WEBVTT

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The best Christmas my children ever had

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

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Elizabeth, age seven,

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and her brother, Ian, age five,

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

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The reason Santa was so generous

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was because of something
my husband Pat and I knew

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and the kids couldn't comprehend.

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

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This was 1994

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and the story actually starts
a few years earlier.

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

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that looked like prickly heat.

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

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and I was probably
overanxious about illness.

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The doctors assured us
there was nothing wrong

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and I shouldn't worry,

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but I wasn't so sure.

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

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I took Elizabeth to a dermatologist.

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She was probably
just allergic to something,

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

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So it's two days before Christmas,

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1994,

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

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"She has pseudoxanthoma elasticum."

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

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It turns out, by chance,

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this dermatologist
also trained in ophthalmology.

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Our lucky day.

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I am sick to my stomach.

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"Oma?"

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Oma's like melanoma, lymphoma --

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cancer.

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

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I scream and make no sound.

NOTE Paragraph

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So there it is.

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Elizabeth has pseudoxanthoma elasticum,

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PXE for short.

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Questions mix with fear

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and erupt like bile in my throat.

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Why are you looking in her eyes?

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

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What is the prognosis?

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

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Dr. Bercovitch tells us
everything he knows about PXE.

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It's a rare genetic disorder,

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it's systemic,

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it's a slowly progressing,
premature aging disease.

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It causes loose wrinkly skin
in the flexor areas.

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It causes legal blindness,

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like macular degeneration,

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and a host of cardiovascular problems.

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Little is known about this disease,

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and some people die in their 30s,

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say some of the reports at the time.

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He then just glances at our son and says,

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"He has it, too."

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We want to flee
back to the land of normal.

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Two days after Christmas,

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researchers come
from a university in Boston,

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and they take blood
from us and our children

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for a research project
focused on finding the gene.

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A few days later,

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researchers come
from a medical center in New York

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and say they want blood, too.

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"These are children.

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They're five and seven years old.

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Don't make them face the needle twice.

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Go and get your share
from the other researchers."

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They laugh, incredulous.

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"Share?"

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

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This moment, more than any other,

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lit a fire beneath my husband Pat and me.

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Pat and I went to a medical school library

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and we copied every article
we could find on PXE.

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We didn't understand a thing.

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We bought medical dictionaries
and scientific textbooks

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and read everything
we could get our hands on.

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And though we still didn't understand,

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we could see patterns,

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and it became quickly
apparent within a month

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that there was no systematic effort
to understand PXE.

NOTE Paragraph

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In addition,

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the lack of sharing
that we experienced was pervasive.

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Researchers competed with each other

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because the ecosystem
was designed to reward competition

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rather than to alleviate suffering.

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

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to find solutions
for ourselves and others like us.

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But we faced two major barriers.

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The first one:

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Pat and I have no science background.

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

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

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hardly the backgrounds
to take the research world by storm.

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The second barrier:

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researchers don't share.

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People told us you can't herd cats.

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Well, yes you can if you move their food.

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(Laughter)

NOTE Paragraph

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(Applause)

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DNA and clinical data is the food.

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So we would collect blood
and medical histories,

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and require that all scientists
using these resources

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

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Well before the internet
was in common use,

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Pat and I established PXE International,

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a nonprofit dedicated to initiating
research and conducting it on PXE

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and also supporting
individuals with the disease.

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Using traditional media,

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we garnered around
100-150 people around the world

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who we asked,

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

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your medical records?

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And we brought all of that together.

NOTE Paragraph

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

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

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hardcore research.

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So we borrowed bench space
at a lab at Harvard.

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A wonderful neighbor
came a couple times a week

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and sat with the kids from 8pm to 2am

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while Pat and I extracted DNA,

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ran and scored gels

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and searched for the gene.

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Generous postdocs
tutored us as we went along.

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Within a few years, we found the gene.

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We patented it so that
it would be freely available.

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We created a diagnostic test.

