Science didn't understand my kids' rare disease until I decided to study it | Sharon Terry

翻译人员: shup2399 shup2399 校对人员: Jack Zhang

The best Christmas my children ever had

我的孩子们过的最好的圣诞节

was also the worst Christmas my husband and I ever had.

却也是我丈夫和我过的最差的 圣诞节。

Elizabeth, age seven,

7岁的伊丽莎白和

and her brother, Ian, age five,

她5岁的弟弟伊恩

couldn't imagine why they were getting everything they wanted for Christmas.

想不出为什么他们那年圣诞节得到了 所有想要的圣诞礼物。

The reason Santa was so generous

那一年圣诞老人如此慷慨是因为

was because of something my husband Pat and I knew

我丈夫帕特和我知道了一些事情，

and the kids couldn't comprehend.

孩子们当时并不能理解的事情。

Something that we had just learned, and it terrified us.

这事情我们刚弄清楚就吓坏了我们。

This was 1994

这发生在1994年，

and the story actually starts a few years earlier.

事实上故事要从更早的几年说起。

For a couple of years I had noticed a rash on the sides of Elizabeth's neck

那几年， 我注意到伊丽莎白脖子边上的皮疹，

that looked like prickly heat.

看起来像是痱子。

For those same years, my father and brother both died of cancer,

在相同的几年间， 我的父亲和兄弟都死于癌症。

and I was probably overanxious about illness.

因此我对疾病过度焦虑。

The doctors assured us there was nothing wrong

医生向我们保证这不会有问题，

and I shouldn't worry,

并且告诉我不必担心，

but I wasn't so sure.

但我还是不太相信。

And so without a referral, and paying out-of-pocket,

所以在没有转诊且缴了费的情况下，

I took Elizabeth to a dermatologist.

我带着伊丽莎白来看皮肤科的专家。

She was probably just allergic to something,

她可能只是对一些东西过敏

but why did it appear just on the sides of her neck, this rash?

但是为什么皮疹只出现 在她脖子两侧？

So it's two days before Christmas,

1994年，

1994,

在圣诞节的前两天，

and the dermatologist takes a quick look at her neck and says,

皮肤科专家看了一眼她的脖子便说道：

"She has pseudoxanthoma elasticum."

“她患有弹性纤维性假黄瘤。”

And then he shuts off the lights and looks in her eyes.

接着医生关了灯并看她的眼睛。

It turns out, by chance,

原来，碰巧地，

this dermatologist also trained in ophthalmology.

这位皮肤科专家曾学过眼科学，

Our lucky day.

这真是我们的幸运日。

I am sick to my stomach.

我的胃里开始感到不适，

"Oma?"

“瘤？”

Oma's like melanoma, lymphoma --

就像黑色素瘤和淋巴瘤——

那样的癌症吗？

cancer.

"Why are you looking in her eyes for a skin rash?"

“为什么她皮肤有皮疹， 你却要看着她的眼睛？”

I scream and make no sound.

我心中无声地呐喊道。

So there it is.

就这样，

Elizabeth has pseudoxanthoma elasticum,

伊丽莎白患的是弹性纤维性假黄瘤，

PXE for short.

简称PXE。

Questions mix with fear

我心中充满疑惑和恐惧，

and erupt like bile in my throat.

喉咙像是有胆汁要迸出来。

Why are you looking in her eyes?

为什么你一直看着她的眼睛？

What do you know about this? How do you know for sure?

你对此了解吗？ 你怎么那么确定？

What is the prognosis?

预后又是什么？

My training in pastoral counseling did not prepare me for this.

我在田园辅导时可没有学到这个。

Dr. Bercovitch tells us everything he knows about PXE.

伯科维奇医生告诉我们 他对PXE所知道的一切。

It's a rare genetic disorder,

这是一种罕见的遗传疾病，

it's systemic,

它具有系统性，

it's a slowly progressing, premature aging disease.

它是种病程缓慢的早衰症，

It causes loose wrinkly skin in the flexor areas.

它会使屈肌区的皮肤松弛，

It causes legal blindness,

还会导致失明，

like macular degeneration,

就像黄斑变性一样，

and a host of cardiovascular problems.

并能引起很多心血管问题。

Little is known about this disease,

我们对该种疾病知之甚少，

and some people die in their 30s,

当时有些报道称

say some of the reports at the time.

有些患者在他们30岁左右时就死了。

He then just glances at our son and says,

然后他瞥了我们的儿子一眼说道：

"He has it, too."

“他也有这种疾病。”

We want to flee back to the land of normal.

我们多么想回到普通的生活。

Two days after Christmas,

圣诞节后两天，

researchers come from a university in Boston,

一些来自波士顿大学的研究人员

and they take blood from us and our children

for a research project focused on finding the gene.

