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The Promise In Unraveling The Mysteries Of Rare Diseases


This is TALK OF THE NATION. I'm Neal Conan in Washington. When Jeannie Peeper was born, she had 10 fingers, 10 toes, everything her parents expected, except her big toes were short and crooked. Later a bump appeared on the back of her head, then disappeared. Baby Jeannie couldn't open her mouth as wide as her siblings, either.

When her parents took her to a doctor, she was diagnosed with a rare bone condition. A second skeleton would grow inside her body and eventually lock her into stillness. Doctors didn't think she'd live to be a teenager and couldn't do much besides suggesting Tylenol.

In a piece in The Atlantic, Carl Zimmer writes: Rare diseases frequently go undiagnosed or misdiagnosed for years. Once people do find out they suffer from a rare disease, many discover medicine can't help them. Not only is there no drug to prescribe, but in many cases scientists have little idea of the underlying cause of the disease.

In Jeannie Peeper's case, that's changed. If you suffer from a rare disease, tell us what's going on with the research into it today. Our phone number, 800-989-8255. Email us, talk@npr.org. You can also join the conversation on our website. That's at npr.org. Click on TALK OF THE NATION.

Later in the program, recovering child actor Mara Wilson on the perils of fame, wealth and adulation. But we begin with Carl Zimmer, a science writer for the New York Times and a contributing editor at Discover magazine. His piece, "The Girl Who Turned to Bone," is in The Atlantic magazine this month. He joins us from a studio at Yale University. And nice to have you back on TALK OF THE NATION.

CARL ZIMMER: Thanks for having me.

CONAN: And your point I think is that research on a rare disease doesn't just benefit the small population who suffer from that disease.

ZIMMER: That's right because often what happens with rare diseases is that there's some sort of mutation to a gene involved. And it may surprise people to learn that scientists often don't quite know exactly what all the genes in our genome actually do. And so these rare diseases can often be kind of a natural experiment that shows you some clues about what that gene does. And they can use that knowledge to treat much more common diseases.

CONAN: Give us an example.

ZIMMER: Well, there's a very rare disease called Tangier Disease, which was first discovered because some people had orange tonsils. And so some doctors said, well, that's weird. And when they investigated it, it turned out that these people had a mutation in a gene that was involved in how they process cholesterol. And so actually their tonsils were building up huge amounts of cholesterol, and they were turning orange.

This is incredibly rare. Maybe a few hundred people in the world have it. And yet by studying that gene that gets mutated, scientists are actually stating to develop some potential treatments for heart disease, which affects many millions of people.

CONAN: So that is the link between - that's really the answer to someone who says wait a minute, there's millions of people dying from heart disease, we need more research to that, or malaria or AIDS or whatever.

ZIMMER: Yeah, I mean, I think we just hope that people will just go after these very common diseases and somehow magically find a cure. Unfortunately our biology is just really complex, and sometimes treatments for these common diseases come from very unexpected places. And so rare diseases can sometimes be useful in that way.

Of course this is all beside the point for a person who actually has a rare disease and is really hoping for a cure, and so there's obviously a huge benefit to actually prompting scientists, incentivizing scientists to study these rare diseases just for those people.

CONAN: Well, let's talk with one of them now. Jeannie Peeper has a rare skeletal disorder known as fibrodysplasia ossificans progressiva, or FOP. She's the founder and president of the International FOP Association, now celebrating its 25th year, and joins us now from member station UCF in Orlando. Welcome to TALK OF THE NATION.

JEANNIE PEEPER: Thank you, good afternoon, Neal and Carl.

CONAN: And I wonder: Are you hoping for a cure for FOP?

PEEPER: We certainly are, and we hope that that time will come soon, as we get closer to clinical trials.

CONAN: Clinical trials of what?

PEEPER: At this point that's still - they're still working on that until there as has been a certain point at which clinical trials will begin. But we are all very hopeful that that will be in the very near future.

CONAN: OK. You are now 54 years old. As we suggested in the introductions, doctors did not think you would live past your teens. What is life like for you?

PEEPER: Well, at this point all of my joints are locked in a fixed position, including my jaws, except for my right wrist. I'm in a motorized wheelchair and need full assistance with my daily care. I'm very active in the organization and have a very busy lifestyle.

CONAN: When did you become aware that you had this condition or some terrible condition?

PEEPER: I was about eight when I woke up one morning and was unable to put my dress sleeve on. My left wrist had locked in a backward position. And I went in and asked my mom, you know, what was wrong, I couldn't move my wrist. And from there we started, you know, seeing more physicians, and they did a biopsy. And so that was when I first knew that there was something that was different.

