0:00:00.440,0:00:03.576
The best Christmas my children ever had

0:00:03.600,0:00:06.920
was also the worst Christmas[br]my husband and I ever had.

0:00:07.800,0:00:09.616
Elizabeth, age seven,

0:00:09.640,0:00:12.496
and her brother, Ian, age five,

0:00:12.520,0:00:16.239
couldn't imagine why they were getting[br]everything they wanted for Christmas.

0:00:17.240,0:00:19.960
The reason Santa was so generous

0:00:20.760,0:00:24.016
was because of something[br]my husband Pat and I knew

0:00:24.040,0:00:25.880
and the kids couldn't comprehend.

0:00:26.440,0:00:29.600
Something that we had just learned,[br]and it terrified us.

0:00:31.560,0:00:33.816
This was 1994

0:00:33.840,0:00:36.200
and the story actually starts[br]a few years earlier.

0:00:36.800,0:00:41.600
For a couple of years I had noticed[br]a rash on the sides of Elizabeth's neck

0:00:42.400,0:00:43.880
that looked like prickly heat.

0:00:44.960,0:00:48.840
For those same years,[br]my father and brother both died of cancer,

0:00:49.600,0:00:52.280
and I was probably[br]overanxious about illness.

0:00:53.120,0:00:55.896
The doctors assured us[br]there was nothing wrong

0:00:55.920,0:00:57.656
and I shouldn't worry,

0:00:57.680,0:00:59.080
but I wasn't so sure.

0:01:00.200,0:01:03.296
And so without a referral,[br]and paying out-of-pocket,

0:01:03.320,0:01:05.519
I took Elizabeth to a dermatologist.

0:01:06.560,0:01:08.896
She was probably[br]just allergic to something,

0:01:08.920,0:01:13.320
but why did it appear[br]just on the sides of her neck, this rash?

0:01:14.840,0:01:16.776
So it's two days before Christmas,

0:01:16.800,0:01:18.000
1994,

0:01:19.200,0:01:22.576
and the dermatologist[br]takes a quick look at her neck and says,

0:01:22.600,0:01:24.640
"She has pseudoxanthoma elasticum."

0:01:25.640,0:01:29.240
And then he shuts off the lights[br]and looks in her eyes.

0:01:30.320,0:01:31.976
It turns out, by chance,

0:01:32.000,0:01:35.120
this dermatologist[br]also trained in ophthalmology.

0:01:36.080,0:01:37.280
Our lucky day.

0:01:39.400,0:01:41.160
I am sick to my stomach.

0:01:41.640,0:01:42.896
"Oma?"

0:01:42.920,0:01:45.816
Oma's like melanoma, lymphoma --

0:01:45.840,0:01:47.040
cancer.

0:01:47.840,0:01:51.576
"Why are you looking[br]in her eyes for a skin rash?"

0:01:51.600,0:01:53.680
I scream and make no sound.

0:01:54.720,0:01:55.920
So there it is.

0:01:56.800,0:02:00.360
Elizabeth has pseudoxanthoma elasticum,

0:02:01.440,0:02:03.000
PXE for short.

0:02:04.880,0:02:07.176
Questions mix with fear

0:02:07.200,0:02:09.400
and erupt like bile in my throat.

0:02:09.919,0:02:11.640
Why are you looking in her eyes?

0:02:12.840,0:02:15.816
What do you know about this?[br]How do you know for sure?

0:02:15.840,0:02:17.320
What is the prognosis?

0:02:18.200,0:02:21.920
My training in pastoral counseling[br]did not prepare me for this.

0:02:23.680,0:02:27.560
Dr. Bercovitch tells us[br]everything he knows about PXE.

0:02:28.840,0:02:30.600
It's a rare genetic disorder,

0:02:31.800,0:02:33.000
it's systemic,

0:02:34.040,0:02:37.960
it's a slowly progressing,[br]premature aging disease.

0:02:38.840,0:02:42.400
It causes loose wrinkly skin[br]in the flexor areas.

