2022年11月16日 VOA慢速英語(yǔ)：醫(yī)生首次在出生前治療致命疾病

 

Ayla Bashir, a 16-month-old girl from Ottowa, Canada, is healthy after doctors used a new method to treat her before she was born. She has a rare genetic disease that killed two of her sisters.
來自加拿大渥太華的 16 個(gè)月大的女孩艾拉·巴希爾 (Ayla Bashir) 在出生前醫(yī)生使用一種新方法對(duì)她進(jìn)行了治療后，她現(xiàn)在很健康。她患有一種罕見的遺傳病，導(dǎo)致她的兩個(gè)姐妹喪生。
 
The disease, called Pompe, causes the body to fail to make some or all of an important enzyme. But a new case study describes the new treatment method that seems to be working for Ayla.
這種稱為 Pompe 的疾病會(huì)導(dǎo)致身體無法制造部分或全部重要酶。但是一項(xiàng)新的案例研究描述了似乎對(duì) Ayla 有效的新治療方法。
 
The young girl's parents recently told The Associated Press their daughter is now an active, happy girl who is growing normally.
小女孩的父母最近告訴美聯(lián)社，他們的女兒現(xiàn)在是一個(gè)活躍、快樂的女孩，成長(zhǎng)正常。
 
The couple previously lost two daughters, Zara, 2½, and Sara, 8 months, to the condition. A third pregnancy was ended because of the disease, or disorder.
這對(duì)夫婦此前曾因這種情況失去了兩個(gè)女兒，分別是 2 歲的 Zara和8 個(gè)月大的 Sara。第三次懷孕因疾病或障礙而終止。
 
The future for Ayla is hopeful but uncertain.
Ayla 的未來充滿希望，但充滿不確定性。
 
Dr. Karen Fung-Kee-Fung is a medicine specialist who works with fetuses at The Ottawa Hospital. She gave Ayla her treatments. The new method was developed by Dr. Tippi MacKenzie, co-director of the Center for Maternal-Fetal Precision Medicine at the University of California, San Francisco.
Karen Fung-Kee-Fung 醫(yī)生是渥太華醫(yī)院的胎兒醫(yī)學(xué)專家。她給艾拉治療。新方法由加州大學(xué)舊金山分校母胎精準(zhǔn)醫(yī)學(xué)中心聯(lián)合主任 Tippi MacKenzie 博士開發(fā)。
 
MacKenzie shared her research with Fung-Kee-Fung. "We were all motivated to make this happen for this family," MacKenzie said.
MacKenzie 與 Fung-Kee-Fung 分享了她的研究。 “我們都有動(dòng)力為這個(gè)家庭實(shí)現(xiàn)這一目標(biāo)，”麥肯齊說。
 
In this case, doctors delivered important enzymes to the mother through her stomach. The enzymes were then guided into the umbilical cord. Ayla received six treatments every two weeks, starting at about 24 weeks of fetal development.
在這種情況下，醫(yī)生通過她的胃將重要的酶輸送給母親。然后將酶導(dǎo)入臍帶。艾拉每?jī)芍芙邮芰沃委煟瑥奶喊l(fā)育約 24 周開始。
 
Dr. Pranesh Chakraborty has cared for Ayla's family for years. He told the AP that what made the treatment highly effective was completing it early, while the fetus was still developing.
多年來，Pranesh Chakraborty 醫(yī)生一直在照顧 Ayla 的家人。他告訴美聯(lián)社，使治療非常有效的原因是盡早完成治療，而胎兒仍在發(fā)育。
 
Pompe affects fewer than 1 in 100,000 newborns. It is caused by changes in a gene that makes an enzyme that breaks down glycogen, or stored sugar, in cells. When that enzyme is reduced or removed, glycogen builds up dangerously throughout the body.
Pompe 影響不到 100,000 名新生兒中的 1 名。它是由一種基因的變化引起的，這種基因會(huì)產(chǎn)生一種酶，這種酶可以分解細(xì)胞中的糖原或儲(chǔ)存的糖分。當(dāng)這種酶減少或去除時(shí)，糖原就會(huì)在全身危險(xiǎn)地積聚。
 
In addition, the most severely affected babies, including Ayla, have an immune condition in which their bodies block the treatment enzymes. This eventually stops the treatment from working. The hope is that Ayla's early treatment will reduce that immune response.
此外，受影響最嚴(yán)重的嬰兒，包括 Ayla，都有一種免疫狀況，在這種情況下，他們的身體會(huì)阻止治療酶。這最終會(huì)使治療停止工作。希望 Ayla 的早期治療能夠減少這種免疫反應(yīng)。
 
Babies with Pompe disease have trouble feeding and experience muscle weakness. They often have very enlarged hearts. When left untreated, most babies die from heart or breathing problems during the first year of life. In addition to the girls who died, Ayla's parents have a 13-year-old son and a five-year-old daughter. Neither of those children were affected by the disorder.
患有龐貝病的嬰兒喂養(yǎng)困難并且肌肉無力。他們通常有非常大的心臟。如果不及時(shí)治療，大多數(shù)嬰兒會(huì)在出生后的第一年死于心臟或呼吸問題。除了遇難的女孩外，艾拉的父母還有一個(gè)13歲的兒子和一個(gè)5歲的女兒。這些孩子都沒有受到這種疾病的影響。
 
For now, doctors are waiting to see whether the treatment can become a generally accepted form of treatment. Dr. Christina Lam is a biochemical genetics specialist at the University of Washington and Seattle Children's Hospital in Seattle. She said it will take some time to clearly demonstrate whether the results of the new treatment are better for patients.
目前，醫(yī)生們正在觀望這種療法能否成為一種普遍接受的治療方式。 Christina Lam 博士是西雅圖華盛頓大學(xué)和西雅圖兒童醫(yī)院的生化遺傳學(xué)專家。她說，需要一些時(shí)間才能清楚地證明新療法的結(jié)果是否對(duì)患者更好。
 
Ayla receives drugs for her immune system and weekly enzyme treatments that take five to six hours. Unless a new method is found, Ayla is likely to continue the treatments throughout her life.
艾拉 (Ayla) 接受免疫系統(tǒng)藥物治療和每周需要五到六個(gè)小時(shí)的酶治療。除非找到新的方法，否則 Ayla 很可能會(huì)終生接受治療。
 
Her parents say that every step of progress, such as when she started to crawl, has been very special.
她的父母說，她的每一步進(jìn)步，比如她開始爬行，都非常特別。
 
"It amazes us every time," said her mother, Sobia Qureshi. "We're so blessed. We've been very, very blessed."
“每次都讓我們驚嘆不已，”她的母親索比亞·庫(kù)雷希 (Sobia Qureshi) 說。 “我們太幸運(yùn)了。我們一直非常非常幸運(yùn)。”