設立罕病藥物物流中心的概念,是先由國家出資向國外買藥(或經由台灣代理商採購),挑選幾種罕見疾病患者需要用的藥物,約二名罕見疾病患者、4星期左右的藥物用量儲放在物流中心,一旦醫院有罕見疾病患者被診斷出來後,急需用藥時可以緊急提供,先使用物流中心儲備的藥品,這不但立即解決病患的用藥需求,如符合相關申請規定,則由衛生福利部國民健康署支付藥費。

蔡輔仁醫師說明,罕病藥物物流中心設立後,全國各醫院也就不需要建立沒有必要庫存,庫存只有集中在一個地方,讓所有藥物用量都儲放在物流中心內,各醫院需要用藥時,由罕病藥物物流中心統一供給,提升稀少藥品之管理效能;同時,也促成藥商進口用量稀少罕見疾病用藥之意願,嘉惠全國罕見疾病病人。

蔡輔仁醫師指出,四個星期左右的藥物用量,也足以讓醫院申請專案進口,來銜接這段空窗期,並且與醫院交換效期較長的備藥,藥物不會因此浪費,為台灣省下很多的錢、也照顧到罕見疾病患者,也解救很多緊張拿不到治療藥物的醫師,至今罕病藥物物流中心還在成功運作中。

蔡輔仁醫師說,台灣罕見疾病的診療雖然起步較晚,但在醫界、學會,與立委等爭取下,如今做的很周延。他很感謝當初和他在遺傳科共同拓荒的夥伴,以及罕見疾病基金會和黏多醣症協會基金會,是他行醫很大的動力。

蔡輔仁醫師指出, 他在遺傳科共同拓荒的夥伴經歷一個從無到有的年代,從早期診斷困難、拿不到藥物的年代,透過建立制度與爭取,只要爭取到一點點、有任何一絲絲美好環境、藥物和診斷的機會,我們都要心存感激。

蔡輔仁醫師說明,例如爭取到2000年「罕見疾病防治及藥物法」立法通過,嘉惠罕見疾病患者,「台灣罕見疾病組織資料庫」建立資源共享,以及國藥國製、鼓勵台灣藥商自製罕見疾病藥物等,目的在於建立一個讓下一代醫師、病患能處在一個「理所當然」美好環境裡,也就是醫師不需假手他人的醫療作業環境、病人可以得到好的診斷與治療。

蔡輔仁醫師認為,罕見疾病多是出自於基因突變,患者背負著人類演化的原罪在受苦,所以社會應當要好好幫助他們。在臨床互動方面,醫生需要做的,是實際去解決問題,幫病人診斷、治療、開藥。

蔡輔仁醫師指出,罕見疾病患者需要長期治療,且人數較少,所以整個醫療團隊和患者打成一片是常態,除了臨床上的交流,病患也常常和他分享日常生活的點點滴滴,所以醫病之間的關係也像熟識多年的老友。

綜觀蔡醫師的行醫生涯,幾乎是台灣罕病照護發展的縮影。一路走來,從篳路藍縷的病患照顧開始到參與罕病法的立法、首創罕病物流中心,解決缺藥問題、參與罕見疾病的認定與藥物的審查、與病友團體的互動、協助臨床遺傳檢驗機構的評審、教育,以及遺傳諮詢師的認證,以至於下一世代的遺傳專科醫師的培育,他都付出時間與心血,和台灣所有的遺傳專科醫師共同打拚,創造機會建立制度。他以兒科醫師專業做為背景,進入了遺傳的異業領域,再回到兒科醫師對照顧兒童的初衷,為罕見疾病的患者點上一盞不熄的燈,迎接他們回到人性深層的憐憫,努力提昇病友的生活品質,無論在醫療或是社會福利面向,都可以找回生命的尊嚴。疾病雖然罕見,但他的奉獻一點也不罕見。

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