美国国家公共电台 NPR Medical Detectives: The Last Hope For Families Coping With Rare Diseases

 

STEVE INSKEEP, HOST:

Doctors are solving health mysteries for families who've run out of options. These specialists across the country form what is called the Undiagnosed Disease Network. This sounds almost like a television drama, but this is very real life. They recently cracked the perplexing case of two boys in Northern California. Lesley McClurg from member station KQED has the story.

LESLEY MCCLURG, BYLINE¹: On a cold, dark morning, Chase Miller² peeks³ out from under his covers, and he peers curiously⁴ at my microphone with a big smile.

NIKKI MILLER: Chasey-pie? Chase? You want to say hi? This is Lesley.

MCCLURG: Nikki, Chase's mom, gently lowers the thin boy to the floor. He's 5. She lays him on his back because he can't sit or stand. Then Nikki goes to the same routine with her other blue-eyed, blond son, Carson. He's 7.

N MILLER: Carson. There we go.

MCCLURG: Carson's legs jerk randomly⁵, and Nikki struggles to pull on a stiff leg brace⁶. She wipes her brow.

N MILLER: This is a workout. This life is a workout for sure.

MCCLURG: Nikki never imagined their morning routine would include electric lifts and two boys strapped⁷ into wheelchairs who still require spoon-feeding.

N MILLER: OK, guys. It's 7:40. So about a couple more minutes, and then I'm going to start getting you guys cleaned up.

DANNY MILLER: It is much easier when you wake up to those beautiful, brilliant smiles every morning - every morning.

MCCLURG: That's Danny Miller, the boys' father. Seven years ago, he and Nikki began noticing their first son wasn't reaching milestones⁸ like rolling over or crawling. Instead, their baby was...

D MILLER: Fisting, spastic movements, tight movements.

MCCLURG: And then at about a year, their son was misdiagnosed with cerebral⁹ palsy. And then when the same developmental delays emerged in their second newborn, they started asking more questions. And they spent the next four years getting test after test after test.

D MILLER: It can be a very lonely experience.

MCCLURG: Each specialist shrugged¹⁰ their shoulders.

D MILLER: It's really tough because as a parent, you blame yourself. What did I do wrong? You know, is there something wrong with my genes¹²?

MCCLURG: Finally, two years ago, the family heard about a group of doctors known for sleuthing the toughest cases, the Undiagnosed Disease Network. It's funded by the National Institutes of Health. Euan Ashley heads up one of the country's 12 clinics at Stanford University.

EUAN ASHLEY: It was like "Sherlock Holmes." Patients would come with mystery diseases, and we would try to solve them.

MCCLURG: And how common are these patients that you're seeing?

ASHLEY: The remarkable¹³ thing is that although individually rare diseases are rare, collectively they're very common. In fact, 1 in 20 people in the population has a rare disease.

MCCLURG: To unlock the Miller case, Ashley recommended a complete genome sequencing for each family member. He pulls out his laptop to point out what the test revealed.

ASHLEY: So what you're looking at, four genomes on one screen.

MCCLURG: Each is a long string of letters that is code for our DNA¹⁴. He's looking for a letter where it shouldn't be, what they call a variant¹⁵.

ASHLEY: And you can see in the colored section, same gene¹¹ was hit by two variants¹⁶, one from Mom, one from Dad.

MCCLURG: So their whole lives are affected¹⁷ by a misspelling.

ASHLEY: Yeah. One letter out of 6 billion can cause these incredibly devastating¹⁸ diseases.

MCCLURG: The misspelling is why Carson and Chase have a brain disease called MEPAN syndrome¹⁹. Their genetic²⁰ mutation²¹ affects the part of the brain that controls movement. There's only one scientific paper that's been published about it.

D MILLER: And aside from that, there was nothing else out there.

MCCLURG: Danny has only found 13 other people in the world who have it. There's no current treatment for the degenerative disease. And even though the boys' minds are cognitively²² sound, their bodies will eventually fail them, so doctors hope a hefty dose of daily vitamins and supplements will slow their brain decline. The boys are also in therapy to strengthen muscles and to give them life skills.

D MILLER: We have PT and OT and speech.

MCCLURG: Recently, on a computer which helps the boys communicate, Carson...

