Science didn't understand my kids' rare disease until I decided to study it
-
0:00 - 0:04The best Christmas my children ever had
-
0:04 - 0:07was also the worst Christmas
my husband and I ever had. -
0:08 - 0:10Elizabeth, age seven,
-
0:10 - 0:12and her brother, Ian, age five,
-
0:13 - 0:16couldn't imagine why they were getting
everything they wanted for Christmas. -
0:17 - 0:20The reason Santa was so generous
-
0:21 - 0:24was because of something
my husband Pat and I knew -
0:24 - 0:26and the kids couldn't comprehend.
-
0:26 - 0:30Something that we had just learned,
and it terrified us. -
0:32 - 0:34This was 1994
-
0:34 - 0:36and the story actually starts
a few years earlier. -
0:37 - 0:42For a couple of years I had noticed
a rash on the sides of Elizabeth's neck -
0:42 - 0:44that looked like prickly heat.
-
0:45 - 0:49For those same years,
my father and brother both died of cancer, -
0:50 - 0:52and I was probably
overanxious about illness. -
0:53 - 0:56The doctors assured us
there was nothing wrong -
0:56 - 0:58and I shouldn't worry,
-
0:58 - 0:59but I wasn't so sure.
-
1:00 - 1:03And so without a referral,
and paying out-of-pocket, -
1:03 - 1:06I took Elizabeth to a dermatologist.
-
1:07 - 1:09She was probably
just allergic to something, -
1:09 - 1:13but why did it appear
just on the sides of her neck, this rash? -
1:15 - 1:17So it's two days before Christmas,
-
1:17 - 1:181994,
-
1:19 - 1:23and the dermatologist
takes a quick look at her neck and says, -
1:23 - 1:25"She has pseudoxanthoma elasticum."
-
1:26 - 1:29And then he shuts off the lights
and looks in her eyes. -
1:30 - 1:32It turns out, by chance,
-
1:32 - 1:35this dermatologist
also trained in ophthalmology. -
1:36 - 1:37Our lucky day.
-
1:39 - 1:41I am sick to my stomach.
-
1:42 - 1:43"Oma?"
-
1:43 - 1:46Oma's like melanoma, lymphoma --
-
1:46 - 1:47cancer.
-
1:48 - 1:52"Why are you looking
in her eyes for a skin rash?" -
1:52 - 1:54I scream and make no sound.
-
1:55 - 1:56So there it is.
-
1:57 - 2:00Elizabeth has pseudoxanthoma elasticum,
-
2:01 - 2:03PXE for short.
-
2:05 - 2:07Questions mix with fear
-
2:07 - 2:09and erupt like bile in my throat.
-
2:10 - 2:12Why are you looking in her eyes?
-
2:13 - 2:16What do you know about this?
How do you know for sure? -
2:16 - 2:17What is the prognosis?
-
2:18 - 2:22My training in pastoral counseling
did not prepare me for this. -
2:24 - 2:28Dr. Bercovitch tells us
everything he knows about PXE. -
2:29 - 2:31It's a rare genetic disorder,
-
2:32 - 2:33it's systemic,
-
2:34 - 2:38it's a slowly progressing,
premature aging disease. -
2:39 - 2:42It causes loose wrinkly skin
in the flexor areas. -
2:44 - 2:46It causes legal blindness,
-
2:46 - 2:47like macular degeneration,
-
2:48 - 2:51and a host of cardiovascular problems.
-
2:52 - 2:54Little is known about this disease,
-
2:55 - 2:57and some people die in their 30s,
-
2:57 - 3:00say some of the reports at the time.
-
3:01 - 3:04He then just glances at our son and says,
-
3:06 - 3:07"He has it, too."
-
3:09 - 3:14We want to flee
back to the land of normal. -
3:19 - 3:20Two days after Christmas,
-
3:20 - 3:23researchers come
from a university in Boston, -
3:23 - 3:26and they take blood
from us and our children -
3:26 - 3:29for a research project
focused on finding the gene. -
3:29 - 3:31A few days later,
-
3:31 - 3:33researchers come
from a medical center in New York -
3:33 - 3:35and say they want blood, too.
-
3:36 - 3:37"These are children.
-
3:38 - 3:40They're five and seven years old.
-
3:40 - 3:42Don't make them face the needle twice.
-
3:42 - 3:45Go and get your share
from the other researchers." -
3:46 - 3:49They laugh, incredulous.
