Sharon Terry: When Siblings Get A Rare Diagnosis, Can Their Parents Find the Cure? When Sharon Terry's two kids were diagnosed with a rare genetic disease, she and her husband didn't wait for the professionals to find the cure. They rolled up their sleeves and got to work.

Sharon Terry: When Siblings Get A Rare Diagnosis, Can Their Parents Find the Cure?

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When you think of the term citizen science, what do you - like, what does it mean to you?

SHARON TERRY: It's interesting because it's such a almost new term compared to our start 24 years ago. To me, it does mean people rallying themselves to do things that will change the face of science.

RAZ: This is Sharon Terry.

What's your professional background?

TERRY: My professional background is I have a master's in religious studies and was a college chaplain.

RAZ: And that was what you, I guess, planned to do with your life?

TERRY: Yeah. I pretty much thought I would probably stay in the counseling psychology, pastoral counseling kind of realm and do that for my life, yes.

RAZ: But you are not like a - you have no like sort of science credentials like - right?


RAZ: Right? OK.

TERRY: And I didn't take any biology. And I - as my husband was fond of saying, I didn't know a gene from a hubcap and neither did he (laughter).

RAZ: All right.

Twenty-five years ago, Sharon's life was pretty ordinary. She was married. Her husband ran a small construction company. And when her two kids came along, she decided to be a stay-at-home mom. And life was pretty good?

TERRY: Life was great. Life was, you know, typical, what one assumes life will be which is you have two little kids. They're healthy. They learn. They're curious. Life is wonderful.

RAZ: Tell me when and what you first started to notice about your kids.

TERRY: So it was quite difficult. I was at the birthday party of my niece when I noticed spots on the sides of my daughter's neck.

RAZ: What's your daughter's name?

TERRY: Elizabeth.

RAZ: Elizabeth.

TERRY: Yeah. And I started to be very curious about, if this was an allergy to laundry detergent or something, why weren't they all the way around her neck? Why were they increasing in number? Why did they look kind of strange and stay there all the time? And the kind of thing that the pediatrician says, you're being an overprotective mom, and the mom says, this just doesn't sit quite right with me. There's something going on here.

RAZ: Sharon Terry picks up the story from the TED stage.


TERRY: So it's two days before Christmas, 1994. I took Elizabeth to a dermatologist. 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. I am sick to my stomach. 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. It's a slowly progressing premature aging disease. It causes loose wrinkly skin in the flexor areas. It causes legal blindness and a host of cardiovascular problems. Questions mixed with fear and erupt like bile in my throat. What do you know about this? How do you know for sure? What is the prognosis? He then just glances at our son and says, he has it, too. We want to flee back to the land of normal.


RAZ: God, as a parent with two little kids...

TERRY: Yeah. It was completely overwhelming. And I was really trying to keep it together, obviously, for her and for Ian.

RAZ: Ian's your son?


RAZ: Do you remember calling your husband and telling him this?

TERRY: Yes. I remember calling Pat, my husband, and just pacing, pacing, pacing. And I remember really focusing on the skin problem more than anything else. Like, what are we going to do? Our two kids were going to have this wrinkly 90-year-old skin. What are we going to do? What are we going to do? And then I called our pediatrician right after that and said, this is the diagnosis, what does this mean? And unfortunately, all she had was an old Merck Manual. And she looked in it and said, oh, and the other thing he might not have told you is life expectancy is about 30 years old.

RAZ: Wow. So I'm assuming the first question you - when you were able to recover from the initial shock was, can this be treated?

TERRY: Sure. Because the other naivete I had was just write me the prescription and I'll go get the pill or the cream or whatever we need to do so that we get rid of this disease.

RAZ: What'd he say when you asked for the treatment?

TERRY: He said over and over, I don't know. We don't know. And what I also began to learn is that there's 7,000 rare diseases and most of them we don't know.

RAZ: So you're a parent with two small kids, 7 and 5 at the time, and you are told they have this condition and there's nothing you can do.

TERRY: Yeah. So as a parent, I actually can go straight back into that feeling right now, just a feeling of being sick and not knowing, how do we go forward? What do we do? How did we step across this line? Can't we go backwards? How can we wind the clock back?


TERRY: 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. 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. And it became quickly apparent within a month that there was no systematic effort to understand PXE. Researchers competed with each other because the ecosystem was designed to reward competition rather than to alleviate suffering. This moment more than any other lit a fire beneath my husband Pat and me.

RAZ: I can't imagine how infuriating it must have been to see scientists who were unwilling to collaborate even though it could have led to a breakthrough.

TERRY: It was crazy. It was like a first crack in the wall for us to look behind the wall and say, really? Really? This is human health and we're not going to share? We were just incredulous. So we drove back - we were living in Sharon, Mass. And we drove back to Worcester, Mass., where we had been and went to the medical center because it was public and could go in and comb through all the journals that were ancient in many cases. And I photocopied 400 articles and brought them home. I think in addition to the kick in the gut that our kids had this disease, we realized we're going to be alone. And if anything's going to get done for them, we were going to have to do it.