D MILLER: He built a sentence that said, I hate my wheelchair because I know that he wants to be up running around, playing tag and hide-and-seek with the other kids. That might not be how things work out, but I'm going to do everything in my power to try and make sure that that does happen.

MCCLURG: The first step was knowing what was wrong. The network of disease detectives have solved about a third of their patient cases and named 31 new syndromes²³ in the first few years of the program. And once there's a diagnosis²⁴, then it's a lot easier to attract scientific interest and someday potentially more cures. For NPR News, I'm Lesley McClurg in Marin County.

1 byline   

n.署名；v.署名

参考例句：

• His byline was absent as well.他的署名也不见了。
• We wish to thank the author of this article which carries no byline.我们要感谢这篇文章的那位没有署名的作者。

2 miller   

n.磨坊主

参考例句：

• Every miller draws water to his own mill.磨坊主都往自己磨里注水。
• The skilful miller killed millions of lions with his ski.技术娴熟的磨坊主用雪橇杀死了上百万头狮子。

3 peeks   

n.偷看，窥视( peek的名词复数 )v.很快地看( peek的第三人称单数 )；偷看；窥视；微露出

参考例句：

• A freckle-face blenny peeks from its reef burrow in the Solomon Islands. 奇特的海生物图片画廊。一只斑点面容粘鱼窥视从它的暗礁穴在所罗门群岛。 来自互联网
• She peeks at her neighbor from the curtain. 她从窗帘后面窥视她的邻居。 来自互联网

4 curiously   

adv.有求知欲地；好问地；奇特地

参考例句：

• He looked curiously at the people.他好奇地看着那些人。
• He took long stealthy strides. His hands were curiously cold.他迈着悄没声息的大步。他的双手出奇地冷。

5 randomly   

adv.随便地，未加计划地

参考例句：

• Within the hot gas chamber, molecules are moving randomly in all directions. 在灼热的气体燃烧室内，分子在各个方向上作无规运动。 来自辞典例句
• Transformed cells are loosely attached, rounded and randomly oriented. 转化细胞则不大贴壁、圆缩并呈杂乱分布。 来自辞典例句

6 brace   

n. 支柱,曲柄,大括号; v. 绷紧,顶住,(为困难或坏事)做准备

参考例句：

• My daughter has to wear a brace on her teeth. 我的女儿得戴牙套以矫正牙齿。
• You had better brace yourself for some bad news. 有些坏消息,你最好做好准备。

7 strapped   

adj.用皮带捆住的，用皮带装饰的；身无分文的；缺钱；手头紧v.用皮带捆扎(strap的过去式和过去分词)；用皮带抽打；包扎；给…打绷带

参考例句：

• Make sure that the child is strapped tightly into the buggy. 一定要把孩子牢牢地拴在婴儿车上。 来自《简明英汉词典》
• The soldiers' great coats were strapped on their packs. 战士们的厚大衣扎捆在背包上。 来自《简明英汉词典》

8 milestones   

n.重要事件( milestone的名词复数 )；重要阶段；转折点；里程碑

参考例句：

• Several important milestones in foreign policy have been passed by this Congress and they can be chalked up as major accomplishments. 这次代表大会通过了对外政策中几起划时代的事件，并且它们可作为主要成就记录下来。 来自《简明英汉词典》
• Dale: I really envy your milestones over the last few years, Don. 我真的很羡慕你在过去几年中所建立的丰功伟绩。 来自互联网

9 cerebral   

adj.脑的，大脑的；有智力的，理智型的

参考例句：

• Your left cerebral hemisphere controls the right-hand side of your body.你的左半脑控制身体的右半身。
• He is a precise,methodical,cerebral man who carefully chooses his words.他是一个一丝不苟、有条理和理智的人，措辞谨慎。

10 shrugged   

vt.耸肩（shrug的过去式与过去分词形式）

参考例句：

• Sam shrugged and said nothing. 萨姆耸耸肩膀，什么也没说。
• She shrugged, feigning nonchalance. 她耸耸肩，装出一副无所谓的样子。 来自《简明英汉词典》

