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A 2-year-old girl in the United Kingdom has an extremely rare genetic disorder that’s said to be a form of the so-called “Benjamin Button disease.”

英國一名兩歲女孩患有一種極為罕見的遺傳病,據說這種病屬于所謂的“本杰明·巴頓病”。



Isla, who has only recently begun to crawl and weighs just 15 pounds, was born in February 2017. She arrived weighing 5 pounds and 10 ounces, her mother, Stacey, 33, told SWNS, a British news agency. She was not diagnosed with mandibuloacral dysplasia until October of that same year.

艾拉出生于2017年2月,她最近才開始爬行,體重只有15磅。她的母親、33歲的斯泰西告訴英國通訊社SWNS,艾拉出生時重5磅10盎司。直到同年10月,她才被診斷出患有下頜骨發育不良。

“We nearly lost her — she was fighting against everything they were trying to do,” said Stacey. "She was incubated for the first five days of her life and put in an induced coma, so we were unable to hold her.”

“我們幾乎失去了她——她一直在與他們試圖做的一切抗爭,”斯泰西說?!八錾蟮那?天都是在人工培養的環境中度過的,所以我們無法抱她?!?br />


Isla Kilpatrick-Screaton from Leicester, UK, who was born with an allegedly never-before recorded form of mandibuloacral dysplasia. (SWNS)

來自英國萊斯特的Isla Kilpatrick-Screaton,出生時就患有一種據說從未有過記錄的下頜骨發育不良。(SWNS)

Just six days after bringing Isla home, Stacey said she and her husband Kyle, 36, were forced to call emergency officials when Isla began to choke.

斯泰西表示,她和36歲的丈夫凱爾把艾拉帶回家才6天,艾拉開始出現呼吸阻滯,他們不得不打電話給急救人員。

“We had to ring an ambulance after six days because she started choking, spluttering and turning blue when we were bottle-feeding her. One of us would do CPR while the other held the phone. It was awful for our daughter Paige to see,” she said of the couple’s other child, who is 7.

“六天后,我們不得不給救護車打電話,因為當我們用奶瓶給她喂奶時,她開始哽咽,說話斷斷續續,臉色發青。我們一個人做心肺復蘇,另一個人打電話。我們的女兒佩奇看到了這可怕的一幕,”她說的佩奇是他們的另一個7歲的孩子。

“In the hospital, they managed to clear her airways and she spent another two weeks there,” she continued.

斯泰西補充道:“在醫院里,醫生設法清理了她的呼吸道,艾拉又在醫院呆了兩周?!?br />
Months later, the family finally received their daughter’s diagnosis.

幾個月后,這家人終于收到了女兒的診斷報告。



Isla with her mom Stacey. (SWNS)

艾拉和她的媽媽斯泰西



“Her symptoms are narrow airways; pale, thin skin and a small jaw which means her tongue is far back in her throat, which can stop her breathing,” her mother said. “She sees about 12 consultants, has from one to six appointments a week and has a whole cabinet of medical records."

艾拉的母親說:“艾拉的癥狀是呼吸道狹窄;她的皮膚又白又薄,下巴又小,這意味著她的舌頭在喉嚨里伸得很遠,這會阻止她呼吸,艾拉約有12名咨詢師,每周有一到六次預約,還有一整套醫療過程?!?br />


Isla with her parents Stacey and Kyle and sister Paige. (SWNS)

艾拉和她的父母斯泰西以及姐姐佩奇

“She can’t cry so when she sleeps she’s attached to a heart monitor and an alarm goes off when she wakes up. This means we can sleep at night.”

“她不能哭,所以當她睡覺的時候,會連著一個心臟監測器,一旦她醒來,警報就會響起。這使得我們晚上可以放心睡覺?!?br />
Despite everything, Stacey, who now works as Isla''s full-time aide, said her youngest daughter “is very expressive and communicative” and is a “happy little girl.” But, she noted, "it takes a lot out of the family.”

盡管如此,斯泰西現在是艾拉的全職助手,她說她的小女兒“非常善于表達和交流”,是一個“快樂的小女孩”。但她指出,“這讓家庭付出了很多?!?br />
"We''re told her condition isn''t life-limiting but we just don''t know for sure as her case is so unique,” said Kyle of his “extremely small and frail” daughter.

對于“這么幼小和虛弱”的女兒,凱爾說:“醫生告訴我們,這種病不會影響艾拉的壽命,但我們還是無法確定,畢竟她的情況是如此特殊?!?br />
"We have been left in the dark somewhat. We have been told its mandibuloacral dysplasia of which there are usually two types A or B. But Isla doesn''t fall into either of these categories so we don''t entirely know where we stand," he said. "There''s not really any support available so we just take it day by day.”

凱爾表示:“我們有點不知所措。我們被告知下頜骨發育不良通常是A型或B型。但Isla不屬于這兩類,所以我們不完全知道處于什么樣的境地,沒有任何實質的支持,我們只能日復一日地負重前行?!?br />