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

我家小孩這輩子最開心的聖誕節，

Elizabeth, age seven,

卻是我和我先生 這輩子最難過的聖誕節。

and her brother, Ian, age five,

七歲的伊莉莎白，

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

還有她五歲的弟弟，伊恩，

The reason Santa was so generous

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。

was because of something my husband Pat and I knew

聖誕老公公如此慷慨的原因，

and the kids couldn't comprehend.

是因為我的先生派德 和我能明白的東西，

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

孩子們並不能理解。

This was 1994

這東西我們才弄清楚 就嚇壞了我們。

and the story actually starts a few years earlier.

1994 年，

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

事實上故事要從更早幾年說起。

that looked like prickly heat.

那幾年，我注意到 伊莉莎白脖子邊上的皮疹，

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

看起來像是痱子。

and I was probably overanxious about illness.

同樣在那幾年，我父親與哥哥 兩個都因為癌症過世，

The doctors assured us there was nothing wrong

我當時可能對疾病反應過度了。

and I shouldn't worry,

醫生向我們保證絕對沒事，

but I wasn't so sure.

叫我不要擔心。

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

但我還是不放心。

I took Elizabeth to a dermatologist.

在沒有醫師轉診 並完全自費的情況下，

She was probably just allergic to something,

我帶伊莉莎白去找一位皮膚科專家。

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

她可能只是對某樣東西過敏，

So it's two days before Christmas,

但皮疹為什麼只出現在 她的脖子邊上？

1994,

在聖誕節前二天，

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

1994 年，

"She has pseudoxanthoma elasticum."

皮膚科專家看了一下 她的脖子便說道：

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

「她患有彈性纖維性假黃瘤。」

It turns out, by chance,

然後他關起燈來，看著她的眼睛。

this dermatologist also trained in ophthalmology.

原來，很剛好，

Our lucky day.

這位皮膚科醫師也曾學過眼科學。

I am sick to my stomach.

我們真幸運。

"Oma?"

我的胃開始不舒服。

Oma's like melanoma, lymphoma --

是「瘤」嗎？

cancer.

就像是黑色素瘤、

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

淋巴瘤那樣的癌症嗎？

I scream and make no sound.

「為什麼皮膚疹要看眼睛？」

So there it is.

我心中無聲地吶喊著。

Elizabeth has pseudoxanthoma elasticum,

果然，

PXE for short.

伊莉莎白得的是彈性纖維性假黃瘤，

Questions mix with fear

簡稱「PXE」。

and erupt like bile in my throat.

我心中充滿了恐懼與疑惑，

Why are you looking in her eyes?

喉嚨像是有膽汁要噴出來一樣。

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

你為什麼要看她的眼睛？

What is the prognosis?

你對此了解嗎？你怎麼那麼確定？

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

預後是什麼？

Dr. Bercovitch tells us everything he knows about PXE.

我在教牧輔導的訓練 可沒有學到這個。

It's a rare genetic disorder,

柏克維奇醫生告訴了我 他對 PXE 所知道的一切。

it's systemic,

這是一種罕見的遺傳性疾病，

it's a slowly progressing, premature aging disease.

它會全身發病，

It causes loose wrinkly skin in the flexor areas.

是種病程緩慢的早衰症。

It causes legal blindness,

它會使屈肌區的皮膚鬆弛。

like macular degeneration,

還會導致失明，

and a host of cardiovascular problems.

像是黃斑病變，

Little is known about this disease,

甚至會造成心血管疾病。

and some people die in their 30s,

人們對此疾病所知甚少，

say some of the reports at the time.

有些病人會在 30 多歲就死亡，

He then just glances at our son and says,

有些報告是這麼說的。

"He has it, too."

然後醫生看了一下我兒子又說：

We want to flee back to the land of normal.

「他也有。」

Two days after Christmas,

我們想回到以前正常的日子。

researchers come from a university in Boston,

聖誕節後第二天，

and they take blood from us and our children

來自波士頓一所大學的研究人員，

for a research project focused on finding the gene.