11 gene   

n.遗传因子，基因

参考例句：

• A single gene may have many effects.单一基因可能具有很多种效应。
• The targeting of gene therapy has been paid close attention.其中基因治疗的靶向性是值得密切关注的问题之一。

12 genes   

n.基因( gene的名词复数 )

参考例句：

• You have good genes from your parents, so you should live a long time. 你从父母那儿获得优良的基因，所以能够活得很长。 来自《简明英汉词典》
• Differences will help to reveal the functions of the genes. 它们间的差异将会帮助我们揭开基因多种功能。 来自英汉非文学 - 生命科学 - 生物技术的世纪

13 remarkable   

adj.显著的，异常的，非凡的，值得注意的

参考例句：

• She has made remarkable headway in her writing skills.她在写作技巧方面有了长足进步。
• These cars are remarkable for the quietness of their engines.这些汽车因发动机没有噪音而不同凡响。

14 DNA   

(缩)deoxyribonucleic acid 脱氧核糖核酸

参考例句：

• DNA is stored in the nucleus of a cell.脱氧核糖核酸储存于细胞的细胞核里。
• Gene mutations are alterations in the DNA code.基因突变是指DNA密码的改变。

15 variant   

adj.不同的，变异的；n.变体，异体

参考例句：

• We give professional suggestions according to variant tanning stages for each customer.我们针对每位顾客不同的日晒阶段，提供强度适合的晒黑建议。
• In a variant of this approach,the tests are data- driven.这个方法的一个变种，是数据驱动的测试。

16 variants   

n.变体( variant的名词复数 )；变种；变型；（词等的）变体

参考例句：

• Those variants will be preserved in the'struggle for existence". 这些变异将在“生存竞争”中被保留下来。 来自辞典例句
• Like organisms, viruses have variants, generally called strains. 与其他生物一样，病毒也有变种，一般称之为株系。 来自辞典例句

17 affected   

adj.不自然的，假装的

参考例句：

• She showed an affected interest in our subject.她假装对我们的课题感到兴趣。
• His manners are affected.他的态度不自然。

18 devastating   

adj.毁灭性的，令人震惊的，强有力的

参考例句：

• It is the most devastating storm in 20 years.这是20年来破坏性最大的风暴。
• Affairs do have a devastating effect on marriages.婚外情确实会对婚姻造成毁灭性的影响。

19 syndrome   

n.综合病症；并存特性

参考例句：

• The Institute says that an unidentified virus is to blame for the syndrome. 该研究所表示,引起这种综合症的是一种尚未确认的病毒。
• Results indicated that 11 fetuses had Down syndrome. 结果表明有11个胎儿患有唐氏综合征。

20 genetic   

adj.遗传的，遗传学的

参考例句：

• It's very difficult to treat genetic diseases.遗传性疾病治疗起来很困难。
• Each daughter cell can receive a full complement of the genetic information.每个子细胞可以收到遗传信息的一个完全补偿物。

21 mutation   

n.变化，变异，转变

参考例句：

• People who have this mutation need less sleep than others.有这种突变的人需要的睡眠比其他人少。
• So far the discussion has centered entirely around mutation in the strict sense.到目前为止，严格来讲，讨论完全集中于围绕突变问题上。

22 cognitively   

参考例句：

• Cognitively,man,the subject of cognition,must classify and categorize the objects. 从认知学角度来看 ，作为认知主体的人对于认知对象必须进行分类和范畴化。 来自互联网
• Cognitively, reference can be studied along with information processing of human mind. 从认知的角度看，要研究人类思维的信息处理过程。 来自互联网

23 syndromes   

n.综合征( syndrome的名词复数 )；（某种条件下有共同特征的）一系列表现（事件、举动等）

参考例句：

• Other agents can cause similar syndromes. 其它病原也可引起相似的综合症。 来自辞典例句
• They have pointed out the similarities of the sprue syndromes in man and TGE. 他们强调了人的鹅口疮综合症和TGE的共同点。 来自辞典例句

24 diagnosis   

n.诊断，诊断结果，调查分析，判断

参考例句：

• His symptoms gave no obvious pointer to a possible diagnosis.他的症状无法作出明确的诊断。
• The engineer made a complete diagnosis of the bridge's collapse.工程师对桥的倒塌做一次彻底的调查分析。