-
3:49 - 3:50"Share?"
-
3:51 - 3:56It is then that we learn that there
is little sharing in biomedical research. -
3:57 - 3:59This moment, more than any other,
-
3:59 - 4:02lit a fire beneath my husband Pat and me.
-
4:04 - 4:06Pat and I went to a medical school library
-
4:06 - 4:09and we copied every article
we could find on PXE. -
4:10 - 4:12We didn't understand a thing.
-
4:13 - 4:16We bought medical dictionaries
and scientific textbooks -
4:16 - 4:18and read everything
we could get our hands on. -
4:19 - 4:20And though we still didn't understand,
-
4:20 - 4:22we could see patterns,
-
4:22 - 4:26and it became quickly
apparent within a month -
4:26 - 4:30that there was no systematic effort
to understand PXE. -
4:31 - 4:32In addition,
-
4:32 - 4:35the lack of sharing
that we experienced was pervasive. -
4:36 - 4:39Researchers competed with each other
-
4:40 - 4:44because the ecosystem
was designed to reward competition -
4:45 - 4:47rather than to alleviate suffering.
-
4:48 - 4:53We realized that we would have to do
work on this condition ourselves -
4:53 - 4:56to find solutions
for ourselves and others like us. -
4:58 - 5:00But we faced two major barriers.
-
5:00 - 5:01The first one:
-
5:01 - 5:04Pat and I have no science background.
-
5:05 - 5:08At the time, he's the manager
of a construction company, -
5:08 - 5:12and I'm a former college chaplain
stay-at-home mom -- -
5:12 - 5:16hardly the backgrounds
to take the research world by storm. -
5:17 - 5:19The second barrier:
-
5:20 - 5:22researchers don't share.
-
5:23 - 5:26People told us you can't herd cats.
-
5:27 - 5:30Well, yes you can if you move their food.
-
5:30 - 5:32(Laughter)
-
5:33 - 5:37(Applause)
-
5:37 - 5:40DNA and clinical data is the food.
-
5:41 - 5:44So we would collect blood
and medical histories, -
5:44 - 5:48and require that all scientists
using these resources -
5:48 - 5:51would share results with each other
and with the people who donated. -
5:53 - 5:55Well before the internet
was in common use, -
5:55 - 5:58Pat and I established PXE International,
-
5:58 - 6:03a nonprofit dedicated to initiating
research and conducting it on PXE -
6:03 - 6:07and also supporting
individuals with the disease. -
6:08 - 6:09Using traditional media,
-
6:09 - 6:14we garnered around
100-150 people around the world -
6:14 - 6:15who we asked,
-
6:15 - 6:18would you give us your blood,
your tissue, your medical histories, -
6:18 - 6:19your medical records?
-
6:20 - 6:22And we brought all of that together.
-
6:23 - 6:27We quickly learned that this shared
resource was not going to be enough. -
6:28 - 6:33And so we decided we had
to do hardcore bench science -- -
6:33 - 6:35hardcore research.
-
6:35 - 6:38So we borrowed bench space
at a lab at Harvard. -
6:38 - 6:41A wonderful neighbor
came a couple times a week -
6:41 - 6:45and sat with the kids from 8pm to 2am
-
6:45 - 6:47while Pat and I extracted DNA,
-
6:47 - 6:49ran and scored gels
-
6:49 - 6:50and searched for the gene.
-
6:51 - 6:54Generous postdocs
tutored us as we went along. -
6:55 - 6:57Within a few years, we found the gene.
-
6:57 - 7:00We patented it so that
it would be freely available. -
7:00 - 7:02We created a diagnostic test.
-
7:02 - 7:05We put together a research consortium.
-
7:06 - 7:09We held research meetings
and opened a center of excellence. -
7:09 - 7:15We found more than 4,000 people
around the world who had PXE, -
7:15 - 7:17and held patient meetings
-
7:17 - 7:19and did clinical trials and studies.
-
7:21 - 7:22Through all this,
-
7:22 - 7:24we lived with fear.
-
7:25 - 7:28Fear of the disease
breathing down our neck -
7:29 - 7:31while the clock ticked.
-
7:31 - 7:33Fear of researchers,
-
7:34 - 7:38so well credentialed and positioned
in a world made for them. -
7:39 - 7:41Fear that we were making
the wrong choices. -
7:42 - 7:45Fear that the naysayers were right
-
7:45 - 7:48and the cats would simply find a new food.