他们从我们和孩子身上取走了血样。

A few days later,

几天后，

researchers come from a medical center in New York

来自纽约医疗中心的研究人员

也来说想要血样。

and say they want blood, too.

"These are children.

“这些是孩子啊，

They're five and seven years old.

他们都只有5,7岁大而已，

Don't make them face the needle twice.

请不要让他们面对针管两次，

Go and get your share from the other researchers."

请你们离开， 让其他研究者与你们分享。”

They laugh, incredulous.

他们笑了并反问：

"Share?"

“分享？”

It is then that we learn that there is little sharing in biomedical research.

那之后我们才知道， 在生物医学研究领域很少有分享的行为。

This moment, more than any other,

这一刻比任何时候都能

lit a fire beneath my husband Pat and me.

燃起我丈夫帕特和我心中的怒火。

Pat and I went to a medical school library

帕特和我去了一间医学图书馆，

and we copied every article we could find on PXE.

然后我们复印了 所有我们能找的关于PXE的资料。

We didn't understand a thing.

我们完全看不懂。

We bought medical dictionaries and scientific textbooks

我们就买医学词典和科学教材，

and read everything we could get our hands on.

然后阅读我们手中的一切。

And though we still didn't understand,

我们仍然不能弄明白，

we could see patterns,

我们可以看图，

and it became quickly apparent within a month

一个月后，我们就发现了

that there was no systematic effort to understand PXE.

PXE这个疾病缺乏系统性的研究。

In addition,

另外，

the lack of sharing that we experienced was pervasive.

我们常常遇到缺少分享的情况。

Researchers competed with each other

研究人员互相竞争，

because the ecosystem was designed to reward competition

因为大环境是鼓励他们竞争

rather than to alleviate suffering.

而非缓解痛苦的。

We realized that we would have to do work on this condition ourselves

我们认识到 我们得在这种环境下寻找解决方法，

to find solutions for ourselves and others like us.

不仅为了我们， 也为了像我们一样的其他人。

But we faced two major barriers.

但是我们遇到了两大难题。

The first one:

第一个是：

Pat and I have no science background.

帕特和我没有科学背景

At the time, he's the manager of a construction company,

当时，他是一家建筑公司的经理

and I'm a former college chaplain stay-at-home mom --

而我以前是一位大学牧师兼家庭主妇——

hardly the backgrounds to take the research world by storm.

这让我们很难快速进行科学研究。

The second barrier:

这第二个难题就是

researchers don't share.

研究人员不愿意分享。

People told us you can't herd cats.

人们告诉我们， 你不能让猫听你的话，

Well, yes you can if you move their food.

好吧，但其实你可以， 只要你拿走它们的食物。

(Laughter)

（笑声）

(Applause)

（掌声）

DNA and clinical data is the food.

DNA和临床资料就是他们的食物，

So we would collect blood and medical histories,

所以我们收集了血样和医学史

and require that all scientists using these resources

并且要求所有用这些资源的科学家

would share results with each other and with the people who donated.

都能互相分享他们的成果 并分享给捐赠人。

Well before the internet was in common use,

在英特网还没广泛使用的时候，

Pat and I established PXE International,

帕特和我建立了“PXE国际组织”，

a nonprofit dedicated to initiating research and conducting it on PXE

它是一个致力于开展和引导PXE研究的 非营利组织，

and also supporting individuals with the disease.

它还支援患有该疾病的人。

Using traditional media,

通过传统媒体，

we garnered around 100-150 people around the world

我们收集了全球大约100到 150个人的资料。

who we asked,

他们会被我们问道：

would you give us your blood, your tissue, your medical histories,

你愿意给我们你的血样、组织样本、 用药记录

和病历吗？

your medical records?

And we brought all of that together.

然后我们就把这些收集到一起。

We quickly learned that this shared resource was not going to be enough.

我们很快认识到这种资源的分享 是远远不够的。

And so we decided we had to do hardcore bench science --

因此我们决定去实验桌做研究——

核心研究。

hardcore research.

So we borrowed bench space at a lab at Harvard.

所以我们在哈佛实验室里 借了一个工作台的空间。

A wonderful neighbor came a couple times a week

有一个不错的邻居一周会来几次，

and sat with the kids from 8pm to 2am

这位邻居会陪孩子们 从晚上8点坐到凌晨2点。

while Pat and I extracted DNA,

让帕特和我可以安心提取DNA，

使用并评估凝胶体

ran and scored gels

和寻找基因。

and searched for the gene.

Generous postdocs tutored us as we went along.

一位热心的博士后指导我们。

Within a few years, we found the gene.

不过几年，我们就找到了基因。

We patented it so that it would be freely available.

我们获得了专利 然后它可以被免费使用。

We created a diagnostic test.

我们创建了一个诊断测试，

We put together a research consortium.

我们组织了一个研究联盟。

We held research meetings and opened a center of excellence.