CONAN: And how has it - I'm not sure, forgive me even for asking this question - how has it changed your life?

PEEPER: Well, it has changed my life because at certain points during my life the progression of the disease gets worse. And so, you know, there was a point in time where I was able to dress myself and drive, and I'm no longer able to do those things. So you adjust and adapt differently on how to do different things in your daily life.

CONAN: And you must have thought as a child you were alone, the only person in the world who had this.

ZIMMER: Yes, I never thought that there was anyone else, never looked to think - you know, to look for anyone else with this condition. I just thought I was the only one.

CONAN: And let's bring Carl Zimmer back into the conversation. That is where the Internet comes in.

ZIMMER: Well, before the Internet, actually, Jeannie Peeper comes in, I mean, because what happened is that Jeannie was put in touch with a few other people with this disorder. You have to remember one in two million people have this disorder. So that's maybe about - maybe a couple hundred people in the whole United States.

And so even before the Internet, Jeannie set up a newsletter and actually got in touch with people and started sharing information and immediately got the idea that they could raise funds to support research. Only later in the 1990s did they set up a website and set up a Facebook page, and that really accelerated the process of bringing people together and then allowing them to share ideas about how to take care of their condition, and then also to support research and even participate in research.

And so the Internet has had this crucial role in accelerating what people like Jeannie Peeper actually began.

CONAN: And that is crucial. You think a disease, one in two million, how do people with this condition generate money for research?

ZIMMER: Well, I mean, Jeannie would probably be the good person to talk about the specific example of FOP, but certainly, you know, rare disease communities find all sorts of different ways to do it. They may do bake sales, they may have fish fries, or there might be a philanthropist who perhaps has a family member who has this disorder. It - the money comes from all sorts of places.

But, you know, very much it's a case of people with the disease and their families raising that money because the whole funding system for disease research ends up neglecting rare diseases not because anyone has an indifference to people with this condition, but, you know, GOP is 100,000 times rarer than diabetes. So where do you put your funds?

CONAN: And that's a question, Jeannie Peeper, that I'm sure many people have asked you.

PEEPER: Yes, sir. We are a very unique, grassroots organization that all of our money comes from the FOP families that work very, very hard to raise the funding to support the FOP Lab at the University of Pennsylvania.

CONAN: The FOP Lab at the University of Pennsylvania, there's an entire laboratory dedicated to research on this disease now?

PEEPER: Yes, sir, there is. We've been funding it for more than 20 years.

CONAN: And Carl Zimmer, that also requires researchers interested in looking into this disease.

ZIMMER: That's right, and researching a disease like FOP is really hard. It challenges you because there's so few people to study. If a scientist wants to study say for example breast cancer, unfortunately there are lots and lots of women to study. It's a much more common disorder.

But when there only a couple hundred people in the whole country, You really are challenged, and so part of what the scientists at the University of Pennsylvania have done is they have done basic research. They've looked at animals, like flies and mice and zebra fish, to find clues to how this disease works because it involves genes that we share with other animals.

CONAN: Let's get some callers in on the conversation. We want to hear from those of you who also have rare diseases. Where does research stand into your condition? 800-989-8255. Email talk@npr.org. And let's go to Susan(ph), and Susan's with us from Mililani in Hawaii.

SUSAN: Hi, I have an autoimmune condition called sarcoidosis. And I have it manifested neurologically. It - I had an 18-month odyssey back in 2007 where I was having all these symptoms, and it finally got diagnosed with brain surgery, because it showed up as tumors on an MRI. And then when they finally diagnosed it, they said oh no, you don't have cancer, which is what they thought it was.

I ended up going back to doctors I had seen at UC - University of California San Francisco, because nobody here in Hawaii had expertise to treat it. They didn't quite know what to do. It - I'm currently in a study at the University of California San Francisco, and they're using some of the funding to study TB because there's some relationship with how this disease manifests.

It forms granulomas, immune fighting cells, that cluster in the body, and that's where it does damage. And the other thing is I'm having to fight the insurance company because I'm taking a biologic drug, which is an infusion, and that seems to be working. I've been fairly stable since my brain surgery in 2009, but the problem is the medication costs $25,000 a year to take, and it's an off-label use.

When you're using off FDA label, that's considered experimental. But I've been fortunate that I've been able to fight the insurance company. But anyway, the point, I guess what you're more interested in, is the study that I'm in, they're sort of writing, studying TB to find out - and they're, you know, using that to study this disease.

CONAN: Well, Susan, we - thanks very much for the call. We wish you the best of luck.