0:02:43.600,0:02:45.536
It causes legal blindness,

0:02:45.560,0:02:47.280
like macular degeneration,

0:02:47.960,0:02:50.680
and a host of cardiovascular problems.

0:02:51.680,0:02:53.760
Little is known about this disease,

0:02:54.600,0:02:57.416
and some people die in their 30s,

0:02:57.440,0:02:59.920
say some of the reports at the time.

0:03:01.440,0:03:04.240
He then just glances at our son and says,

0:03:06.120,0:03:07.320
"He has it, too."

0:03:09.400,0:03:14.240
We want to flee[br]back to the land of normal.

0:03:18.920,0:03:20.336
Two days after Christmas,

0:03:20.360,0:03:23.376
researchers come[br]from a university in Boston,

0:03:23.400,0:03:25.896
and they take blood[br]from us and our children

0:03:25.920,0:03:28.560
for a research project[br]focused on finding the gene.

0:03:29.360,0:03:30.736
A few days later,

0:03:30.760,0:03:33.176
researchers come[br]from a medical center in New York

0:03:33.200,0:03:34.720
and say they want blood, too.

0:03:35.520,0:03:36.920
"These are children.

0:03:37.560,0:03:39.656
They're five and seven years old.

0:03:39.680,0:03:41.680
Don't make them face the needle twice.

0:03:42.360,0:03:45.400
Go and get your share[br]from the other researchers."

0:03:46.440,0:03:48.656
They laugh, incredulous.

0:03:48.680,0:03:49.880
"Share?"

0:03:51.200,0:03:55.600
It is then that we learn that there[br]is little sharing in biomedical research.

0:03:56.520,0:03:59.216
This moment, more than any other,

0:03:59.240,0:04:01.880
lit a fire beneath my husband Pat and me.

0:04:03.640,0:04:05.816
Pat and I went to a medical school library

0:04:05.840,0:04:08.800
and we copied every article[br]we could find on PXE.

0:04:09.720,0:04:11.680
We didn't understand a thing.

0:04:12.840,0:04:15.576
We bought medical dictionaries[br]and scientific textbooks

0:04:15.600,0:04:17.743
and read everything[br]we could get our hands on.

0:04:18.560,0:04:20.416
And though we still didn't understand,

0:04:20.440,0:04:22.296
we could see patterns,

0:04:22.320,0:04:25.696
and it became quickly[br]apparent within a month

0:04:25.720,0:04:29.680
that there was no systematic effort[br]to understand PXE.

0:04:31.000,0:04:32.216
In addition,

0:04:32.240,0:04:35.480
the lack of sharing[br]that we experienced was pervasive.

0:04:36.480,0:04:38.760
Researchers competed with each other

0:04:39.640,0:04:43.680
because the ecosystem[br]was designed to reward competition

0:04:44.560,0:04:46.520
rather than to alleviate suffering.

0:04:47.840,0:04:52.856
We realized that we would have to do[br]work on this condition ourselves

0:04:52.880,0:04:56.400
to find solutions[br]for ourselves and others like us.

0:04:57.560,0:04:59.896
But we faced two major barriers.

0:04:59.920,0:05:01.416
The first one:

0:05:01.440,0:05:03.800
Pat and I have no science background.

0:05:04.920,0:05:08.336
At the time, he's the manager[br]of a construction company,

0:05:08.360,0:05:12.216
and I'm a former college chaplain[br]stay-at-home mom --

0:05:12.240,0:05:15.880
hardly the backgrounds[br]to take the research world by storm.

0:05:17.480,0:05:19.160
The second barrier:

0:05:20.360,0:05:21.840
researchers don't share.

0:05:23.000,0:05:25.520
People told us you can't herd cats.

0:05:26.640,0:05:30.176
Well, yes you can if you move their food.

0:05:30.200,0:05:32.240
(Laughter)

0:05:33.400,0:05:36.960
(Applause)

0:05:37.400,0:05:40.400
DNA and clinical data is the food.

0:05:40.960,0:05:44.096
So we would collect blood[br]and medical histories,

0:05:44.120,0:05:47.696
and require that all scientists[br]using these resources

0:05:47.720,0:05:51.400
would share results with each other[br]and with the people who donated.