TERRY: In just a moment, how Sharon Terry became a citizen scientist to find the answers. I'm Guy Raz and you're listening to the TED Radio Hour from NPR.


RAZ: It's the TED Radio Hour from NPR. I'm Guy Raz. And on the show today - Citizen Science. And before the break, we were talking with Sharon Terry. She's a former college chaplain with no training in the fields of medicine or biology. But when her two children were diagnosed with a rare condition known as PXE, Sharon and her husband sprang into action.

So you and Pat went to a medical library and started to look up any and all things about this very rare disease. How did you even understand what you were reading?

TERRY: Yeah. It was so hard to understand. It was completely Greek to both of us. And so what we did is we went back to bookstores. We were in the Boston area, so we could go to, you know, MIT and Harvard's bookstores and buy various encyclopedias and medical dictionaries and start to learn the language...

RAZ: Wow.

TERRY: ...Because we realized that if we understood the gene and what it did, that we might be able to halt the disease or at least slow it down. And that would be good.

So the first thing we did was find more people with the disease and ask them if they would donate blood that we would control. So we would, essentially, be the holders of this resource and then ask the researchers to come to this well and only use it if they were going to share with each other.


TERRY: 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 hard core research.

So we borrowed bench space at a lab at Harvard. A wonderful neighbor came a couple of times a week and sat with the kids from 8 p.m. to 2 a.m. while Pat and I extracted DNA, ran and scored jells, and searched for the gene. Generous post-docs 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.


RAZ: You must have in a fairly short period of time, the two of you become leading experts on this disease.

TERRY: Yeah. I would say within a year, we were the leading experts on this disease.

RAZ: Wow.

TERRY: Yeah. And it's really not all that extraordinary because nobody was paying attention to the disease (laughter).

RAZ: But it is pretty extraordinary, Sharon. I mean, you guys actually found the PXE gene.

TERRY: Right.

RAZ: And I mean, it must've been like looking for a needle in a haystack.

TERRY: Yeah, absolutely. And we found it in collaboration with a number of scientific groups.

RAZ: How long did it take?

TERRY: It took us from when we started in 1995 until about 1999, the gene was discovered. Four years of working really, really hard. And four years of thinking once we found the gene, the next day, we would have the prescription and it would all be over.

RAZ: And?

TERRY: And it wasn't. I mean, here we are in 2017. And we have, this year, four treatments to try out. But it took all this time to get ready to even trial some things. But we started to also see patterns in the clinical presentation in the way the signs and symptoms exhibited themselves in people. And so that was very, very valuable to know how does this disease progress, how does it show up. Do people die at 30? No, they don't actually. Those sorts of things became important for us, personally, clearly, but also important for all the people with the disease.

RAZ: I know that you would disagree, but you and Pat are extraordinary. I mean, you went and jumped into this science and made a huge contribution to our understanding of this disease. But I mean, do you think anybody could have done what you did?

TERRY: So I think anybody can do this. Each of these 7,000 rare diseases is going to need a champion. And those champions have to be able to cut through all the red tape, figure out how to get resources that would be focused on that disease and actually stand on the shoulders of each other the way we've seen citizen science work in other areas.


TERRY: We joined with, and I eventually led, Genetic Alliance - a network of health advocacy, patient advocacy research and health organizations. We build scalable and extensible resources like bio banks 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.

Citizen scientists, activists, hacks who are using crowdsourcing do-it-yourself science are changing the game. Sure, it's really hard to discover and develop interventions and therapies. There's 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.

RAZ: What's interesting is that you - your process truly did respect the credentialed scientists. I mean, you went and read their work and then took their work and allowed it to guide you. So it's not like you were rejecting what they did and said. I know what I'm doing. I'm a citizen scientist. I mean, you needed those scientists.

TERRY: Right. And that's why even the term citizen scientist is funny to me. Although, I know now it's a popular term to describe what we did all those years ago. And what we continue to do is to say, yes, let's build on what already exists. Let's see what's credible and not credible. I'm not going to take it all and just swallow it. But I'm also going to contribute to it in a novel way.

I think that as somebody right now who has 140 peer reviewed papers, which is what I have, who has spoken all over the world in different forums - things like that - it's a kind of way that allows me without the kind of blinders that science often provides and has to provide - it allows me to see the bigger picture and to ask questions that they might not have asked.

RAZ: Yeah. I mean, it seems like what this allows for is a feeling of empowerment, especially when you feel disempowered by the circumstances you find yourself in.

TERRY: Yes. So you find yourself feeling disempowered, feeling like your feet have been knocked out from under you. And I think working with each other and seeing paths together and knowing that you can create new ones because somebody else did as well makes you very aware that you have the power. And I think that's the very biggest thing for citizen science overall is, I'm the expert. We're each the expert. And together, that many experts, we're really going to make a difference.

RAZ: Sharon Terry - she's the CEO of Genetic Alliance. It's an organization that tries to understand and treat rare genetic diseases. You can see her full talk at

And by the way, Ian and Elizabeth are now adults and both are married. Their disease is progressing. And there's still no cure. But Elizabeth recently took part in a clinical trial for a PXE treatment. And Ian is scheduled to take part in one later this year.

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