美国国家公共电台 NPR--A family looks for answers into why so many of them develop Alzheimer's disease

A family looks for answers into why so many of them develop Alzheimer's disease

Transcript¹

Three sisters set out to learn why many of the people in their family develop Alzheimer's disease in middle age — and what they can do about it.

A MARTINEZ, HOST:

In some families, Alzheimer's seems inevitable².

KAREN DOUTHITT: Your grandmother has it. Your mom has it. Your uncle has it. Your aunts have it. Your cousin has it. I always assumed that I would have it.

MARTINEZ: NPR's Jon Hamilton reports on three sisters who wanted to know why Alzheimer's runs in their family and what they could do to protect future generations.

JON HAMILTON, BYLINE⁴: The first time I spoke⁵ with Karen Douthitt was in the summer of 2015 in Washington, D.C. She was attending an annual conference for families in which Alzheimer's frequently appears in middle age. The cause is a rare genetic⁶ mutation⁷ that can be passed from generation to generation. When we met that day, she and her two older sisters had not yet been tested for this mutation. But June Ward⁸, the middle sister, says they all knew they might have it.

JUNE WARD: Our own mother started having symptoms at age 62, which was much younger than her mother. So it has been a part of our life. I like to say it was always in our peripheral⁹ vision.

HAMILTON: The disease moved front and center when the sisters learned that the mutation had been found in a close relative. Karen heard the news during a round of golf. She knew immediately that it greatly increased the risk that she and her siblings¹⁰ were carrying the mutation.

DOUTHITT: My chance of being positive is 50/50, so we now have a coin flip¹¹ of whether they will develop Alzheimer's by the time we're 62. It's kind of a heavy load on the golf course.

HAMILTON: June had a different reaction.

WARD: It was shocking news, but yet there was this element of, oh, so now we finally know what's been going on.

HAMILTON: Karen and June talked it over with their eldest¹² sister, Susie Gilliam. The sisters were close. They'd grown up together in Swannanoa, a town in the Blue Ridge¹³ Mountains of North Carolina. So June says they made a decision together.

WARD: We're doing what we can do, which is to participate in the drug trials and try to take what action we can toward a better future.

HAMILTON: The sisters began raising money for the Alzheimer's Association, and they volunteered for Alzheimer's drug studies led by researchers at Washington University in St. Louis. All that happened seven years ago. This summer, I sat down with Karen and June again. They were attending the annual conference for families, this time in San Diego. Susie, the eldest sister, was there too, ready to join in a family discussion about some forms they had to fill out.

SUSIE GILLIAM: You still checked the wrong one.

HAMILTON: By this time, all three sisters had learned whether they carried the gene³ mutation. Karen, the youngest, had found out just after the 2015 conference.

DOUTHITT: I decided¹⁴ to do gene testing relatively¹⁵ early after that meeting, and I'm negative.

HAMILTON: The middle sister, June, went next.

WARD: In March of 2016, I decided I was ready to do genetic testing just 'cause I like to know things. And I turned out to be genetically¹⁶ positive for Alzheimer's disease, which means that if I live long enough, I will get it, unless the medicine works.

HAMILTON: For years, the eldest sister, Susie, had chosen not to find out whether she carried the gene.

GILLIAM: I asked my husband and my two children, and everybody said they'd just as soon not know.

HAMILTON: Eventually, though, their views changed. And in March, Susie discovered that she is also positive.

GILLIAM: The next morning I was wallowing in self-pity and what I'm going to miss. I'm going to miss birthdays, and my grandchildren won't know me, you know, as a healthy person. But then on the front porch in the mountains of western North Carolina, I'm rocking, and there's this single cloud in this Carolina blue sky, as we like to say. And I was praying for him to take my worries away. And I'm sitting there rocking, and the single cloud thins and thins and thins, and then, poof, it's gone, and with it, my worries.

HAMILTON: The situation still worries little sister Karen, even though she's negative for the mutation. Late last year, she got some alarming news about her own health. She had breast cancer. But Karen says cancer doesn't leave you feeling helpless the way Alzheimer's does.

DOUTHITT: You go see a surgeon, you go see an oncologist, and then you have surgery, and then you have radiation or chemo. And, you know, there is a to-do list. And Susie had her diagnosis¹⁷ in March, and her to-do list is go see an attorney, make a will, do what you can. And it's just - I'm sick of there not being a to-do list with Alzheimer's.

HAMILTON: Karen knows that her sisters, now in their 60s, could develop symptoms at any time. She says that will be devastating¹⁸ for her family, which dotes on Susie and June.

DOUTHITT: We have a really large family, and they are the most beloved. We call them marshmallows 'cause they're so sweet. And to watch my nieces and nephews and Susie's children have to experience that loss, I'm not looking forward to it.

HAMILTON: June has found some measure of solace¹⁹ by participating in Alzheimer's research studies. She knows the experimental drugs she's taking are unlikely to help her, but she hopes they'll lead to treatments that can make a difference to younger members of her family.

WARD: I love them all very, very much. And so if anything can have a positive effect for their lives and their future, I'm all in it.

HAMILTON: June also has become a regular at the annual conference for families with early Alzheimer's. She says it's a place to hear about scientific advances and to feel a sense of ease.

