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

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


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

68 thoughts on “Science didn’t understand my kids’ rare disease until I decided to study it | Sharon Terry”

  1. Even though she had to go through so much bullshit and pain, you can still see joy and pride in her eyes. You go girl.

  2. Gotta love all the "first" "second" and "third" comments…. Can someone summarize her point in the end? I didnt quite get it.. Im not a native speaker but my english.. Ok? I guess.. but I didnt quite understand it.

  3. 7 out of 10 diagnosis are wrong. Always push for my answers. For 3yrs my Dr. kept telling me I was 'overreacting' only to find out May 2016 I have Stage IV Advanced Ovarian Cancer. After a Hysterectomy, double mastectomy, 3in of intestine removed & 23 lymph nodes removed I'm still battling it. Had I pushed harder it could have been found sooner but I was dumb to believe the Dr. knew more than me.

  4. That is why medical research has to be moved from a competitive model to a cooperative model. And with the advent of CRISPR/CAS9 we're on the cusp of being able to cure a lot of chronic diseases.

  5. What she doesn't understand is that if there is no money in something it doesn't get research.

    USA may be capitalist but when communist world leaders need doctors that's where they go…and it's for a reason…

  6. My disabilities are in the rare/poorly researched category and some of the biggest improvements I've had with my health only came about because there's so much information/personal experience sharing online. It's sadly not something that can be shared with doctors because the information hasn't been collected in a study. The idea of creating a database that people give their offical medical history to would certainly change the game in how people are treated, I think it's something to really consider making the 'norm' and setting up.

  7. I hope people watch the actual TED talk instead of just reading the title. It's describing taking the scientific method into your own hands and doing good science. My fear is that science hating crazy people are going to read the title and then start believing in hippie irrational pseudo medicine. This talk is not like that. They did actual scientific research and learned from actual researchers. It's a story about how GOOD science can be more accessible, but it also entails hard work and dedication to literature and techniques.

  8. To all the people thinking "science couldn't diagnose them"

    You are all idiots, and the doctor knows best 90% of the time, and when they don't… then at least they know better then you.

  9. I don't know how I got cozy watching this beautiful Lady with that gorgeous outfit , may God bless you and your family . Hey🙋 who reading this Comment have a nice day❤.

  10. "Researchers don't share." Yes they do. When researchers publish a paper (also sharing), they are obligated to provide any biological tools they used in said paper to any colleagues who ask for it. If they don't, the journal can refuse to publish their future work. For rare diseases, the communities of people studying them are just very small.

  11. Good talk, but a misleading title. While it's definitely a big part of the discussion, "science" isn't really the issue, it's the industrialized and the "grant writing" paradigm for most research. Science is performed either because it allows the writing of an interesting grant proposal that has a fair/good chance of getting funded, or, because there is a specific problem that provides the avenue to profit for a corporation.Corporations play a part, national governments globally play a part, academia plays a part (especially the publish or perish part) The public also has some blame here as well, as either it decries most of science as lies/conspiracy, or simply abdicates all responsibility and takes no responsibility/interest in moving it forward (it's too hard, boring or "makes no difference")

    I wish I could remember who it was, but a prominent youtuber had a discussion about this whole thing as it pertains to science/research in general. I seem to vaguely recall it being Veritasium, but it could have been any of several.The crowd funding model, and the method discussed by Sharon represents a very positive step forward….

  12. But.. but natural selection. I know it sounds horrible, but wouldn't people passing on these genes be a negative consequence in a way?

  13. Indeed sharing of information among Medical Research Community is a must, at the same time Competition among research teams fosters ingenious ways to treatment. Streamlining and sharing findings will lead to aligning communities thoughts in a specific direction leaving them incapable of exploring new and radical ideas.

  14. This woman literally became a lab scientist and expert for her children. I am SHOOK. YES GIRL YOU GO

  15. Reminds me of the saying "a worried mother does better research than the FBI"
    In this case, mother and father. There is no limit and no stronger love when it comes to our children. We will move mountains

  16. For who get curious about the disease:
    It's PXE: pseudoxanthoma elasticum
    https://en.m.wikipedia.org/index.php?q=aHR0cHM6Ly9lbi5tLndpa2lwZWRpYS5vcmcvd2lraS9Qc2V1ZG94YW50aG9tYV9lbGFzdGljdW0

  17. This is common,;; money vs healthcare. Hospitals are for profit, pharm companies are the same. Competition money corrupts everything. We need a one insurance carrier health insurance. My husband is disgusted by medicine and he is a physician.

  18. Speaking as someone with a rare disorder (Multiple Osteochondroma) everything she is talking about is true. There is a really significant absence of information, and even when research has been done on a topic it is often very difficult to find and only one of my many doctors made any effort to figure it all out. I really, really hope that eventually information will be more freely shared and even rare diseases, even the 'unstoppable' genetic diseases, are eventually better understood than they are today.

  19. "Science didn't understand…" – Begins to describe how a dermatologist diagnosed, knew and told her all about the disease.

  20. People induce brain tumors and pass the results off as rare neurodegenerative diseases. It's nuts.

  21. "Psuedoxanthoma elasticum?" Oh, yeah. Even accounting for the name used being suppression if I ever saw it, this name is way out there.

  22. So random people are responsible for spearheading the most crucial elements of the research behind this stuff?

    This isn't Lorenzo's Oil. This isn't something rooted in truth that happened to become the basis of a movie.

  23. I have this same disease. I was diagnosed when I was 7. Now I am 15. I dont tie my hair up anymore because I got made fun of for it. Its been hard. But this makes me so happy that the public now knows how serious this is

  24. I am amazed – and given what I know of our system I tend to agree. Let's all work together, but let's all understand each others needs. Take cancer for instance – these days it's a fund raising event for sure – but what if we took the greater good to mean something more than patents or tenure? Imagine what could happen. But let's not forget the scientists and researchers that have dedicated themselves to the cause and figure out a "nobel prize" for their contributions. No one should make trillions from saving all of our children but everyone should be rewarded for our contributions.

  25. Can you help me i have hereditary ataxia (SPG7) me and my to brothers are suffering please advice us for help' my youngest took his life was in to much pain,

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