為了尋找該基因的研究專案，

A few days later,

從我們和孩子身上取走了血樣。

researchers come from a medical center in New York

幾天後，

and say they want blood, too.

紐約一所醫學中心的 研究人員也來了，

"These are children.

說他們也想要血樣。

They're five and seven years old.

「他們只是小孩子啊！

Don't make them face the needle twice.

一個五歲、一個七歲。

Go and get your share from the other researchers."

請不要讓他們再一次面對針頭。

They laugh, incredulous.

請你們離開去找 其他研究者與你們分享。」

"Share?"

他們簡直不敢相信地笑著，

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

「分享？」

This moment, more than any other,

後來我們才知道，

lit a fire beneath my husband Pat and me.

原來生物醫學界領域， 彼此是很少分享的。

Pat and I went to a medical school library

當下，就在那刻，

and we copied every article we could find on PXE.

我先生派德和我就火大了。

We didn't understand a thing.

我們去了一家醫學院的圖書館，

We bought medical dictionaries and scientific textbooks

影印了每篇我們所找到的 有關 PXE 的文章。

and read everything we could get our hands on.

我們根本一點都不懂。

And though we still didn't understand,

我們買了醫藥字典和科學教科書，

we could see patterns,

閱讀我們手邊所有的資料。

and it became quickly apparent within a month

雖然我們仍然不懂，

that there was no systematic effort to understand PXE.

但我們可以看圖，

In addition,

一個月後我們很快就了解

the lack of sharing that we experienced was pervasive.

這個疾病缺乏系統性的研究。

Researchers competed with each other

另外，

because the ecosystem was designed to reward competition

不願分享的情形到處可見。

rather than to alleviate suffering.

研究人員之間是相互競爭的，

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

因為大環境的設計鼓勵他們競爭，

to find solutions for ourselves and others like us.

而非減緩痛苦。

But we faced two major barriers.

我們認知到我們得在這樣的環境下 工作並尋找解決方法，

The first one:

不僅為了我們， 更為了像我們一樣的其他人。

Pat and I have no science background.

但我們遇到了兩大難題。

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

第一：

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

派德和我都沒有科學的背景。

hardly the backgrounds to take the research world by storm.

當時，他只是一家建築公司的經理，

The second barrier:

而我以前是一位 大學牧師兼家庭主婦，

researchers don't share.

根本沒有足夠的背景 來快速了解科學研究。

People told us you can't herd cats.

第二個難題就是：

Well, yes you can if you move their food.

研究人員根本不願意分享。

(Laughter)

大家都說，你無法讓 一群貓聽你的話。

(Applause)

其實，你可以的， 只要你移動牠們的食物。

DNA and clinical data is the food.

（笑聲）

So we would collect blood and medical histories,

（掌聲）

and require that all scientists using these resources

DNA 及臨床資料就是他們的食物。

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

所以，我們收集了血樣及用藥歷史，

Well before the internet was in common use,

並要求所有使用這些資源的科學家，

Pat and I established PXE International,

要彼此分享研究成果， 還要分享給捐贈人。

a nonprofit dedicated to initiating research and conducting it on PXE

在網路尚未被廣泛使用時，

and also supporting individuals with the disease.

派德和我建立了「PXE 國際組織」，

Using traditional media,

它是一個致力於開展和引導 PXE 研究的非營利組織，

we garnered around 100-150 people around the world

並為患有該疾病的人提供支持。

who we asked,

透過傳統媒介，

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

我們收集了全球大約 100 到 150 個人的資料，

your medical records?

我們會問他們，

And we brought all of that together.

你願意給我們你的 血樣、組織樣本、用藥紀錄

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

和病歷嗎？

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

然後我們把這些資料整理起來。

hardcore research.

我們很快了解到 這樣的資源分享是遠遠不夠的。

So we borrowed bench space at a lab at Harvard.