0:05:53.080,0:05:55.296
Well before the internet[br]was in common use,

0:05:55.320,0:05:58.176
Pat and I established PXE International,

0:05:58.200,0:06:03.096
a nonprofit dedicated to initiating[br]research and conducting it on PXE

0:06:03.120,0:06:06.600
and also supporting[br]individuals with the disease.

0:06:07.840,0:06:09.176
Using traditional media,

0:06:09.200,0:06:13.616
we garnered around[br]100-150 people around the world

0:06:13.640,0:06:14.896
who we asked,

0:06:14.920,0:06:18.176
would you give us your blood,[br]your tissue, your medical histories,

0:06:18.200,0:06:19.400
your medical records?

0:06:20.200,0:06:22.040
And we brought all of that together.

0:06:22.920,0:06:26.880
We quickly learned that this shared[br]resource was not going to be enough.

0:06:27.920,0:06:33.256
And so we decided we had[br]to do hardcore bench science --

0:06:33.280,0:06:34.640
hardcore research.

0:06:35.400,0:06:37.720
So we borrowed bench space[br]at a lab at Harvard.

0:06:38.200,0:06:40.976
A wonderful neighbor[br]came a couple times a week

0:06:41.000,0:06:45.056
and sat with the kids from 8pm to 2am

0:06:45.080,0:06:47.416
while Pat and I extracted DNA,

0:06:47.440,0:06:49.176
ran and scored gels

0:06:49.200,0:06:50.480
and searched for the gene.

0:06:51.240,0:06:53.720
Generous postdocs[br]tutored us as we went along.

0:06:54.640,0:06:56.840
Within a few years, we found the gene.

0:06:57.360,0:07:00.376
We patented it so that[br]it would be freely available.

0:07:00.400,0:07:02.456
We created a diagnostic test.

0:07:02.480,0:07:04.640
We put together a research consortium.

0:07:05.600,0:07:08.800
We held research meetings[br]and opened a center of excellence.

0:07:09.360,0:07:14.736
We found more than 4,000 people[br]around the world who had PXE,

0:07:14.760,0:07:16.696
and held patient meetings

0:07:16.720,0:07:19.280
and did clinical trials and studies.

0:07:20.840,0:07:22.336
Through all this,

0:07:22.360,0:07:23.640
we lived with fear.

0:07:25.040,0:07:27.840
Fear of the disease[br]breathing down our neck

0:07:29.360,0:07:30.680
while the clock ticked.

0:07:31.280,0:07:33.440
Fear of researchers,

0:07:34.200,0:07:38.040
so well credentialed and positioned[br]in a world made for them.

0:07:38.920,0:07:41.360
Fear that we were making[br]the wrong choices.

0:07:42.440,0:07:44.776
Fear that the naysayers were right

0:07:44.800,0:07:47.920
and the cats would simply find a new food.

0:07:48.800,0:07:51.976
But greater than all these fears[br]was our drive to make a difference

0:07:52.000,0:07:55.000
for our kids and for all those[br]we had met along the way.

0:07:56.280,0:07:57.496
And very quickly,

0:07:57.520,0:08:00.256
we also realized what we[br]were doing for one disease,

0:08:00.280,0:08:02.400
we should do for all diseases.

0:08:04.200,0:08:06.016
We joined with, and I eventually led,

0:08:06.040,0:08:07.256
Genetic Alliance --

0:08:07.280,0:08:09.576
a network of health advocacy,

0:08:09.600,0:08:10.816
patient advocacy,

0:08:10.840,0:08:12.480
research and health organizations.

0:08:13.160,0:08:15.616
We built scalable[br]and extensible resources,

0:08:15.640,0:08:18.456
like biobanks and registries[br]and directories of support

0:08:18.480,0:08:19.800
for all diseases.

0:08:20.800,0:08:24.856
And as I learned about all those diseases[br]and all those disease communities,

0:08:24.880,0:08:27.736
I realized that there were[br]two secrets in health care

0:08:27.760,0:08:29.560
that were impacting me greatly.

