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

譯者: 易帆 余 審譯者: NAN-KUN WU

The best Christmas my children ever had

我家小孩這輩子最開心的聖誕節，

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

卻是我和我先生 這輩子最難過的聖誕節。

Elizabeth, age seven,

七歲的伊莉莎白，

and her brother, Ian, age five,

還有她五歲的弟弟，伊恩，

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

他們簡直不敢置信，為什麼可以在 聖誕節得到他們想要的一切。

The reason Santa was so generous

聖誕老公公如此慷慨的原因，

was because of something my husband Pat and I knew

是因為我的先生派德 和我能明白的東西，

and the kids couldn't comprehend.

孩子們並不能理解。

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

這東西我們才弄清楚 就嚇壞了我們。

This was 1994

1994 年，

and the story actually starts a few years earlier.

事實上故事要從更早幾年說起。

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

那幾年，我注意到 伊莉莎白脖子邊上的皮疹，

that looked like prickly heat.

看起來像是痱子。

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

同樣在那幾年，我父親與哥哥 兩個都因為癌症過世，

and I was probably overanxious about illness.

我當時可能對疾病反應過度了。

The doctors assured us there was nothing wrong

醫生向我們保證絕對沒事，

and I shouldn't worry,

叫我不要擔心。

but I wasn't so sure.

但我還是不放心。

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

在沒有醫師轉診 並完全自費的情況下，

I took Elizabeth to a dermatologist.

我帶伊莉莎白去找一位皮膚科專家。

She was probably just allergic to something,

她可能只是對某樣東西過敏，

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

但皮疹為什麼只出現在 她的脖子邊上？

So it's two days before Christmas,

在聖誕節前二天，

1994,

1994 年，

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

皮膚科專家看了一下 她的脖子便說道：

"She has pseudoxanthoma elasticum."

「她患有彈性纖維性假黃瘤。」

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

然後他關起燈來，看著她的眼睛。

It turns out, by chance,

原來，很剛好，

this dermatologist also trained in ophthalmology.

這位皮膚科醫師也曾學過眼科學。

Our lucky day.

我們真幸運。

I am sick to my stomach.

我的胃開始不舒服。

"Oma?"

是「瘤」嗎？

Oma's like melanoma, lymphoma --

就像是黑色素瘤、

淋巴瘤那樣的癌症嗎？

cancer.

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

「為什麼皮膚疹要看眼睛？」

I scream and make no sound.

我心中無聲地吶喊著。

So there it is.

果然，

Elizabeth has pseudoxanthoma elasticum,

伊莉莎白得的是彈性纖維性假黃瘤，

PXE for short.

簡稱「PXE」。

Questions mix with fear

我心中充滿了恐懼與疑惑，

and erupt like bile in my throat.

喉嚨像是有膽汁要噴出來一樣。

Why are you looking in her eyes?

你為什麼要看她的眼睛？

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

你對此了解嗎？你怎麼那麼確定？

What is the prognosis?

預後是什麼？

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

我在教牧輔導的訓練 可沒有學到這個。

Dr. Bercovitch tells us everything he knows about PXE.

柏克維奇醫生告訴了我 他對 PXE 所知道的一切。

It's a rare genetic disorder,

這是一種罕見的遺傳性疾病，

it's systemic,

它會全身發病，

it's a slowly progressing, premature aging disease.

是種病程緩慢的早衰症。

It causes loose wrinkly skin in the flexor areas.

它會使屈肌區的皮膚鬆弛。

It causes legal blindness,

還會導致失明，

like macular degeneration,

像是黃斑病變，

and a host of cardiovascular problems.

甚至會造成心血管疾病。

Little is known about this disease,

人們對此疾病所知甚少，

and some people die in their 30s,

有些病人會在 30 多歲就死亡，

say some of the reports at the time.

有些報告是這麼說的。

He then just glances at our son and says,

然後醫生看了一下我兒子又說：

"He has it, too."

「他也有。」

We want to flee back to the land of normal.

我們想回到以前正常的日子。

Two days after Christmas,

聖誕節後第二天，

researchers come from a university in Boston,

來自波士頓一所大學的研究人員，

and they take blood from us and our children

為了尋找該基因的研究專案，

for a research project focused on finding the gene.

從我們和孩子身上取走了血樣。

A few days later,

幾天後，

researchers come from a medical center in New York

紐約一所醫學中心的 研究人員也來了，

and say they want blood, too.

說他們也想要血樣。

"These are children.