我们举办了研究会议 建立了技术中心。

We found more than 4,000 people around the world who had PXE,

我们发现在全球有超过4000人 患有PXE，

and held patient meetings

我们还举行了一场病人交流会

and did clinical trials and studies.

并做了临床试验和研究。

Through all this,

经历所有这些事情的过程中，

we lived with fear.

我们一直很害怕。

Fear of the disease breathing down our neck

当钟声滴答作响的时候

我们很害怕这疾病会 出现在我们的脖子上。

while the clock ticked.

Fear of researchers,

害怕那些研究者们，

so well credentialed and positioned in a world made for them.

他们在这个世界上有着如此高的信誉和地位。

Fear that we were making the wrong choices.

害怕我们正在做着错误的选择。

Fear that the naysayers were right

害怕那些反对者是对的，

and the cats would simply find a new food.

害怕猫还是能轻松找到食物。

But greater than all these fears was our drive to make a difference

但是比这些害怕更重要的是 我们为了孩子们

for our kids and for all those we had met along the way.

和那些一路上遇到的人 所做出的努力。

And very quickly,

很快地，

we also realized what we were doing for one disease,

我也意识到我们只是在研究一种疾病，

we should do for all diseases.

我们应该研究所有的疾病。

We joined with, and I eventually led,

我们加入了并最终领导了

Genetic Alliance --

“基因联盟”——

a network of health advocacy,

一个拥护健康

patient advocacy,

research and health organizations.

拥护患者，

的卫生研究组织。

We built scalable and extensible resources,

我们构建了可规模化和可拓展的资源，

like biobanks and registries and directories of support

比如包括所有疾病的

生物信息库，注册信息和协助电话。

for all diseases.

And as I learned about all those diseases and all those disease communities,

我对所有这些疾病了解的越多， 对这些患病群体了解越多，

I realized that there were two secrets in health care

我就越来越意识到 在卫生保健领域有两个秘密，

that were impacting me greatly.

它们对我影响很大。

The first:

第一个就是

there are no ready answers for people like my kids

无论是对那些像我孩子一样的人 还是与我一起努力的人，

or all the people I was working with,

whether common or rare conditions.

都没有现成的答案。

And the second secret:

第二个秘密就是：

the answers lie in all of us together,

答案在我们每个人身上，

donating our data,

我们一起捐赠我们的数据，

our biological samples

生物样本，

and ultimately ourselves.

最后奉献我们自己。

There is a small groundswell of individuals

目前有人在带领这股风潮，

who are working to change this.

他们正致力于改变科学研究的方式。

Citizen scientists, activists, hacks

那些公民科学家、活动家和骇客们

who are using crowdsourcing, do-it-yourself science

正采用众包的方式， 做着自己的科学

are changing the game.

正在改变这个游戏。

Even President Obama and Vice President Biden

连总统奥巴马亦或是 副总统拜登

are evangelists for the idea

他们都传播这个理念：

that people should be partners in research.

“公民应该参与科学研究。”

This is a founding principle of our organization.

这也是我们组织创立的原则。

Sure, it's really hard

当然，研究并发展医学干预和治疗

to discover and develop interventions and therapies.

是很艰难的。

The science is hard,

科学本身就难，

the regulatory regime is difficult.

法规也很严格。

There are a lot of stakeholders with lots of interests

很多手中握有重大利益的投资人

and misaligned incentives like publishing, promotion and tenure.

以不当的激励方式比如发布、晋升、 提供终身职位的方式吸引着科学家。

I don't fault scientists for following this path,

我不怪科学家们跟他们走，

but I challenge them and us to do this differently.

但我希望他们和我们一起 做些不一样的事情，

To recognize that people are at the center.

认识到“人”才是中心。

Genetic Alliance has experimented

要改变这些顽固的体系要做些什么，

in what it will take to transform these crusty systems.

“基因联盟”在这方面已经做过尝试。

Our goal is to work without boundaries.

我们的目标是“工作无障碍“。

That sounds abstract, but for us it's quite practical.

这听起来很抽象， 但是对于我们来说它是相当实际的。

When we're frustrated that entities won't share data --

当我们感到沮丧的时候， （相关团体不愿意分享资料——

data that comes from people who gave their energy, their time, their blood

那些来自人们的精力、时间、血样

甚至是他们眼泪的资料）

and even their tears --

we need to stop and ask,

我们需要停住并问：

"How is it true that we could share, but we aren't?"

“我们可以分享但我们却没这么做， 这是真的吗？”

We're part of this system, too.

我们都是这个系统的一份子啊。

How do we make it so that people can share ideas freely?

我们要怎么做才能让人们 自由分享这些想法呢？

So that people can take risks and move closer to one another?