SUSAN: OK, thank you.

CONAN: If you suffer from a rare disease, we want to hear from you, too. How's the research going? 800-989-8255. Email us, talk@npr.org. Stay with us. I'm Neal Conan. It's the TALK OF THE NATION from NPR News.


CONAN: This is TALK OF THE NATION, from NPR News. I'm Neal Conan. Big-time diseases - cancer, diabetes - get a lot of press and a significant fraction of research dollars. Doctors generally know how to diagnose them, and treatments - while imperfect in many cases - are at least available. But for people with rare diseases, the experience can be quite different. Often even getting a diagnosis is difficult. And once doctors zero in on one, drugs and therapies may not exist if the disease is especially unusual. And researchers who want to help can have a hard time doing so without a large population to study.

So if you suffer from a rare disease, call. Tell us what's going on with your research today. 800-989-8255. Email us: talk@npr.org. You can also chime in on our website. That's at npr.org. Click on TALK OF THE NATION.

Our guests are Carl Zimmer and Jeannie Peeper. Carl wrote about rare diseases for The Atlantic, and he profiled Jeannie, who has a rare disorder known as FOP. And Jeannie, your group does a great deal more than just raise funds for research, important as that is. There are many practical issues that you can all help each other out with.

PEEPER: Yes, we have a Facebook page. We have a private email group that allows people to communicate, to help answer daily living skills so that people are not reinventing the wheel. We have a life award to help our members, and we have had some gatherings that allow us the opportunity to meet. Because we are such a unique group, we're very a close-knit group. So we enjoy the opportunity to be able to meet families for the first time.

CONAN: I wonder, Carl Zimmer, what led you to Jeannie Peeper and FOP?

ZIMMER: Actually, I remember quite clearly. In Philadelphia, there's a museum called the Mutter Museum. It's a medical museum, and it has a number of specimens there. And a number of years ago, when I went there, I walked over to a corner glass case and was totally captivated by a skeleton.

It was the skeleton of a man named Harry Eastlack, who died in the 1970s. And on the legends, I read about his condition. He had this disease I'd never heard of called FOP, fibrodysplasia ossificans progressiva, and he had wanted his body to go to science to help, perhaps, to find a cure for this condition. And the legend explained that no one really knew what caused it.

And I actually went back there to the museum. I happened to be in town, and it's a wonderful museum. So I went back there, and there I saw it again. And I said, you know, I want to find out about this, because it's - looking at the skeleton, it's quite an emotional experience, I mean, because you see these bones that are totally new bones that are forming around someone's skeleton.

And you wonder: What is it like to have that condition, to be just a handful of people in the world to have it? And how could this possibly happen? You have to remember that, you know, we develop bones as embryos, and then afterwards, the bones keep growing, but you don't make a new bone, or you don't grow another skull or another arm bone. But these people grow new bones.

And so that sort of set me off on this journey, on which I met Jeannie Peeper, I met the scientists who were trying to help, and it's been an amazing experience.

CONAN: There are conditions, though, that other people have where you might want to generate some new bones.

ZIMMER: Absolutely. Actually, very common conditions, like osteoporosis. Millions of people in the United States suffer from massive bone loss. And so you might want to look at what's going on with people who have FOP. How does this little mutation switch on bone growth in this dramatic way? Could you possibly harness that power to help people with osteoporosis?

So that's actually one of the possibilities that scientists at the University of Pennsylvania and elsewhere are looking into as they better understand what causes FOP.

CONAN: And Jeannie Peeper, I wanted to ask you, there were a couple of researchers who spent years working on this, and as Carl Zimmer suggests, they did uncover a gene that is believed to be responsible here. I wonder: Once you understood for the first time, how did you find out about that?

PEEPER: I actually got a call from Dr. Kaplan from the University of Pennsylvania that said he wanted me to come to Pennsylvania for the press release, that the FOP gene had been discovered. And that was in April of 2006. And it was truly the greatest gift I've ever received, to know that the gene has been discovered in my lifetime.

And with the gene discovery, it lays out the landscape for many other researchers that are now onboard throughout the world to develop a treatment and a cure for FOP.

CONAN: Let's get another caller on the line, on the conversation, Lina(ph). Lina joins us from Cleveland.

LINA: Hi. How are you?

CONAN: I'm well. Thank you.

LINA: Good. I'm actually calling - my family is afflicted with a bit more well-known, but not as researched as it should be, is Lou Gehrig's disease, or ALS. On one side of my family, we've been afflicted with genetic Lou Gehrig's, and on the other side, oddly enough, we have had sporadic Lou Gehrig's.

