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CNN Cover Story

Aired September 19, 2010 - 19:30   ET



DON LEMON, CNN ANCHOR (voice-over): This is the CNN COVER STORY. You're looking at a place few have heard of. Inside that building is a place of hope for a chosen few. Their last hope.

DR. SANJAY GUPTA, CNN CHIEF MEDICAL CORRESPONDENT: Some of the patients you see here are some of the most mysterious in the country. They've been all over the place. Nobody's been able to diagnose this.

UNIDENTIFIED FEMALE: I took that disclaimer and I heard it. And I still quest a strong dose of hope.

LEMON: A team of some of the best minds in medicine.

GUPTA: You like to solve puzzles? Were you a puzzle solver when you were younger?

LEMON: Who are determined despite the odds.

DR. WILLIAM GAHL, UNDIAGNOSED DISEASE PROGRAM: We expect failure. We expect a high failure rate. We expect a success rate of perhaps 10, 15 percent or so.

LEMON: To break new ground, to solve mysteries that no other doctors could solved.

UNIDENTIFIED MALE: A lot of unanswered questions.

LEMON: For the sake of science and for the sake of their patients.

Tonight on the CNN "Cover Story," Dr. Sanjay Gupta and the "AC 360" team take us inside this singular program in America as they follow the doctor detectives.


LEMON: Welcome to the "CNN Cover Story." I'm Don Lemon. Everyone you're going to meet in the next half hour is working against the odds. Every doctor against the odds, every patient, but not everybody you meet on this COVER STORY will let the odds dictate their next move.

Joining me tonight is our chief medical correspondent, Dr. Sanjay Gupta. Sanjay, there are a lot of great people in the medical field who you could call doctor detectives, but this place where you and the "AC 360" team spent so much time is different. Take us behind the scenes and tell us what is so striking about the undiagnosed diseases program.

GUPTA: I heard about this before I got a chance to go there. You know, the scenario is this. You're a patient. You have some sort of medical malady. You've been everywhere and no one can figure it out. You keep hearing the same thing. We just don't know. Or I've never seen this before. So I really wanted to see how a place would start to put the various pieces of the puzzle together. Where they would look, and sometimes in non obvious places and then ultimately, how often would they succeed.

It was an amazing thing. Dr. William Gahl is the guy that runs this place. And the way he sort of just approaches patients is different than anything I've seen. Take a look.


GUPTA (voice-over): Bethesda, Maryland. Deep inside the sprawling NIH complex, Dr. William Gahl leads an elite team of doctors, specialists and researchers. They are the best in the world. Together, they focus their vast expertise to try to save patients' lives. They are detectives in search of clues to solve mysteries no other doctors could solve.

(on camera): You're talking about patients who have been seen by some of the best in the country here. They're very good clinicians and diagnostic doctors everywhere. So you're taking the hardest, the most challenging cases of all.

GAHL: We expect a failure. We expect a high failure rate. We expect a success rate of perhaps 10, 15 percent or so.

GUPTA (voice-over): The Undiagnosed Diseases Program was launched only two years ago at NIH. It accepts only the rarest of medical cases and it's not only about saving lives. Here, they are also hoping to discover new diseases and create new science.

GAHL: It's really sort of the inspiration that we all have as clinical researchers.

GUPTA: In two years, the UDP has had more than 3,000 inquiries. More than 1,000 applications actually made it to Dr. Gahl's desk.

GAHL: This is an accepted slur.

GUPTA: But UDP has accepted only a little over 300 patients.

(on camera): You have to tell a lot of people no.

GAHL: We do. Yes.

GUPTA: Seems like that would be hard.

GAHL: It is hard. It's very hard. I have to take some solace in the fact that even though we're turning down a lot of people, we're still helping a chosen few.


LEMON: So, Sanjay, those three last words from Dr. Gahl, the chosen few, really give you a sense of what's at stake in this program. So what needs to happen for a patient to make it through the doors of the Undiagnosed Diseases Program?

GUPTA: It's tough. Because certainly more patients are turned away than accepted by a large number. I mean, the vast majority will never get into a program like this, but these are patients who have not been able to figure out their problems, really just about anywhere else. We're talking about the Stanfords, the Mayos, some of the best facilities in the country.

But also one of the things I found really interesting is that through every patient, potentially these medical mysteries, there is an opportunity to advance science. To figure out something entirely new about the entire field of medicine. That's what these guys are striving for. Not just taking care of the patient. They want that, but they want to move medicine. Sometimes in the faces of a six-year- old girl named Kylie (ph) or a middle-aged mother named Sally (ph), they get just that.