怎样才能让那些冒险的人们 团结在一起呢？

This leads to a dissolving of us versus them,

这让我们不再和他们对抗，

not only for organizations but also for individuals.

这不仅仅是为了组织也为了个人。

If I'm going to ask organizations or individuals

如果我要组织或者个人

to strive for these standards,

去为这些原则奋斗，

then I too need to explore my own being and my practices.

那或许我也要探索我自己 并付出行动。

If I'm going to ask clinicians and researchers and administrators

如果我要求临床医生，研究人员和 管理人员

去冒险，

to take risks,

then I, Sharon, need to take risks as well.

那或许，我莎朗，也需要冒险。

I need to face my personal fears.

我需要面对自己的恐惧。

My fear of not having enough impact.

面对我还没有足够影响力的恐惧，

My fear of not leading well.

面对我不能很好领导大家的恐惧，

My fear of not being enough.

面对我自己还不够格的恐惧，

Just before they entered their teens, our kids stopped us in our tracks

就在我们的孩子进入青少年之前， 他们用大人的口吻对我们

and said, "You have to stop worrying about making a difference,

说道：“你们必须停止担心 你们要做出的改变，

making an impact,

产生的影响，

and instead, like us, learn to live with disease

反之，要像我们， 学会和疾病共存，

rather than fight it."

而不是去抵抗它。”

I have to ask,

我不得不问，

where does all my fear come from?

我的恐惧从何而来？

The kids' declaration shines a spotlight on that fear.

孩子们的话像是灵光乍现， 让我明白那些恐惧

It arises from a bedrock of love.

是源于坚若磐石的爱，

I love Elizabeth and Ian.

我爱伊丽莎白和伊恩

I love people with PXE.

我爱患有PXE的人们

I love people with any disease.

我爱所有身患疾病的人们。

I love people.

我爱所有人。

Some of my colleagues have discovered that it is not death we fear,

我的一些同事发现 我们害怕的不是死亡，

it is the enormity of our loving.

而是我们无尽的爱。

This expansive love opens me to great pain

博爱给我带来的巨大痛苦

as I face loss.

犹如我面对失去时 感受的痛苦一样。

As I discover my fear,

当我发现我的恐惧时，

I discover that I

我发现

and all those around me

我和我周围人

have boundless capacity for love.

都充满了无尽的爱。

And I also discover

我还发现

as I move into this fear,

当我进入这恐惧，

that I can learn many new things

我可以学到很多新东西

and find paths

并找到

解决实际问题的方法，

to things like practical solutions

还能找到治愈和恢复健康的关键。

as well as the core of healing and health.

I don't fear fear the way I used to.

我不再像以前一样恐惧。

In fact lately, with enormous support from all my fellow journeyers,

其实最近，在我同行的大力支持下

I notice that it's not a warning the way it used to be.

我注意到恐惧不再是像以前那样 的一种警告方式，

I notice that instead,

it's an invitation to go forward

反而是一种

前进的邀请。

because in it lies love and the path to greater love.

因为这基于爱并通往更伟大的爱。

If I turn with gentle curiosity toward that fear,

如果我只是以温柔的好奇心 面对这些恐惧，

I find enormous wealth within myself and others

我发现我自己和身边的人 都内心充满感恩，

and the ability to step into challenges that I never thought I could.

也充满了面对挑战的能力， 这是我从未想到的。

My kids are ahead of me on that path still.

我的孩子在这条路上仍然走在我前面。

At ages 29 and 27,

他们分别29、27岁了

they declare they are happy and healthy

他们表示很开心很健康。

despite having manifestations of PXE in their skin and eyes and arteries.

尽管他们的皮肤和眼睛还有血管上 都还表现出患PXE的现象。

And so I invite you, us, we,

所以我诚邀大家，

to turn toward our fear;

一起来面对恐惧；

to embrace the things that scare us

去拥抱那些使我们恐惧的东西

and find the love at the center.

在其中找到爱。

We'll not only find ourselves there

我们不仅会发现自己在爱里，

but we'll also be able to step into the shoes of those we fear

我们还会代替我们害怕的人

以及害怕我们的人。

and those who fear us.

If we breathe into that fear

如果我们在恐惧中呼吸，

and are vulnerable with the systems and people who challenge us,

战胜挑战我们的系统和人们，

our power as changemakers grows exponentially.

我们作为改变者的力量会 呈指数级别的增长。

And when we realize

接着我们意识到

that working on our inner life is working on our outer life

改变我们的内在世界 就是改变我们的外在世界，

and outer work is inner work,

我们的外在世界呈现的 就是我们的内在世界，

we get down to what is real

然后我们就能寻求真理，

并搞定事情。

and shit gets done.

(Laughter)

（大笑）

There is no limit to what we can accomplish together.

让我们一起同心协力， 创造无限可能。

Thank you.

谢谢！

(Applause)

（掌声）