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We put together a research consortium.

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We held research meetings
and opened a center of excellence.

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

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and held patient meetings

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and did clinical trials and studies.

NOTE Paragraph

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Through all this,

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we lived with fear.

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Fear of the disease
breathing down our neck

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while the clock ticked.

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Fear of researchers,

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

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Fear that we were making
the wrong choices.

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Fear that the naysayers were right

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and the cats would simply find a new food.

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

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

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And very quickly,

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we also realized what we
were doing for one disease,

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we should do for all diseases.

NOTE Paragraph

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We joined with, and I eventually led,

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Genetic Alliance --

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a network of health advocacy,

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patient advocacy,

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research and health organizations.

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We built scalable
and extensible resources,

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like biobanks and registries
and directories of support

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for all diseases.

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

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I realized that there were
two secrets in health care

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that were impacting me greatly.

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The first:

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there are no ready answers
for people like my kids

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or all the people I was working with,

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whether common or rare conditions.

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And the second secret:

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the answers lie in all of us together,

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donating our data,

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our biological samples

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and ultimately ourselves.

NOTE Paragraph

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There is a small
groundswell of individuals

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who are working to change this.

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Citizen scientists, activists, hacks

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who are using crowdsourcing,
do-it-yourself science

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are changing the game.

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Even President Obama
and Vice President Biden

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are evangelists for the idea

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that people should be
partners in research.

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This is a founding principle
of our organization.

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Sure, it's really hard

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to discover and develop
interventions and therapies.

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The science is hard,

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the regulatory regime is difficult.

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There are a lot of stakeholders
with lots of interests

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and misaligned incentives
like publishing, promotion and tenure.

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I don't fault scientists
for following this path,

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but I challenge them and us
to do this differently.

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To recognize that people
are at the center.

NOTE Paragraph

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Genetic Alliance has experimented

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in what it will take
to transform these crusty systems.

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Our goal is to work without boundaries.

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

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

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

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and even their tears --

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we need to stop and ask,

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

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We're part of this system, too.

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

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

NOTE Paragraph

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This leads to a dissolving
of us versus them,

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not only for organizations
but also for individuals.

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If I'm going to ask
organizations or individuals

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to strive for these standards,

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

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

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to take risks,

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

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I need to face my personal fears.

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My fear of not having enough impact.

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My fear of not leading well.

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My fear of not being enough.

NOTE Paragraph

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

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

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making an impact,

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and instead, like us,
learn to live with disease

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rather than fight it."

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I have to ask,

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where does all my fear come from?

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The kids' declaration
shines a spotlight on that fear.

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It arises from a bedrock of love.

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I love Elizabeth and Ian.

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I love people with PXE.

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I love people with any disease.

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I love people.

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

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it is the enormity of our loving.

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This expansive love opens me to great pain

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as I face loss.

NOTE Paragraph

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As I discover my fear,

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I discover that I

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and all those around me

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have boundless capacity for love.

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And I also discover

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as I move into this fear,

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that I can learn many new things

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and find paths

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to things like practical solutions

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as well as the core of healing and health.

NOTE Paragraph

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

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

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

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I notice that instead,

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it's an invitation to go forward

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

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If I turn with gentle curiosity
toward that fear,

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I find enormous wealth
within myself and others

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

NOTE Paragraph

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My kids are ahead of me
on that path still.

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At ages 29 and 27,

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they declare they are happy and healthy

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

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And so I invite you, us, we,

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to turn toward our fear;

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to embrace the things that scare us

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and find the love at the center.

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We'll not only find ourselves there

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

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and those who fear us.

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If we breathe into that fear

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

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our power as changemakers
grows exponentially.

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And when we realize

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

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and outer work is inner work,

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we get down to what is real

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and shit gets done.

NOTE Paragraph

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(Laughter)

NOTE Paragraph

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There is no limit
to what we can accomplish together.

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Thank you.

NOTE Paragraph

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(Applause)