「他們只是小孩子啊！

They're five and seven years old.

一個五歲、一個七歲。

Don't make them face the needle twice.

請不要讓他們再一次面對針頭。

Go and get your share from the other researchers."

請你們離開去找 其他研究者與你們分享。」

They laugh, incredulous.

他們簡直不敢相信地笑著，

"Share?"

「分享？」

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

後來我們才知道，

原來生物醫學界領域， 彼此是很少分享的。

This moment, more than any other,

當下，就在那刻，

lit a fire beneath my husband Pat and me.

我先生派德和我就火大了。

Pat and I went to a medical school library

我們去了一家醫學院的圖書館，

and we copied every article we could find on PXE.

影印了每篇我們所找到的 有關 PXE 的文章。

We didn't understand a thing.

我們根本一點都不懂。

We bought medical dictionaries and scientific textbooks

我們買了醫藥字典和科學教科書，

and read everything we could get our hands on.

閱讀我們手邊所有的資料。

And though we still didn't understand,

雖然我們仍然不懂，

we could see patterns,

但我們可以看圖，

and it became quickly apparent within a month

一個月後我們很快就了解

that there was no systematic effort to understand PXE.

這個疾病缺乏系統性的研究。

In addition,

另外，

the lack of sharing that we experienced was pervasive.

不願分享的情形到處可見。

Researchers competed with each other

研究人員之間是相互競爭的，

because the ecosystem was designed to reward competition

因為大環境的設計鼓勵他們競爭，

rather than to alleviate suffering.

而非減緩痛苦。

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

我們認知到我們得在這樣的環境下 工作並尋找解決方法，

to find solutions for ourselves and others like us.

不僅為了我們， 更為了像我們一樣的其他人。

But we faced two major barriers.

但我們遇到了兩大難題。

The first one:

第一：

Pat and I have no science background.

派德和我都沒有科學的背景。

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

當時，他只是一家建築公司的經理，

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

而我以前是一位 大學牧師兼家庭主婦，

hardly the backgrounds to take the research world by storm.

根本沒有足夠的背景 來快速了解科學研究。

The second barrier:

第二個難題就是：

researchers don't share.

研究人員根本不願意分享。

People told us you can't herd cats.

大家都說，你無法讓 一群貓聽你的話。

Well, yes you can if you move their food.

其實，你可以的， 只要你移動牠們的食物。

(Laughter)

（笑聲）

(Applause)

（掌聲）

DNA and clinical data is the food.

DNA 及臨床資料就是他們的食物。

So we would collect blood and medical histories,

所以，我們收集了血樣及用藥歷史，

and require that all scientists using these resources

並要求所有使用這些資源的科學家，

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

要彼此分享研究成果， 還要分享給捐贈人。

Well before the internet was in common use,

在網路尚未被廣泛使用時，

Pat and I established PXE International,

派德和我建立了「PXE 國際組織」，

a nonprofit dedicated to initiating research and conducting it on PXE

它是一個致力於開展和引導 PXE 研究的非營利組織，

and also supporting individuals with the disease.

並為患有該疾病的人提供支持。

Using traditional media,

透過傳統媒介，

we garnered around 100-150 people around the world

我們收集了全球大約 100 到 150 個人的資料，

who we asked,

我們會問他們，

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

你願意給我們你的 血樣、組織樣本、用藥紀錄

your medical records?

和病歷嗎？

And we brought all of that together.

然後我們把這些資料整理起來。

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

我們很快了解到 這樣的資源分享是遠遠不夠的。

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

因此我們決定去實驗室做——

hardcore research.

紮實的基礎研究。

So we borrowed bench space at a lab at Harvard.

所以我們在哈佛大學 借了一個工作台，

A wonderful neighbor came a couple times a week

有一個很好心的鄰居一周會來幾次，

and sat with the kids from 8pm to 2am

從晚上八點到凌晨兩點陪伴孩子們，

while Pat and I extracted DNA,

讓派德和我可以安心地抽取 DNA、

ran and scored gels

跑凝膠、

and searched for the gene.

尋找基因。

Generous postdocs tutored us as we went along.

另外有一些慷慨的 博士後人員在指導我們。

Within a few years, we found the gene.

不過幾年，我們就找到了基因。

We patented it so that it would be freely available.

我們取得了專利以便免費使用。

We created a diagnostic test.

我們建立了一個診斷的測試方法，

We put together a research consortium.