因此我們決定去實驗室做——

A wonderful neighbor came a couple times a week

紮實的基礎研究。

and sat with the kids from 8pm to 2am

所以我們在哈佛大學 借了一個工作台，

while Pat and I extracted DNA,

有一個很好心的鄰居一周會來幾次，

ran and scored gels

從晚上八點到凌晨兩點陪伴孩子們，

and searched for the gene.

讓派德和我可以安心地抽取 DNA、

Generous postdocs tutored us as we went along.

跑凝膠、

Within a few years, we found the gene.

尋找基因。

We patented it so that it would be freely available.

另外有一些慷慨的 博士後人員在指導我們。

We created a diagnostic test.

不過幾年，我們就找到了基因。

We put together a research consortium.

我們取得了專利以便免費使用。

We held research meetings and opened a center of excellence.

我們建立了一個診斷的測試方法，

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

我們組織了一個研究聯盟，

and held patient meetings

我們舉辦研討會並建立了卓越中心。

and did clinical trials and studies.

我們發現，全球有超過 4000 人患有 PXE，

Through all this,

所以我們舉行了一場 病患交流會

we lived with fear.

並做了臨床試驗和研究。

Fear of the disease breathing down our neck

整個過程裡，

while the clock ticked.

我們一直很害怕。

Fear of researchers,

我們很害怕這個疾病緊迫盯人，

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

時間不夠用，

Fear that we were making the wrong choices.

害怕那些

Fear that the naysayers were right

在全世界有良好信譽和 地位的研究專家。

and the cats would simply find a new food.

害怕我們做出了錯誤的選擇。

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

害怕那些唱反調的人是對的，

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

害怕貓能輕鬆地找到新食物。

And very quickly,

但比起這些害怕，更偉大的事是：

we also realized what we were doing for one disease,

我們要為孩子與 一路上遇到的人做出改變。

we should do for all diseases.

很快地，

We joined with, and I eventually led,

我們意識到了 我們只是在研究一種疾病，

Genetic Alliance --

我們應該為所有人研究所有的疾病。

a network of health advocacy,

我們加入並之後帶領了

patient advocacy,

「基因聯盟」──

research and health organizations.

這是一個推廣健康、

We built scalable and extensible resources,

病患權益的

like biobanks and registries and directories of support

衛生研究組織。

for all diseases.

我們建構了可規模化 和可拓展的資源，

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

像是生物銀行、

I realized that there were two secrets in health care

疾病支援的登錄與所有協助電話。

that were impacting me greatly.

當我愈了解這些疾病， 愈了解病患社群，

The first:

我就愈來愈意識到 在衛生保健有兩個秘密，

there are no ready answers for people like my kids

它們對我影響很大。

or all the people I was working with,

第一：

whether common or rare conditions.

無論是我的孩子 或是所有與我一起努力的人，

And the second secret:

對他們來說，都沒有現成的答案。

the answers lie in all of us together,

無論是普通疾病還是罕見疾病。

donating our data,

第二個秘密：

our biological samples

答案就在大家身上，

and ultimately ourselves.

我們要一起捐出我們的數據，

There is a small groundswell of individuals

我們的生物樣本，

who are working to change this.

最終奉獻我們自己。

Citizen scientists, activists, hacks

目前已經有些人帶領了這個風潮，

who are using crowdsourcing, do-it-yourself science

他們正致力於改變這件事。

are changing the game.

這些素人科學家、行動家、駭客們

Even President Obama and Vice President Biden

正透過群眾外包、DIY 科學

are evangelists for the idea

改變遊戲規則。

that people should be partners in research.

連歐巴馬總統及副總統拜登

This is a founding principle of our organization.

都在倡導傳播

Sure, it's really hard

「人人應該成為研究的合夥人 」 這樣的理念。

to discover and develop interventions and therapies.

這也是我們組織創立的初衷，

The science is hard,

當然，

the regulatory regime is difficult.

無論是干預或治療的領域， 其研究及發展都是很艱辛的，

There are a lot of stakeholders with lots of interests

科學本身就難，

and misaligned incentives like publishing, promotion and tenure.