-
7:49 - 7:52But greater than all these fears
was our drive to make a difference -
7:52 - 7:55for our kids and for all those
we had met along the way. -
7:56 - 7:57And very quickly,
-
7:58 - 8:00we also realized what we
were doing for one disease, -
8:00 - 8:02we should do for all diseases.
-
8:04 - 8:06We joined with, and I eventually led,
-
8:06 - 8:07Genetic Alliance --
-
8:07 - 8:10a network of health advocacy,
-
8:10 - 8:11patient advocacy,
-
8:11 - 8:12research and health organizations.
-
8:13 - 8:16We built scalable
and extensible resources, -
8:16 - 8:18like biobanks and registries
and directories of support -
8:18 - 8:20for all diseases.
-
8:21 - 8:25And as I learned about all those diseases
and all those disease communities, -
8:25 - 8:28I realized that there were
two secrets in health care -
8:28 - 8:30that were impacting me greatly.
-
8:30 - 8:32The first:
-
8:32 - 8:35there are no ready answers
for people like my kids -
8:35 - 8:37or all the people I was working with,
-
8:37 - 8:39whether common or rare conditions.
-
8:40 - 8:41And the second secret:
-
8:42 - 8:46the answers lie in all of us together,
-
8:46 - 8:47donating our data,
-
8:48 - 8:51our biological samples
-
8:51 - 8:52and ultimately ourselves.
-
8:54 - 8:58There is a small
groundswell of individuals -
8:58 - 9:00who are working to change this.
-
9:00 - 9:03Citizen scientists, activists, hacks
-
9:03 - 9:06who are using crowdsourcing,
do-it-yourself science -
9:06 - 9:08are changing the game.
-
9:09 - 9:12Even President Obama
and Vice President Biden -
9:13 - 9:14are evangelists for the idea
-
9:14 - 9:17that people should be
partners in research. -
9:18 - 9:20This is a founding principle
of our organization. -
9:21 - 9:23Sure, it's really hard
-
9:23 - 9:26to discover and develop
interventions and therapies. -
9:27 - 9:30The science is hard,
-
9:30 - 9:32the regulatory regime is difficult.
-
9:33 - 9:36There are a lot of stakeholders
with lots of interests -
9:36 - 9:40and misaligned incentives
like publishing, promotion and tenure. -
9:41 - 9:45I don't fault scientists
for following this path, -
9:45 - 9:48but I challenge them and us
to do this differently. -
9:48 - 9:52To recognize that people
are at the center. -
9:53 - 9:55Genetic Alliance has experimented
-
9:55 - 9:59in what it will take
to transform these crusty systems. -
10:01 - 10:03Our goal is to work without boundaries.
-
10:04 - 10:07That sounds abstract,
but for us it's quite practical. -
10:09 - 10:13When we're frustrated
that entities won't share data -- -
10:13 - 10:18data that comes from people who gave
their energy, their time, their blood -
10:18 - 10:20and even their tears --
-
10:21 - 10:22we need to stop and ask,
-
10:22 - 10:25"How is it true that we
could share, but we aren't?" -
10:26 - 10:27We're part of this system, too.
-
10:30 - 10:35How do we make it
so that people can share ideas freely? -
10:35 - 10:40So that people can take risks
and move closer to one another? -
10:41 - 10:45This leads to a dissolving
of us versus them, -
10:45 - 10:48not only for organizations
but also for individuals. -
10:49 - 10:52If I'm going to ask
organizations or individuals -
10:52 - 10:54to strive for these standards,
-
10:54 - 10:59then I too need to explore
my own being and my practices. -
11:00 - 11:03If I'm going to ask clinicians
and researchers and administrators -
11:03 - 11:05to take risks,
-
11:05 - 11:08then I, Sharon,
need to take risks as well. -
11:09 - 11:12I need to face my personal fears.
-
11:13 - 11:16My fear of not having enough impact.
-
11:17 - 11:20My fear of not leading well.
-
11:21 - 11:24My fear of not being enough.
-
11:27 - 11:31Just before they entered their teens,
our kids stopped us in our tracks -
11:31 - 11:34and said, "You have to stop worrying
about making a difference, -
11:34 - 11:36making an impact,
-
11:36 - 11:40and instead, like us,
learn to live with disease -
11:40 - 11:42rather than fight it."
-
11:45 - 11:46I have to ask,
-
11:46 - 11:48where does all my fear come from?