我們組織了一個研究聯盟，

We held research meetings and opened a center of excellence.

我們舉辦研討會並建立了卓越中心。

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

我們發現，全球有超過 4000 人患有 PXE，

and held patient meetings

所以我們舉行了一場 病患交流會

and did clinical trials and studies.

並做了臨床試驗和研究。

Through all this,

整個過程裡，

we lived with fear.

我們一直很害怕。

Fear of the disease breathing down our neck

我們很害怕這個疾病緊迫盯人，

時間不夠用，

while the clock ticked.

Fear of researchers,

害怕那些

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

在全世界有良好信譽和 地位的研究專家。

Fear that we were making the wrong choices.

害怕我們做出了錯誤的選擇。

Fear that the naysayers were right

害怕那些唱反調的人是對的，

and the cats would simply find a new food.

害怕貓能輕鬆地找到新食物。

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

但比起這些害怕，更偉大的事是：

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

我們要為孩子與 一路上遇到的人做出改變。

And very quickly,

很快地，

we also realized what we were doing for one disease,

我們意識到了 我們只是在研究一種疾病，

we should do for all diseases.

我們應該為所有人研究所有的疾病。

We joined with, and I eventually led,

我們加入並之後帶領了

Genetic Alliance --

「基因聯盟」──

a network of health advocacy,

這是一個推廣健康、

patient advocacy,

病患權益的

research and health organizations.

衛生研究組織。

We built scalable and extensible resources,

我們建構了可規模化 和可拓展的資源，

like biobanks and registries and directories of support

像是生物銀行、

疾病支援的登錄與所有協助電話。

for all diseases.

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

當我愈了解這些疾病， 愈了解病患社群，

I realized that there were two secrets in health care

我就愈來愈意識到 在衛生保健有兩個秘密，

that were impacting me greatly.

它們對我影響很大。

The first:

第一：

there are no ready answers for people like my kids

無論是我的孩子 或是所有與我一起努力的人，

對他們來說，都沒有現成的答案。

or all the people I was working with,

whether common or rare conditions.

無論是普通疾病還是罕見疾病。

And the second secret:

第二個秘密：

the answers lie in all of us together,

答案就在大家身上，

donating our data,

我們要一起捐出我們的數據，

our biological samples

我們的生物樣本，

and ultimately ourselves.

最終奉獻我們自己。

There is a small groundswell of individuals

目前已經有些人帶領了這個風潮，

who are working to change this.

他們正致力於改變這件事。

Citizen scientists, activists, hacks

這些素人科學家、行動家、駭客們

who are using crowdsourcing, do-it-yourself science

正透過群眾外包、DIY 科學

are changing the game.

改變遊戲規則。

Even President Obama and Vice President Biden

連歐巴馬總統及副總統拜登

are evangelists for the idea

都在倡導傳播

that people should be partners in research.

「人人應該成為研究的合夥人 」 這樣的理念。

This is a founding principle of our organization.

這也是我們組織創立的初衷，

Sure, it's really hard

當然，

無論是干預或治療的領域， 其研究及發展都是很艱辛的，

to discover and develop interventions and therapies.

The science is hard,

科學本身就難，

the regulatory regime is difficult.

法規也很嚴格。

There are a lot of stakeholders with lots of interests

很多手中握有重大利益的投資人

and misaligned incentives like publishing, promotion and tenure.

以不當的激勵方式，

比如以發佈、晉升、 提供終生職位的方式吸引著科學家。

I don't fault scientists for following this path,

我不能怪科學家們跟他們走，

but I challenge them and us to do this differently.

但我希望他們也能和我們一樣，

To recognize that people are at the center.

認知到「人」才是中心。

Genetic Alliance has experimented

基因聯盟已經分析過

in what it will take to transform these crusty systems.

要付出多少才能 改變這些根生蒂固的體系。

Our goal is to work without boundaries.

我們的目標就是「工作無障礙」。

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

這聽起來很抽象，

但是對我們來說，這是最實際的。

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

當我們面對相關團體 不願意分享資料時的沮喪──

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

這些來自大眾的精力、時間、血樣，

and even their tears --

甚至是他們眼淚的資料──

we need to stop and ask,

我們不禁要停下來質問，

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

「可以分享，但卻不願意做， 這是真的嗎」？

We're part of this system, too.

大家都是其中的一分子啊。

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

我們要怎麽做才能讓人們 自由地分享這些想法呢？

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

怎麽做才能讓大家一起共患難， 肩並肩走在一起呢？

This leads to a dissolving of us versus them,

這樣做，合群的我們 才能和他們對抗，

not only for organizations but also for individuals.