GUPTA: Kylie Dawn McPeak was born in May of 2004. The picture of a perfect baby girl. She developed like a precocious healthy toddler.

STEVEN MCPEAK, KYLIE'S DAD: She was above average on everything. She could say her ABCs when she was like 18 months old.

GUPTA: Then at three and a half, Kylie was diagnosed with type 1 diabetes. Shortly after that, her mom and dad, Gina and Steven noticed something wasn't right. It began with a voice tremor.

KYLIE MCPEAK, PATIENT: I have to (INAUDIBLE). I have to do the shots.

GUPTA: Then Kylie had a seizure and by the time she turned four, her face started to twitch.

(on camera): The first day you sort of realized there was something not right with her because she was this precocious child, zooming past all the milestones, everything. Because you're a parent now and you're trying to figure out is this just me being overly sensitive?

GINA MCPEAK, KYLIE'S MOM: I was told that. I was looking for things that weren't there. It's just really hard. I don't know.

STEVEN MCPEAK: We actually spent a lot of time videotaping her when we saw the little things that started happening because no one believed us.

GINA MCPEAK: Do you know when your birthday is? Good girl. GUPTA (voice-over): The twitching spread down the entire right hand side of her body. Her head began to tilt right. Eating became a struggle. By then, all the doctors agreed something was wrong, but what was it?

A mysterious force was also assaulting Sally Massagee's body. At 53, a wife and a mother of four, her muscles were growing out of control. She was in excruciating pain. She too was accepted into the Undiagnosed Diseases Program.

SALLY MASSAGEE, PATIENT, UNDIAGNOSED DISEASES PROGRAM: I felt sort of if there wasn't a diagnosis, I was pretty certain that it would kill me.

GUPTA (on camera): This is super impressive

UNIDENTIFIED MALE: Look at these things.

GUPTA: You really see a cleavage right in the middle of her back because those muscles are so big.

(voice-over): First suspicious, Sally looked like a steroid junkie, but she wasn't. Absolutely no evidence of that.

MASSAGEE: I just turned off the feelings and I just couldn't - it was really painful. To look in the mirror.

GUPTA: Sally's husband, Buddy.

BUDDY MASSAGEE, SALLY'S HUSBAND: Oh, it was scary. You just waiting to find out what's next. What normal, functional thing people have to do to get through the day was she not going to be able to do next.

GUPTA: No one could offer an explanation for what was happening to Sally. The medical swat team of doctors and specialists at the Undiagnosed Diseases Program quickly ruled out one possibility.

GAHL: Bottom line, bones are not involved. It's not acromegaly. It's just confined to the muscle, what in the world could this be?


LEMON: What in the world could this be? Sanjay, in your experience, what is it about the team that makes them better able to answer the question?

GUPTA: You know, it's interesting. And some of it, surprised me. First of all, they're very good. I mean, there's no question. They're some of the best doctors anywhere in the world. That's one thing. The second thing is sometimes, just laying a fresh set of eyes on a problem, you're at a hospital, one doctor says it. Next doctor agrees. Third doctor agrees. That's the diagnosis. They keep moving down that track.

Here, all of a sudden, they say, well, wait a second. Has anyone ever considered this? Just a fresh set of eyes. The third thing which really surprised me is that they're very good at accepting failure. That's not something you often hear in hospitals. You certainly don't hear it from doctors very often but I think it's really true here.

LEMON: Reality and a new perspective.

GUPTA: That's right.

LEMON: All right. Well, Dr. Gupta is going to stick around with us. So stay with us as the super team at the Undiagnosed Diseases Center tries to figure out the mystery of what is making Kylie McPeak and Sally Massagee so sick when the COVER STORY returns.


LEMON: Welcome back, everyone, to the "CNN Cover Story," "Doctor Detectives". We have with us now, our chief medical correspondent, Dr. Sanjay Gupta, who with the "AC 260" team will be shining the light on this amazing place called the Undiagnosed Diseases Center and will be doing it all week long.

GUPTA: Yes, you know, this place, patients really come from all over the world. It's a place of last resort. I remember seeing that written on a wall when I was over there. They got nowhere else that they can go after this particular place. And these patients, Kylie and Sally, we just met, traveled here for a week to get all these tests.

All the obvious things, Don, had already been done. They've been done in a lot of big hospitals. The obvious tests had been done. The obvious results had come back. What the doctors were looking for now were little clues, does someone behave the same when they sleep as when they're awake? Did anyone else in their family have this? Should we check the DNA of relatives? Just little, little clues that start to add up. So what they found really goes a long way towards solving the mystery.