In my lifetime, three members of my family have passed from it. But before that, many other members passed, as well. The first in my lifetime was my grandmother, who passed away about 14 years ago. And at the time, there wasn't any sort of medication. There was nothing, you know, Lou Gehrig's at this point in time is, you know, it's a sentence to death.

And although they have somewhat recently found the gene, as well, there still really isn't that research being done in order to help, or any awareness of what it does, what it can do and the harms that only people that suffer it, but their family members go through.

CONAN: I'm sorry to hear the situation with your family, and that must be awful and awful to live with, and wonder when or if you're going to come down with Lou Gehrig's disease.

LINA: Correct, correct. And like I said, there is, at this point in time, a gene that can be discovered, or you can be tested for. But even without the gene test, you do know that if your immediate mother mo yohere is at this pont

CONAN: We wish you the best of luck, and thanks again for the phone call.

LINA: All right. Thank you.

CONAN: Carl Zimmer, I think most of us - I guess partly because of Lou Gehrig - have heard of Lou Gehrig's disease. What qualifies as a rare disease?

ZIMMER: Well, the National Institutes of Health defines a rare disease as affecting less than 200,000 Americans. As I mentioned, FOP affects perhaps a couple hundred Americans. But, you know, the fact is that there are a whole lot of diseases that qualify under that definition, and so there are over 7,000 rare diseases that have been identified. And they actually, if you add them all up, they affect 30 million people.

So rare diseases in aggregate actually are a very common disease, and they're actually becoming all the more common the more that scientists study them, because now you can - it's much easier now to identify genes that have mutations in them, and so you can start to discover entirely new rare diseases. In some cases, you might have a mutation that affects one person, and it's never been seen before. So the world of rare diseases is just getting bigger and bigger.

CONAN: Let's go next to Robin, and Robin's on the line with us from Phoenix.

ROBIN: Yeah, hi. I actually worked for a company here in Phoenix called TGen, the Translational Genomics Research Institute. And so what we're actually doing is using the whole genome sequence and actually looking at an entire DNA blueprint to try to find what's causing the rare disorder. And so for one such case, we have a new center for rare childhood disorders.

And we had a little girl named Shelby. So for 10 years, she was on kind of a similar diagnostic odyssey to - like what many of your callers are talking about. So she couldn't walk. She couldn't talk. Her parents took her everywhere. And we were actually able to sequence her entire genome, so looking at all three billion letters, and figured out what the change was that was causing that.

And it's - there's no name for it. You know, probably the only one with this exact mutation. But it was an issue with dopamine receptors. And so once we had that information, we were able to use medicine that had been developed and tested with Parkinson's patients. And so we're able to give her that medication. And now two years later, she's walking. She's talking, dancing around, and it's really made a big difference.

And what we've really seen in at least rare disorders of kids is that with - where we're going with genetic testing, that we're able to find these changes and sometimes these drugs that are already pre-approved to help.

CONAN: Robin, let me ask you a question, and I don't mean to sound insensitive: How do you make money doing this?


ROBIN: We're a nonprofit organization, so about one-third of our funding comes from philanthropy, so generous donors that are interested in the type of research that we're doing. About one-third comes from, you know, NIH grants that our scientists write. And then about one-third comes from contracts. So different hospitals and private entities will actually contract with us. They pay us to provide this service and information to them.

CONAN: Carl Zimmer, are there incentives for companies like Robin's to investigate rare diseases?

ZIMMER: Actually, there are increasingly incentives. The government is actually setting up some programs. The NIH is setting up something called Therapeutics for Rare and Neglected Diseases, which is helping to encourage the basic research by scientists into this. And then they're finding ways to encourage pharmaceutical companies to get involved and carry the ball forward.

One of the big challenges with these kinds of drugs is that when you got a rare disease, by definition, there aren't a lot of people to study. And yet clinical trials typically need lots of people in them in order to be sure that the medicine is working effectively and safely. So the FDA and others are coming up with ways of tailoring trials for these small groups of people.

And the fact is that, ironically, pharmaceutical companies can do pretty well with medicines for rare diseases. Some of these rare disease drugs are - they cost a lot of money, but, you know, insurance companies in some cases are willing to cover for them because the cost of just medical care for people as they're declining is so much more expensive. So things are looking a bit brighter than in the past on the drug discovery end of things.

CONAN: Robin, thanks very much for the call.

ROBIN: Thank you.