法規也很嚴格。

I don't fault scientists for following this path,

很多手中握有重大利益的投資人

but I challenge them and us to do this differently.

以不當的激勵方式，

To recognize that people are at the center.

比如以發佈、晉升、 提供終生職位的方式吸引著科學家。

Genetic Alliance has experimented

我不能怪科學家們跟他們走，

in what it will take to transform these crusty systems.

但我希望他們也能和我們一樣，

Our goal is to work without boundaries.

認知到「人」才是中心。

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

基因聯盟已經分析過

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

要付出多少才能 改變這些根生蒂固的體系。

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

我們的目標就是「工作無障礙」。

and even their tears --

這聽起來很抽象，

we need to stop and ask,

但是對我們來說，這是最實際的。

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

當我們面對相關團體 不願意分享資料時的沮喪──

We're part of this system, too.

這些來自大眾的精力、時間、血樣，

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

甚至是他們眼淚的資料──

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

我們不禁要停下來質問，

This leads to a dissolving of us versus them,

「可以分享，但卻不願意做， 這是真的嗎」？

not only for organizations but also for individuals.

大家都是其中的一分子啊。

If I'm going to ask organizations or individuals

我們要怎麽做才能讓人們 自由地分享這些想法呢？

to strive for these standards,

怎麽做才能讓大家一起共患難， 肩並肩走在一起呢？

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

這樣做，合群的我們 才能和他們對抗，

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

這不僅是為了組織著想， 也是為病人的利益著想。

to take risks,

但如果我要求組織或個人這樣做，

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

要求他們也要遵守這些原則，

I need to face my personal fears.

那我也要反思我自己 並實際拿出行動。

My fear of not having enough impact.

如果我要求臨床醫生、

My fear of not leading well.

研究人員和管理者去冒險，

My fear of not being enough.

那，我莎朗，也需要冒險。

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

我需要面對我個人的恐懼。

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

面對我自己還不夠有影響力的恐懼。

making an impact,

面對我會領導無方的恐懼。

and instead, like us, learn to live with disease

面對我自己仍不夠格的恐懼。

rather than fight it."

就在孩子進入青少年時期前， 孩子用大人的口吻對我們說：

I have to ask,

「你們不要再擔心 會不會做出的改變、

where does all my fear come from?

會不會帶來影響這些事，

The kids' declaration shines a spotlight on that fear.

反之，你們要和我們一樣，

It arises from a bedrock of love.

與疾病共舞，而不是抵抗它。」

I love Elizabeth and Ian.

我必須問，

I love people with PXE.

我的這些恐懼是從哪來的？

I love people with any disease.

孩子們對我說的話， 像是靈光乍現，讓我明白到：

I love people.

我的恐懼是來自堅若磐石的愛。

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

我愛伊莉莎白和伊恩。

it is the enormity of our loving.

我愛患有 PXE 的人們。

This expansive love opens me to great pain

我愛所有生病的人。

as I face loss.

我愛每一個人。

As I discover my fear,

我其中的一些夥伴發現， 我們害怕的不是死亡，

I discover that I

而是我們無盡的愛。

and all those around me

博愛所帶給我的痛苦

have boundless capacity for love.

就如同我面對失去一樣。

And I also discover

所以當我發現我的恐懼，

as I move into this fear,

我發現：

that I can learn many new things

我和我身旁的人，

and find paths

都充滿了無盡的愛。

to things like practical solutions

而且我還發現，

as well as the core of healing and health.

當我沉浸在恐懼時，

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

我可以學很多新事物，

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

並找到

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

實用的解決方法，

I notice that instead,

還有治癒及回復健康的關鍵。

it's an invitation to go forward

我不再像以前一樣害怕。

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

其實最近，在眾同行者大力支持下，

If I turn with gentle curiosity toward that fear,

我注意到，過去的這些現象 不再是一種警告。

I find enormous wealth within myself and others

反而是一種，

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

前進的動力，

My kids are ahead of me on that path still.