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.
来自加拿大渥太华的 16 个月大的女孩艾拉·巴希尔 (Ayla Bashir) 在出生前医生使用一种新方法对她进行了治疗后，她现在很健康。她患有一种罕见的遗传病，导致她的两个姐妹丧生。
 
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.
这种称为 Pompe 的疾病会导致身体无法制造部分或全部重要酶。但是一项新的案例研究描述了似乎对 Ayla 有效的新治疗方法。
 
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诉美联社，他们的女儿现在是一个活跃、快乐的女孩，成长正常。
 
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.
这对夫妇此前曾因这种情况失去了两个女儿，分别是 2 岁的 Zara和8 个月大的 Sara。第三次怀孕因疾病或障碍而终止。
 
The future for Ayla is hopeful but uncertain.
Ayla 的未来充满希望，但充满不确定性。
 
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 医生是渥太华医院的胎儿医学专家。她给艾拉治疗。新方法由加州大学旧金山分校母胎精准医学中心联合主任 Tippi MacKenzie 博士开发。
 
MacKenzie shared her research with Fung-Kee-Fung. "We were all motivated to make this happen for this family," MacKenzie said.
MacKenzie 与 Fung-Kee-Fung 分享了她的研究。 “我们都有动力为这个家庭实现这一目标，”麦肯齐说。
 
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.
在这种情况下，医生通过她的胃将重要的酶输送给母亲。然后将酶导入脐带。艾拉每两周接受六次治疗，从胎儿发育约 24 周开始。
 
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.
多年来，Pranesh Chakraborty 医生一直在照顾 Ayla 的家人。他告诉美联社，使治疗非常有效的原因是尽早完成治疗，而胎儿仍在发育。
 
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 影响不到 100,000 名新生儿中的 1 名。它是由一种基因的变化引起的，这种基因会产生一种酶，这种酶可以分解细胞中的糖原或储存的糖分。当这种酶减少或去除时，糖原就会在全身危险地积聚。
 
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，受影响最严重的婴儿，包括 Ayla，都有一种免疫状况，在这种情况下，他们的身体会阻止治疗酶。这最终会使治疗停止工作。希望 Ayla 的早期治疗能够减少这种免疫反应。
 
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.
患有庞贝病的婴儿喂养困难并且肌肉无力。他们通常有非常大的心脏。如果不及时治疗，大多数婴儿会在出生后的第一年死于心脏或呼吸问题。除了遇难的女孩外，艾拉的父母还有一个13岁的儿子和一个5岁的女儿。这些孩子都没有受到这种疾病的影响。
 
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，医生们正在观望这种疗法能否成为一种普遍接受的治疗方式。 Christina Lam 博士是西雅图华盛顿大学和西雅图儿童医院的生化遗传学专家。她说，需要一些时间才能清楚地证明新疗法的结果是否对患者更好。
 
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) 接受免疫系统药物治疗和每周需要五到六个小时的酶治疗。除非找到新的方法，否则 Ayla 很可能会终生接受治疗。
 
Her parents say that every step of progress, such as when she started to crawl, has been very special.
她的父母说，她的每一步进步，比如她开始爬行，都非常特别。
 
"It amazes us every time," said her mother, Sobia Qureshi. "We're so blessed. We've been very, very blessed."
“每次都让我们惊叹不已，”她的母亲索比亚·库雷希 (Sobia Qureshi) 说。 “我们太幸运了。我们一直非常非常幸运。”