-
11:49 - 11:53The kids' declaration
shines a spotlight on that fear. -
11:54 - 11:57It arises from a bedrock of love.
-
11:58 - 12:00I love Elizabeth and Ian.
-
12:02 - 12:04I love people with PXE.
-
12:06 - 12:08I love people with any disease.
-
12:09 - 12:10I love people.
-
12:13 - 12:17Some of my colleagues have discovered
that it is not death we fear, -
12:17 - 12:19it is the enormity of our loving.
-
12:21 - 12:26This expansive love opens me to great pain
-
12:26 - 12:27as I face loss.
-
12:29 - 12:31As I discover my fear,
-
12:32 - 12:34I discover that I
-
12:34 - 12:36and all those around me
-
12:36 - 12:38have boundless capacity for love.
-
12:42 - 12:43And I also discover
-
12:44 - 12:46as I move into this fear,
-
12:47 - 12:50that I can learn many new things
-
12:50 - 12:51and find paths
-
12:52 - 12:56to things like practical solutions
-
12:56 - 12:59as well as the core of healing and health.
-
13:03 - 13:07I don't fear fear the way I used to.
-
13:09 - 13:14In fact lately, with enormous support
from all my fellow journeyers, -
13:14 - 13:17I notice that it's not a warning
the way it used to be. -
13:18 - 13:21I notice that instead,
-
13:21 - 13:23it's an invitation to go forward
-
13:23 - 13:26because in it lies love
and the path to greater love. -
13:28 - 13:31If I turn with gentle curiosity
toward that fear, -
13:33 - 13:38I find enormous wealth
within myself and others -
13:38 - 13:41and the ability to step into challenges
that I never thought I could. -
13:43 - 13:45My kids are ahead of me
on that path still. -
13:46 - 13:48At ages 29 and 27,
-
13:48 - 13:51they declare they are happy and healthy
-
13:51 - 13:56despite having manifestations of PXE
in their skin and eyes and arteries. -
13:57 - 14:00And so I invite you, us, we,
-
14:01 - 14:02to turn toward our fear;
-
14:02 - 14:05to embrace the things that scare us
-
14:05 - 14:07and find the love at the center.
-
14:07 - 14:09We'll not only find ourselves there
-
14:09 - 14:13but we'll also be able
to step into the shoes of those we fear -
14:13 - 14:15and those who fear us.
-
14:15 - 14:18If we breathe into that fear
-
14:19 - 14:23and are vulnerable with the systems
and people who challenge us, -
14:23 - 14:27our power as changemakers
grows exponentially. -
14:28 - 14:30And when we realize
-
14:30 - 14:33that working on our inner life
is working on our outer life -
14:33 - 14:36and outer work is inner work,
-
14:36 - 14:38we get down to what is real
-
14:38 - 14:40and shit gets done.
-
14:40 - 14:41(Laughter)
-
14:41 - 14:45There is no limit
to what we can accomplish together. -
14:45 - 14:46Thank you.
-
14:46 - 14:49(Applause)
- Title:
- Science didn't understand my kids' rare disease until I decided to study it
- Speaker:
- Sharon Terry
- Description:
-
Meet Sharon Terry, a former college chaplain and stay-at-home mom who took the medical research world by storm when her two young children were diagnosed with a rare disease known as pseudoxanthoma elasticum (PXE). In this knockout talk, Terry explains how she and her husband became citizen scientists, working midnight shifts at the lab to find the gene behind PXE and establishing mandates that require researchers to share biological samples and work together.
- Video Language:
- English
- Team:
- closed TED
- Project:
- TEDTalks
- Duration:
- 15:02
Brian Greene edited English subtitles for Science didn't understand my kids' rare disease until I decided to study it | ||
Brian Greene edited English subtitles for Science didn't understand my kids' rare disease until I decided to study it | ||
Brian Greene approved English subtitles for Science didn't understand my kids' rare disease until I decided to study it | ||
Brian Greene edited English subtitles for Science didn't understand my kids' rare disease until I decided to study it | ||
Joanna Pietrulewicz accepted English subtitles for Science didn't understand my kids' rare disease until I decided to study it | ||
Joanna Pietrulewicz edited English subtitles for Science didn't understand my kids' rare disease until I decided to study it | ||
Joanna Pietrulewicz edited English subtitles for Science didn't understand my kids' rare disease until I decided to study it | ||
Leslie Gauthier edited English subtitles for Science didn't understand my kids' rare disease until I decided to study it |