0:08:30.480,0:08:31.736
The first:

0:08:31.760,0:08:35.176
there are no ready answers[br]for people like my kids

0:08:35.200,0:08:37.135
or all the people I was working with,

0:08:37.159,0:08:39.200
whether common or rare conditions.

0:08:39.919,0:08:41.159
And the second secret:

0:08:41.760,0:08:45.856
the answers lie in all of us together,

0:08:45.880,0:08:47.360
donating our data,

0:08:48.240,0:08:50.536
our biological samples

0:08:50.560,0:08:52.280
and ultimately ourselves.

0:08:54.440,0:08:57.776
There is a small[br]groundswell of individuals

0:08:57.800,0:09:00.056
who are working to change this.

0:09:00.080,0:09:03.136
Citizen scientists, activists, hacks

0:09:03.160,0:09:06.336
who are using crowdsourcing,[br]do-it-yourself science

0:09:06.360,0:09:07.560
are changing the game.

0:09:08.600,0:09:11.520
Even President Obama[br]and Vice President Biden

0:09:12.680,0:09:14.376
are evangelists for the idea

0:09:14.400,0:09:16.880
that people should be[br]partners in research.

0:09:17.680,0:09:20.280
This is a founding principle[br]of our organization.

0:09:20.960,0:09:23.096
Sure, it's really hard

0:09:23.120,0:09:26.320
to discover and develop[br]interventions and therapies.

0:09:27.480,0:09:29.816
The science is hard,

0:09:29.840,0:09:32.120
the regulatory regime is difficult.

0:09:32.960,0:09:35.976
There are a lot of stakeholders[br]with lots of interests

0:09:36.000,0:09:40.280
and misaligned incentives[br]like publishing, promotion and tenure.

0:09:41.360,0:09:44.776
I don't fault scientists[br]for following this path,

0:09:44.800,0:09:47.640
but I challenge them and us[br]to do this differently.

0:09:48.400,0:09:51.560
To recognize that people[br]are at the center.

0:09:53.400,0:09:55.176
Genetic Alliance has experimented

0:09:55.200,0:09:58.680
in what it will take[br]to transform these crusty systems.

0:10:00.920,0:10:03.160
Our goal is to work without boundaries.

0:10:03.880,0:10:07.000
That sounds abstract,[br]but for us it's quite practical.

0:10:09.400,0:10:13.096
When we're frustrated[br]that entities won't share data --

0:10:13.120,0:10:18.216
data that comes from people who gave[br]their energy, their time, their blood

0:10:18.240,0:10:19.760
and even their tears --

0:10:20.520,0:10:22.136
we need to stop and ask,

0:10:22.160,0:10:25.280
"How is it true that we[br]could share, but we aren't?"

0:10:25.840,0:10:27.360
We're part of this system, too.

0:10:30.440,0:10:34.560
How do we make it[br]so that people can share ideas freely?

0:10:35.400,0:10:39.880
So that people can take risks[br]and move closer to one another?

0:10:41.480,0:10:44.736
This leads to a dissolving[br]of us versus them,

0:10:44.760,0:10:48.120
not only for organizations[br]but also for individuals.

0:10:48.720,0:10:52.096
If I'm going to ask[br]organizations or individuals

0:10:52.120,0:10:54.336
to strive for these standards,

0:10:54.360,0:10:59.240
then I too need to explore[br]my own being and my practices.

0:11:00.120,0:11:03.376
If I'm going to ask clinicians[br]and researchers and administrators

0:11:03.400,0:11:04.976
to take risks,

0:11:05.000,0:11:08.000
then I, Sharon,[br]need to take risks as well.

0:11:08.840,0:11:11.680
I need to face my personal fears.

0:11:12.680,0:11:15.560
My fear of not having enough impact.

0:11:17.400,0:11:19.880
My fear of not leading well.

0:11:21.000,0:11:23.920
My fear of not being enough.

0:11:26.720,0:11:30.656
Just before they entered their teens,[br]our kids stopped us in our tracks

0:11:30.680,0:11:34.376
and said, "You have to stop worrying[br]about making a difference,

0:11:34.400,0:11:35.656
making an impact,

0:11:35.680,0:11:39.656
and instead, like us,[br]learn to live with disease

0:11:39.680,0:11:41.560
rather than fight it."