這不僅是為了組織著想， 也是為病人的利益著想。

If I'm going to ask organizations or individuals

但如果我要求組織或個人這樣做，

to strive for these standards,

要求他們也要遵守這些原則，

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

那我也要反思我自己 並實際拿出行動。

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

如果我要求臨床醫生、

研究人員和管理者去冒險，

to take risks,

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

那，我莎朗，也需要冒險。

I need to face my personal fears.

我需要面對我個人的恐懼。

My fear of not having enough impact.

面對我自己還不夠有影響力的恐懼。

My fear of not leading well.

面對我會領導無方的恐懼。

My fear of not being enough.

面對我自己仍不夠格的恐懼。

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

就在孩子進入青少年時期前， 孩子用大人的口吻對我們說：

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

「你們不要再擔心 會不會做出的改變、

making an impact,

會不會帶來影響這些事，

and instead, like us, learn to live with disease

反之，你們要和我們一樣，

與疾病共舞，而不是抵抗它。」

rather than fight it."

I have to ask,

我必須問，

where does all my fear come from?

我的這些恐懼是從哪來的？

The kids' declaration shines a spotlight on that fear.

孩子們對我說的話， 像是靈光乍現，讓我明白到：

It arises from a bedrock of love.

我的恐懼是來自堅若磐石的愛。

I love Elizabeth and Ian.

我愛伊莉莎白和伊恩。

I love people with PXE.

我愛患有 PXE 的人們。

I love people with any disease.

我愛所有生病的人。

I love people.

我愛每一個人。

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

我其中的一些夥伴發現， 我們害怕的不是死亡，

it is the enormity of our loving.

而是我們無盡的愛。

This expansive love opens me to great pain

博愛所帶給我的痛苦

as I face loss.

就如同我面對失去一樣。

As I discover my fear,

所以當我發現我的恐懼，

I discover that I

我發現：

and all those around me

我和我身旁的人，

have boundless capacity for love.

都充滿了無盡的愛。

And I also discover

而且我還發現，

as I move into this fear,

當我沉浸在恐懼時，

that I can learn many new things

我可以學很多新事物，

and find paths

並找到

to things like practical solutions

實用的解決方法，

as well as the core of healing and health.

還有治癒及回復健康的關鍵。

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

我不再像以前一樣害怕。

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

其實最近，在眾同行者大力支持下，

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

我注意到，過去的這些現象 不再是一種警告。

I notice that instead,

反而是一種，

it's an invitation to go forward

前進的動力，

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

因為這裡面充滿了愛， 它能帶我們通往更偉大的愛，

If I turn with gentle curiosity toward that fear,

如果我以溫柔的好奇心 來面對這些恐懼，

I find enormous wealth within myself and others

我發現我和身邊的人， 內心都有著滿滿的感恩，

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

也充滿了面對挑戰的勇氣， 而這些都是我從未想過的。

My kids are ahead of me on that path still.

孩子們在這條路上 比我還要樂觀。

At ages 29 and 27,

他們現在一個 29 歲、一個 27 歲，

they declare they are happy and healthy

他們說他們現在很開心、健康，

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

儘管他們的皮膚、眼睛 還有動脈上仍有 PXE 的現象。

And so I invite you, us, we,

所以，我想邀請各位，

to turn toward our fear;

大家一起來面對恐懼；

to embrace the things that scare us

擁抱我們害怕的事情，

and find the love at the center.

在當中尋找愛。

We'll not only find ourselves there

我們不僅會發現自己就在愛裡，

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

更能真正體會我們恐懼的人，

and those who fear us.

及害怕我們的人。

If we breathe into that fear

如果我們能在那種恐懼中呼吸，

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

在挑戰我們的系統 和那些人面前保持柔軟，

our power as changemakers grows exponentially.

我們改變遊戲規則的力量 就能呈指數型成長。

And when we realize

而當我們意識到，

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

戰勝內在恐懼就能戰勝外在恐懼、

and outer work is inner work,

發現外在恐懼就等於內在恐懼時，

we get down to what is real

我們就能追尋真理，

and shit gets done.

並搞定鳥事。

(Laughter)

（笑聲）

There is no limit to what we can accomplish together.

我們一起同心協力， 能創造出無限可能。

Thank you.

謝謝。

(Applause)

（掌聲）