美国国家公共电台 NPR A Boy's Mysterious Illness Leads His Family On A Diagnostic Odyssey

 

STEVE INSKEEP, HOST:

Thousands of children in the United States are born every year with mysterious medical conditions. Many of their families search for answers in what can be a diagnostic odyssey¹. NPR science correspondent Richard Harris has the story of one family whose odyssey took a dozen years.

RICHARD HARRIS, BYLINE²: When Alex Yiu was born 14 years ago, he seemed like a typical healthy kid. But starting at the age of 2, his mother, Caroline Cheung-Yiu, started noticing things that were amiss - first, little things, then much bigger problems. As part of her quest to understand Alex's illness, she documented those in a brief video, which she plays for me in San Diego, which is not far from their home.

So how old is he here?

CAROLINE CHEUNG-YIU: He's 5. So this is kindergarten. It was kindergarten open house.

HARRIS: Alex is happily swinging on a play structure and smiling as he slips down the slide. But over the next 12 months, Alex became increasingly clumsy and kept falling over.

CHEUNG-YIU: And then by first grade, at 6, he stopped walking.

HARRIS: His trunk got progressively weaker, so he had to be braced³ in his wheelchair.

CHEUNG-YIU: And then here, he's losing arm control; he can't control his arms.

(SOUNDBITE OF VIDEO)

ALEX YIU: (Unintelligible).

CHEUNG-YIU: And his speech is - his speech is going.

(SOUNDBITE OF VIDEO)

ALEX: (Unintelligible).

HARRIS: Doctors ran test after test and couldn't figure it out. His parents found three different sets of researchers willing to sequence his DNA⁴, but no mutations stood out to explain his failing health.

CHEUNG-YIU: And then in 2017, his lung collapsed⁶, and so he needs now a BiPAP ventilator to breathe, you know.

HARRIS: Was it hard for you to watch that video?

CHEUNG-YIU: Yes and no. You know, he used to be able to talk and walk and play, and now, he can't. But we try to focus on the now and what we can do to make his life the best that it can be.

HARRIS: The video also helped Caroline Cheung-Yiu solve Alex's mystery. When she played it for doctors and researchers, they frequently became engaged in this heart-wrenching medical mystery. And one of those many connections finally paid off.

CHEUNG-YIU: And it was actually by chance that he got diagnosed.

HARRIS: Alex's DNA had been sequenced and analyzed⁸ back in 2012 by a nonprofit institute in Phoenix⁹ called TGen. Scientists at the time couldn't pin down a cause, but they kept his DNA data on file.

Then, in September of last year, Keri Ramsey at TGen says her boss asked her to reanalyze one patient's DNA in preparation for another medical appointment. But the request had a typo.

KERI RAMSEY: Instead of, you know, asking for the patient that he was actually seeing in his clinic, he put down Alex's family's number.

HARRIS: There are thousands of cold cases like Alex's, and the databases cataloging genetic¹¹ diseases are constantly being updated. So scientists rerun the analysis when they can, and every so often, a cold case gets solved.

Ideally, this should be an automated¹² process, but the technology is not quite there. This time, when Ramsey ran the analysis again, one of Alex's DNA variants¹³ matched up with a disease in the database.

RAMSEY: I looked over at the disorder¹⁴ that had - was associated with this gene¹⁰, and it fit Alex's set of symptoms. And I was completely shocked. Like, why did we miss this? You know, what was going on here?

HARRIS: It turns out that a freshly published research paper had been catalogued in the genetics database, and it had drawn¹⁵ a link between Alex's symptoms and a particular mutation⁵.

RAMSEY: I immediately went into our medical director and said, I think I know what's going on with Alex. And he was like, why did you go back and analyze⁷ Alex's data? And I said, well, you asked me to (laughter).

HARRIS: Word spread quickly back to Caroline Cheung-Yiu and her husband.

CHEUNG-YIU: And we got a call from our neurologist, and they said they found it. It's - the paper was just published in July of 2018, last year.

HARRIS: And so now that you know what the diagnosis¹⁶ is, how does that change your life and Alex's life?

CHEUNG-YIU: Well, the day in and day out care and what's going on with him is the same. However, now, I can say, well, this is the gene that's causing it. Then we can target that and look into that.

HARRIS: What do you expect Alex's life to be like going forward?

CHEUNG-YIU: At this point, he is so sick that I don't think it's reversible. But if there is something that can relieve his symptoms to make his quality life a little bit better, that would be great.

HARRIS: It's more than just a personal relief to end this diagnostic odyssey. Cheung-Yiu built a support group to help other patients who are going through what she is and who now have a better idea about what to expect. Richard Harris, NPR News.

1 odyssey   

n.长途冒险旅行；一连串的冒险

参考例句：

• The march to Travnik was the final stretch of a 16-hour odyssey.去特拉夫尼克的这段路是长达16小时艰险旅行的最后一程。
• His odyssey of passion, friendship,love,and revenge was now finished.他的热情、友谊、爱情和复仇的漫长历程，到此结束了。

2 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。

3 braced   

adj.拉牢的v.支住( brace的过去式和过去分词 )；撑牢；使自己站稳；振作起来

参考例句：

• They braced up the old house with balks of timber. 他们用梁木加固旧房子。 来自《简明英汉词典》
• The house has a wooden frame which is braced with brick. 这幢房子是木结构的砖瓦房。 来自《简明英汉词典》

4 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。

5 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。

6 collapsed   

adj.倒塌的

参考例句：

• Jack collapsed in agony on the floor. 杰克十分痛苦地瘫倒在地板上。
• The roof collapsed under the weight of snow. 房顶在雪的重压下突然坍塌下来。

7 analyze   

vt.分析，解析 (=analyse)

参考例句：

• We should analyze the cause and effect of this event.我们应该分析这场事变的因果。
• The teacher tried to analyze the cause of our failure.老师设法分析我们失败的原因。

8 analyzed   

v.分析( analyze的过去式和过去分词 )；分解；解释；对…进行心理分析

参考例句：

• The doctors analyzed the blood sample for anemia. 医生们分析了贫血的血样。 来自《简明英汉词典》
• The young man did not analyze the process of his captivation and enrapturement, for love to him was a mystery and could not be analyzed. 这年轻人没有分析自己蛊惑著迷的过程，因为对他来说，爱是个不可分析的迷。 来自《简明英汉词典》

9 phoenix   

n.凤凰，长生(不死)鸟；引申为重生

参考例句：

• The airline rose like a phoenix from the ashes.这家航空公司又起死回生了。
• The phoenix worship of China is fetish worship not totem adoration.中国凤崇拜是灵物崇拜而非图腾崇拜。

10 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。

11 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。

12 automated   

a.自动化的

参考例句：

• The entire manufacturing process has been automated. 整个生产过程已自动化。
• Automated Highway System (AHS) is recently regarded as one subsystem of Intelligent Transport System (ITS). 近年来自动公路系统(Automated Highway System,AHS)，作为智能运输系统的子系统之一越来越受到重视。

13 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

14 disorder   

n.紊乱，混乱；骚动，骚乱；疾病，失调

参考例句：

• When returning back,he discovered the room to be in disorder.回家后，他发现屋子里乱七八糟。
• It contained a vast number of letters in great disorder.里面七零八落地装着许多信件。

15 drawn   

v.拖，拉，拔出；adj.憔悴的，紧张的

参考例句：

• All the characters in the story are drawn from life.故事中的所有人物都取材于生活。
• Her gaze was drawn irresistibly to the scene outside.她的目光禁不住被外面的风景所吸引。

16 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。