0:11:44.600,0:11:45.896
I have to ask,

0:11:45.920,0:11:48.160
where does all my fear come from?

0:11:49.320,0:11:53.080
The kids' declaration[br]shines a spotlight on that fear.

0:11:53.760,0:11:56.840
It arises from a bedrock of love.

0:11:57.920,0:12:00.480
I love Elizabeth and Ian.

0:12:02.320,0:12:04.440
I love people with PXE.

0:12:05.520,0:12:07.640
I love people with any disease.

0:12:08.720,0:12:09.920
I love people.

0:12:12.520,0:12:17.136
Some of my colleagues have discovered[br]that it is not death we fear,

0:12:17.160,0:12:19.360
it is the enormity of our loving.

0:12:20.760,0:12:25.536
This expansive love opens me to great pain

0:12:25.560,0:12:27.280
as I face loss.

0:12:29.040,0:12:31.400
As I discover my fear,

0:12:32.160,0:12:33.936
I discover that I

0:12:33.960,0:12:35.576
and all those around me

0:12:35.600,0:12:38.320
have boundless capacity for love.

0:12:41.640,0:12:43.040
And I also discover

0:12:44.240,0:12:45.840
as I move into this fear,

0:12:47.400,0:12:49.856
that I can learn many new things

0:12:49.880,0:12:51.240
and find paths

0:12:52.320,0:12:56.176
to things like practical solutions

0:12:56.200,0:12:59.360
as well as the core of healing and health.

0:13:03.000,0:13:06.560
I don't fear fear the way I used to.

0:13:08.560,0:13:13.696
In fact lately, with enormous support[br]from all my fellow journeyers,

0:13:13.720,0:13:17.040
I notice that it's not a warning[br]the way it used to be.

0:13:18.040,0:13:20.896
I notice that instead,

0:13:20.920,0:13:22.816
it's an invitation to go forward

0:13:22.840,0:13:26.080
because in it lies love[br]and the path to greater love.

0:13:27.640,0:13:31.240
If I turn with gentle curiosity[br]toward that fear,

0:13:32.800,0:13:37.856
I find enormous wealth[br]within myself and others

0:13:37.880,0:13:41.200
and the ability to step into challenges[br]that I never thought I could.

0:13:42.960,0:13:45.320
My kids are ahead of me[br]on that path still.

0:13:46.360,0:13:48.256
At ages 29 and 27,

0:13:48.280,0:13:50.736
they declare they are happy and healthy

0:13:50.760,0:13:55.880
despite having manifestations of PXE[br]in their skin and eyes and arteries.

0:13:57.160,0:14:00.496
And so I invite you, us, we,

0:14:00.520,0:14:02.096
to turn toward our fear;

0:14:02.120,0:14:05.056
to embrace the things that scare us

0:14:05.080,0:14:07.216
and find the love at the center.

0:14:07.240,0:14:09.456
We'll not only find ourselves there

0:14:09.480,0:14:13.456
but we'll also be able[br]to step into the shoes of those we fear

0:14:13.480,0:14:14.840
and those who fear us.

0:14:15.440,0:14:17.520
If we breathe into that fear

0:14:18.560,0:14:23.216
and are vulnerable with the systems[br]and people who challenge us,

0:14:23.240,0:14:27.320
our power as changemakers[br]grows exponentially.

0:14:28.400,0:14:29.656
And when we realize

0:14:29.680,0:14:33.336
that working on our inner life[br]is working on our outer life

0:14:33.360,0:14:36.096
and outer work is inner work,

0:14:36.120,0:14:38.256
we get down to what is real

0:14:38.280,0:14:39.696
and shit gets done.

0:14:39.720,0:14:41.176
(Laughter)

0:14:41.200,0:14:45.016
There is no limit[br]to what we can accomplish together.

0:14:45.040,0:14:46.256
Thank you.

0:14:46.280,0:14:48.840
(Applause)