WARD: There's a kind of sorrow about Alzheimer's disease that, as strange as it seems, there's a comfort in being in the presence of people who understand it.

HAMILTON: June says attending the conference also reminds her that some other families carry a more extreme version of the gene mutation.

WARD: Sometimes I feel guilty because I'm a 61-year-old woman with the gene who can still have a conversation and not make too many faux pas, and there are people in their 30s here that are struggling already.

HAMILTON: The three sisters are still hoping for an experimental drug that can slow down Alzheimer's. But they are also planning for a future without that drug. Karen and her husband have moved back to her childhood home in the Blue Ridge Mountains. They live in the same small house where she and her siblings were raised. Karen says it's part of a family compound they call the holler.

DOUTHITT: I say it's like the Kennedy compound, except redneck. Some of the houses have wheels on them. But anyway, my dream is to have both of my sisters there in that little house.

HAMILTON: Susie likes that idea. So does June.

WARD: The good thing is, we would be surrounded by family and people that have known us since we were children. And so if we walked away, somebody would find us, help us find our way back home.

HAMILTON: Jon Hamilton, NPR News.

1 transcript   

n.抄本，誊本，副本，肄业证书

参考例句：

• A transcript of the tapes was presented as evidence in court.一份录音带的文字本作为证据被呈交法庭。
• They wouldn't let me have a transcript of the interview.他们拒绝给我一份采访的文字整理稿。

2 inevitable   

adj.不可避免的，必然发生的

参考例句：

• Mary was wearing her inevitable large hat.玛丽戴着她总是戴的那顶大帽子。
• The defeat had inevitable consequences for British policy.战败对英国政策不可避免地产生了影响。

3 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。

4 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。

5 spoke   

n.（车轮的）辐条；轮辐；破坏某人的计划；阻挠某人的行动 v.讲，谈（speak的过去式）；说；演说；从某种观点来说

参考例句：

• They sourced the spoke nuts from our company.他们的轮辐螺帽是从我们公司获得的。
• The spokes of a wheel are the bars that connect the outer ring to the centre.辐条是轮子上连接外圈与中心的条棒。

6 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。

7 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。

8 ward   

n.守卫，监护，病房，行政区，由监护人或法院保护的人（尤指儿童）；vt.守护，躲开

参考例句：

• The hospital has a medical ward and a surgical ward.这家医院有内科病房和外科病房。
• During the evening picnic,I'll carry a torch to ward off the bugs.傍晚野餐时，我要点根火把，抵挡蚊虫。

9 peripheral   

adj.周边的，外围的

参考例句：

• We dealt with the peripheral aspects of a cost reduction program.我们谈到了降低成本计划的一些外围问题。
• The hotel provides the clerk the service and the peripheral traveling consultation.旅舍提供票务服务和周边旅游咨询。

10 siblings   

n.兄弟，姐妹( sibling的名词复数 )

参考例句：

• A triplet sleeps amongst its two siblings. 一个三胞胎睡在其两个同胞之间。 来自《简明英汉词典》
• She has no way of tracking the donor or her half-siblings down. 她没办法找到那个捐精者或她的兄弟姐妹。 来自时文部分

11 flip   

vt.快速翻动；轻抛；轻拍；n.轻抛；adj.轻浮的

参考例句：

• I had a quick flip through the book and it looked very interesting.我很快翻阅了一下那本书，看来似乎很有趣。
• Let's flip a coin to see who pays the bill.咱们来抛硬币决定谁付钱。

12 eldest   

adj.最年长的，最年老的

参考例句：

• The King's eldest son is the heir to the throne.国王的长子是王位的继承人。
• The castle and the land are entailed on the eldest son.城堡和土地限定由长子继承。

13 ridge   

n.山脊；鼻梁；分水岭

参考例句：

• We clambered up the hillside to the ridge above.我们沿着山坡费力地爬上了山脊。
• The infantry were advancing to attack the ridge.步兵部队正在向前挺进攻打山脊。

14 decided   

adj.决定了的，坚决的；明显的，明确的

参考例句：

• This gave them a decided advantage over their opponents.这使他们比对手具有明显的优势。
• There is a decided difference between British and Chinese way of greeting.英国人和中国人打招呼的方式有很明显的区别。

15 relatively   

adv.比较...地，相对地

参考例句：

• The rabbit is a relatively recent introduction in Australia.兔子是相对较新引入澳大利亚的物种。
• The operation was relatively painless.手术相对来说不痛。

16 genetically   

adv.遗传上

参考例句：

• All the bees in the colony are genetically related. 同一群体的蜜蜂都有亲缘关系。
• Genetically modified foods have already arrived on American dinner tables. 经基因改造加工过的食物已端上了美国人的餐桌。 来自英汉非文学 - 生命科学 - 基因与食物

17 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。

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 solace   

n.安慰；v.使快乐；vt.安慰(物)，缓和

参考例句：

• They sought solace in religion from the harshness of their everyday lives.他们日常生活很艰难，就在宗教中寻求安慰。
• His acting career took a nosedive and he turned to drink for solace.演艺事业突然一落千丈，他便借酒浇愁。