GUPTA (voice-over): Kylie and her parents made their way from Reno, Nevada to Bethesda, Maryland at the NIH in hopes of finding out what in the world could be wrong with Kylie.

(on camera): Do you want to know what's going on with Kylie if the next sentence was, that there's nothing we can do about it?



STEVEN MCPEAK: I think it would be nice to have a prognosis. To know, I mean, even if it's not treatable, if it is terminal, then how much time we have left as opposed to not knowing. You know, it could all end tomorrow.

GUPTA (voice-over): Kylie will undergo a week-long series of complex tests and evaluations by top medical specialists at NIH. It's physically draining for everyone. And for Kylie's mom and dad, emotionally wrenching. The week is intense.

GAHL: I don't think anybody's seen anything quite like Kylie. It's a very complex case.

UNIDENTIFIED MALE: Can you (INAUDIBLE) the wings of the fly for me?

GUPTA: Dr. Gahl and his team look at everything for clues.

(on camera): Something here is what - that's a really important clue.

GAHL: Very important.

GUPTA (voice-over): Kylie's test began in early morning.

UNIDENTIFIED FEMALE: Beautiful. Can I tell you something? You are all done. Good job.

GUPTA: And will go late into the night.

UNIDENTIFIED FEMALE: Say baby boy. And kitty cat.

STEVEN MCPEAK: It's hard. It's really hard. Hopefully, it's for a good cause.

GUPTA: In the hallways, specialists hold meetings on the fly, throwing out new theories, hoping something they've learned fits into the bigger puzzle in a single diagnosis.

Sally Massagee's mystery did not begin until later in life. At 53 years old, Sally was physically ripped.

SALLY MASSAGEE: Everybody assumed that I spent a whole lot of time in the gym.

GUPTA: But Sally didn't lift weights. In fact, whatever was causing her body to bulk up uncontrollably was also taking away her ability to live her life.

SALLY MASSAGEE: It was very frustrating. I was losing the ability to do the things I loved to do. It became increasingly difficult just to walk. At some point, I knew if it continued, it would kill me.

GUPTA: She had seen countless medical specialists. No one had an explanation. That's why Dr. William Gahl and his team of world class specialists at the Undiagnosed Diseases Program was trying to solve the mystery.

During the week of intense tests, there were scans, blood work, an examination of everything going on inside Sally's body. In five days, the tests are complete. Sally is sent home to North Carolina, but no diagnosis, not yet. In fact, Gahl and his team treat their patients like a crime scene. They collect all the evidence they can find, and then try to make sense of it.

GAHL: We do like the sort of detective work, but remember a lot of the detective work takes place after the patients have gone. GUPTA: At midweek, five-year-old Kylie, her body has only given up a few small clues, but the specialists are eliminating possible causes by finding what is working normally.

(on camera): So this is the right side of the brain and this is the left side of her brain, the right of her body that's affected, so you would expect to see changes on the left side of her brain.

UNIDENTIFIED MALE: I think things are structurally pretty normal. So it's some sort of wiring problem that's not visible.

GUPTA (voice-over): Electroencephalogram or EEG shows Kylie's brain is symmetrical, which is positive news. But there are these spikes of activity. It could point to epilepsia partialis continua. That's a rare brain disorder that affects the brain's motor strip. However, that would only explain Kylie's symptoms, not what's causing it.

UNIDENTIFIED MALE: We're understanding the phenomena but don't really have a full understanding of the underlying mechanisms that brought it on.

UNIDENTIFIED FEMALE: Yes, this will help but not hurt.

GUPTA: By Friday, the tests are complete.

STEVEN MCPEAK: Maybe someday, we'll get that phone call, hey, we think we might know what it is.


LEMON: When the COVER STORY returns, Sanjay Gupta will help us get to know the doctor behind the star medical detective team and how he figures out how much hope he and his patients should have as they piece together the puzzles of Kylie McPeak and Sally Massagee.


LEMON: Welcome back to the "CNN Cover Story." Our chief medical correspondent Dr. Sanjay Gupta is taking us on a journey to a place few have ever seen. It's called the Undiagnosed Diseases Program of the National Institutes of Health, which opens its doors to a selects few patients suffering from conditions that nobody else has been able to diagnose.

So, Sanjay, you spent a lot of time with the man in charge.

GUPTA: Yes, you know, the first thing he told me is he's not Dr. House.

LEMON: He's not that grumpy.

GUPTA: He's not that grumpy. A lot of people sort of expect that I think because House is the person who solves medical mysteries and they thought Dr. Gahl was going to be like him. He's not, he doesn't spend a lot of money on test, although he has them available to him. But he does understands the value of hope. And I think a lot of patients come here who haven't had any hope in quite some time but he also has to really balance that with failure. Again, this idea that he's not going to be able to figure everything out. It's not going to be a happy ending at the end of every single episode. So it's some of the most candid frank conversations he has to have with patients and then he had with me as well.


GUPTA (on camera): For a lot of patients, as we were investigating this, really got the sense that this ends up being a place of last hope or last resort for them. Because a lot of them have been to some of the best places around the country, if not the world. And now they've got it all hinging on this place. That's a lot of pressure.

GAHL: It is. We try to be realistic about it. And get our patients to be realistic about the issue, too. So the first day of a typical visit, I'll go in and tell the patients you know, you've been to the best places in the country. Now you're coming here. We only have a 10 percent to 15 percent success rate so I don't want you to get your hopes up really, too, too, high, but on the other hand, we don't want to take all hope away.

So we want to provide some of that hope. That is really one of the purposes of this program, too. And so we say that at the end of the week, we'll tell you what we know, we'll tell you what we don't know, but it really won't be the end of our pursuit of your case because so many people shall have seen the characteristics of this illness and can be thinking about it in the future and reading the literature on it. So there really is a balance there.

I think of this as in part like the dating services of the '80s where they call it lowered expectations. It's part of our job to make sure that expectation are appropriate, appropriately lowered compared to what most of the patients come in with on Mondays.

GUPTA: Did you have a dating experience in the '80s?

GAHL: Until I met my wife. Yes, I didn't have much of a dating experience actually.

GUPTA: This idea that so many of the patients that come here are, you're not going to figure it out. That's not like television. People, whether it be a show like "House" or a lot of other medically based shows, they expect that you're going to get the answer.

GAHL: that's right.

GUPTA: Are expectations pretty high?

GAHL: You're really addressing the issues of the patients and their expectations. I think another aspect of this is how the physician feel about this. In other words, physicians are not used to failing at the rate that I fail or my team fails, too. It's a little bit difficult for us to reconcile our life's work with an 85 percent to 90 percent failure rate. And so I have to make sure that we're sort of bucked up and our nurse practitioners understand that. And that they retain hope for this patient or that patient in whom they've invested so much.


LEMON: When "The Cover Story" returns.


GUPTA (on camera): Clearly on the right leg, you see a lot of movement here in the right food, sort of the foot is turned inward.


LEMON: Dr. Sanjay Gupta will bring us up to speed on the two cases he's been following - six-year-old Kylie McPeak and the mother of four, Sally Massagee.



GUPTA (on camera): What are your thoughts on hope and optimism, spirituality, prayer, all the things that you can't measure in a lab with a blood test or a scan? How much of a role does that stuff play in someone's overall recovery?

GAHL: There's no question it plays a huge role in people's recovery because it's their outlook on life. So people will feel better if they have a better outlook on life. We see that all the time with our undiagnosed disease patients. Some of them will have relatively minor objective findings and it controls their lives.

They're almost literally paralyzed by this. They can't function properly. And others will have pretty serious problems. And just sort of like children who don't let things bother them too much. They have really serious problems and they'll still be able to function normally by not thinking about those problems and by concentrating on their strengths. It's incredibly important.


LEMON: Welcome back to the "CNN Cover Story." So Sanjay, what is next for the two patients that you've been following at the Undiagnosed Diseases Center?

GUPTA: So they go through this week long of test, you get an idea of just how invasive, how cumbersome, it's very extensive. Some of the most extensive testing they've had but as I learned, people expect an answer at the end of the hospitalization, that doesn't come here.

Now it's really a process for these guys and gals to get into a room, some of the smartest minds around and start poring over all these little data. And again the best way I can think about it is there's a lot of the obvious stuff that they know. What they're really focusing on are thing at the edges.

LEMON: Thank you, Dr. Sanjay Gupta, for joining us on this week's "Cover Story."

GUPTA: Thank you.

LEMON: It was a pleasure having you. And you will see much, much more of Dr. Gupta all week long on "AC 360" as this all-star team of doctor detectives tries to solve medical puzzles that nobody has to break new ground in medicine to save their patients.

I'm Don Lemon at the CNN world headquarters in Atlanta. I'll see you back here at 10:00 p.m. