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遺傳性表皮分解性水皰症(泡泡龍)

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遺傳性表皮分解性水皰症(泡泡龍)

[B][size="4"][color="Navy"]認識罕見遺傳疾病[/B]


罕見遺傳疾病不是怪病、更不應予以歧視。別因它「罕見」,就「輕忽」它。

「罕見疾病」,是生命傳承中的小小意外。人體內約有五到八萬個基因,藉著 DNA(去氧核醣核酸)準確的複製,把基因代代相傳。不過,其中幾個基因若發生變異,就可能在傳宗接代時,把缺陷的基因帶給子女,造成遺傳性疾病。

在台灣,罕見疾病的定義是發生率在萬分之一以下的疾病。全世界已知有一萬一千種人類遺傳疾病,其中大多非常罕見。目前由罕見疾病基金會掌握的八十九種疾病種類,約有三分之一僅一人罹患。罕見遺傳疾病發生機率雖小,卻是生命傳承中無可避免的遺憾。雖然這不幸只降臨在少數人身上,卻是每人都必須承擔的風險。

[B][color="navy"]罕見遺傳疾病個案
一覺到天亮,竟是奢求─與皮膚奮戰的小惠[/B]

小惠對自己幼年的印象,就是自己是個「特別的人」跑遍全麻豆的醫院、診所,仍治不了她全身上下起滿的水泡、血泡,與斑痕累累。小學時的她,上學前換紗布、包紮傷口,等到要出門血泡又破了,再塞上衛生紙,洗掉制服的血跡。裙下露出的雙腿,纏滿凹凸不平的繃帶再罩上長統襪。走到那兒,都得忍受眾人異樣的眼光。放學回家洗繃帶、收繃帶、捲繃帶,花個把鐘頭換藥,是每天的功課。小小年紀的她,只能用「哭」來解決一切,哭累了就睡,但體無完膚的痛,根本沒法兒入睡。「能夠睡一覺,是人生最大的奢求」,血水和淚水交織成小惠的童年。

國二那年,小惠被病痛折磨到想要自斷手腳,她關在房內寫遺書,隨著文字,回憶一一湧現,她驚覺到父母親毫無怨尤地付出十年,自己應該要努力活到父母臨走的那一天。自此,小惠放棄自殺念頭。到 22歲那年,姊姊在高醫當檢驗師,她才為自己的病找出答案。

二十四歲那年,是她人生的轉捩點。她因身體無法承受成衣廠的悶熱而辭去工作,她開始將心靈寄託於宗教,參與各項服務。奇蹟似地小惠臉上的水泡漸漸消退,她第一次看到自己原本的容貌,連左小腿也出現五平方公分的正常皮膚。「終於有臉見人」,小惠找到活下去的希望。十多載過去,現年三十八歲的她,無法完全擺脫遺傳的病痛,四、五年都無法癒合的傷口、四肢肌肉與口腔纖維化等,都還沒有治癒的特效藥。但小惠仍堅持站出來,她認為「為別人謀幸福的行動中,才能找到幸福」。以已見證,帶給別人希望,讓她有喜樂生活的目標。

[B][color="Navy"]遺傳性表皮分解性水皰症(泡泡龍)[/B]

體無完膚,可以說為先天性水泡症( Hereditary Epidermolysis Bullosa )下了最傳神的註解。一般人身上有個傷口,都得小心翼翼,更何況全身上下都是水泡傷口,這種二十四小時,活生生的折磨,是常人無法體會的痛苦。先天性水泡症是負責維繫皮膚表皮與真皮附著成份的基因產生突變遺傳,依照水泡破裂位置,分為單純型、接合型和失養型三大類,還細分為二十幾種亞型。主要症狀是:

全身各部位皮膚都有可能起水泡、血泡,較嚴重者,連口腔、食道、腸胃等黏膜部位也起泡。

[B][color="navy"]手指和腳指黏連成塊,指甲脫落。[/B]

長期會有貧血、營養不良、肢體萎縮、關節攣縮,甚至產生皮膚癌,必須截肢。

目前醫學無法根治泡泡龍,僅能以減少水泡的產生和避免皮膚傷口遭細菌感染為治療原則。正因為患者體無完膚,水泡無處不生,因此,除了皮膚科外,還須多科會診。耳鼻喉科治療喉嚨中水泡導致呼吸阻塞、食道狹窄;牙科治療齲齒;眼科治療角膜潰瘍;復健科協助避免肢體變形、製作輔具;以及營養科、整形外科與心理醫師專業的諮詢輔導。如此才能讓泡泡龍「痛」不欲生的程度,減至最低。

[B][color="navy"]掌握罕見遺傳疾病[/B]
擁有一個健康寶寶是何等幸福。雖然我們無法抗拒生命傳承中偶發的遺憾,但是,別輕易放棄對「罕見疾病」知的權利與愛的義務。

未罹患罕見疾病的多數社會大眾:敞開心胸認識罕見疾病,給予患者多一些關懷與尊重。

已罹患罕見疾病者:正確認識自身疾病的成因,把握治療契機。

[B][color="navy"]準備孕育下一代的準父母: [/B]

無家族病史者─配合產前檢查,但仍有百分之三的機率產出缺陷兒,其中又有百分之零點五至一,可能患有罕見遺傳疾病。這是生兒育女無可避免的風險。

有家族病史者─做產前遺傳檢查、諮詢與生化遺傳檢驗,以獲得充分之資訊,決定是否生育。若選擇懷孕,可於懷孕期追蹤胎兒的遺傳狀況,若此胎罹患遺傳疾病,則應尋求專業諮詢,以評估自身狀況與未來照護能力,決定是否生下胎兒。

每個小生命都是獨特且彌足珍貴的;在遺傳醫學日新月異下,即使有小小的缺憾,若能及早發現,便可把握契機進行早期療育。對生命的堅持,無悔的付出,才是為人父母至愛的表現。

摘錄自衛生署與財團法人罕見疾病基金會"遺傳性表皮分解性水泡症"
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遊迪士尼 泡泡龍病友興奮成行

一群「泡泡龍」病患,搭機前往香港迪士尼,一圓出國旅遊之夢。

三十二位泡泡龍病友及家屬,昨日上午搭機前往香港迪士尼樂園,儘管全身常常冒出水泡、苦不堪言,但一想到能夠出國,每位泡泡龍都好開心,還有小朋友幾天前就開始打包行李,興奮得睡不著覺。



在「罕見疾病基金會」、美商如新華茂的努力和贊助下,十五個家庭,包括三十二位病友及家屬,昨日上午分別由中正及高雄小港機場搭機前往香港。

俗稱「泡泡龍」的先天性表皮分解性水泡症,並非傳染病,患者全身容易長滿水泡,連口腔、食道、眼角膜等黏膜也無法倖免,炎熱天氣對患者來說更為痛苦,目前醫學無法根治泡泡龍,僅能盡量減少新水泡及避免破皮及傷口感染。

由於泡泡龍病患外觀特殊,許多人往往都會對病患投以異樣眼光,這次病友們能一起「出門」,也希望外界能夠多了解這種罕見疾病,讓患者可以適應社會生活。

帶一堆藥品 還是很開心

泡泡龍病友聯誼會會長、也是病患家屬林錦貴女士表示,許多泡泡龍病友因為身體到處長水泡、受傷,平常吃飯、拿東西、走路可能都有困難,嚴重一點的甚至要坐輪椅,每天也要花二、三個小時來敷藥,生活都這麼困難,出國更是想都不敢想的事,這一次能夠出國增廣見聞,雖然要帶著一堆藥品、紗布出國,但是大家都非常開心。

記者姚介修攝 記者姚介修/中正機場報導

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另外一位高冠宇小朋友也受此病之苦.須仰賴社會的資助,方可度過難關。
http://p871020.myweb.hinet.net/961031.htm
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