CONAN: Here's an email that we have from Ronda(ph) in New Braunfels in Texas: After a lengthy hospital stay, I was diagnosed with Wegener's granulomatosis - I hope I got that right - an autoimmune disease fatal until the 1970s when researchers found it could be treated with chemotherapy. Even now, it is still fatal, often debilitating, for many people. When I was first diagnosed, I was relieved that I didn't have lymphoma, but I quickly changed my mind and found myself almost wishing I had cancer or some other well-researched disease. I also grew resentful of every walk for the cure or similar benefit to fund research for more prevalent diseases since it seems nothing is being done on the WG front. At the same time, I had trouble getting my chemo drugs covered. I ended up paying a large amount of money for treatments that my insurance company would have covered if I had been diagnosed with cancer.

We're talking about rare diseases today. You're listening to TALK OF THE NATION from NPR News.

Jeannie Peeper, let me ask you. You had FOP, a very rare disease. Just about that Ronda was talking about, you would be less than human if you didn't feel somewhat resentful of all the pink bracelets.

PEEPER: Yes, sir. I think that knowing that you have a condition that is so rare and there is no treatment, it is very disheartening, and you wonder where all the money is going, you know, to cancer and other diseases, and, you know, the money isn't being spread around to help other disorders.

CONAN: Why not me?

PEEPER: Right.

CONAN: Let's go to Colleen(ph), and Colleen's on the line with us from Jackson, Wyoming.


CONAN: Hi. You're on the air. Go ahead, please.

COLLEEN: I have something called multifocal motor neuropathy, which is a progressive degenerative motor nerve disease thought to be autoimmune, but it's pretty rare. They don't know much about it. A lot of people with it are helped with immunoglobulin, regular immunoglobulin infusions, which helps with the symptoms, but they don't even know what causes it or the mechanism of damage. So there's no cure for it.

CONAN: So there's treatment, but they don't even know why it works.

COLLEEN: Exactly. And like you were saying about the difficulty of getting a diagnosis, most people with this go through a circuitous, years-long process to finally getting diagnosed. Most of us are told we have ALS first, Lou Gehrig's disease, because they appear very similar, and there's no test that can confirm it. A lot of times the test is to give them this infusion and see if they get better.

And up until a couple of years ago, there wasn't even anywhere online of a group of people with it to talk to each other, so everybody felt very isolated. So...

CONAN: But there is a group now?

COLLEEN: There's a couple of Facebook groups, and I started an online forum, which is easily found on Google, a year-and-a-half ago, and I've got 200 registered members now. I just wish there's a little bit of research, I guess. We pay close attention to what's going on in the general autoimmune area and also ALS because, hopefully, any progress there will apply to us someday...


COLLEEN: ...but there - there's just not a lot at the moment. And I just wish that, like researchers, if they're having trouble finding test subjects - you know, I don't know if they're lurking on our groups or just ignoring us, but it would be nice if they pay a little attention. I do have one friend who got an experimental stem cell transplant. We're waiting to see if that helps him.

CONAN: Well, we wish your friend and you and all who suffer from that condition the best of luck. Thank you very much for the call.

COLLEEN: Oh, thank you.

CONAN: Colleen raises an interesting point, Jeannie Peeper. It's not just tips on how to get through life. It's not just fundraising for research. There must be an awful lot of community in knowing the others who have your disease, FOP.

PEEPER: Yes, it is very satisfying to know that you know that there are others out there. We have approximately 500 members in more than 50 countries around the world. And so with the help of the Internet, it gives us the ability to, you know, be in touch and communicate. And as she was saying, you know, with a rare condition, it is - you are always misdiagnosed. FOP has a rate of about 80 percent for misdiagnosis. Many times, it's misdiagnosed as cancer. And we're certainly hoping to change that with our awareness and, you know, make a difference there.

CONAN: Well, Jeannie, thank you so much for coming in today. We know that wasn't easy, and we appreciate your time. Good luck.

PEEPER: OK. Thank you very much.

CONAN: And, Carl Zimmer, we appreciate your time today as well, and nice piece.

ZIMMER: Thank you very much.

CONAN: Carl Zimmer writes about science regularly for The New York Times and Discover magazine. He's a contributing editor and columnist there. His piece in this month's edition of The Atlantic is called "The Girl Who Turned to Bone." You can find a link to it on our website. He joined us from a studio at Yale. Jeannie Peeper joined us from WUCF in Orlando. She's founder and president of the International FOP Association, now celebrating its 25th year.

When we come back, the star of "Matilda" and "Miracle on 34th Street" joins us to pull back the curtain on why it's so hard to go from successful child actress to successful adult. Stay with us. It's the TALK OF THE NATION from NPR News. Transcript provided by NPR, Copyright NPR.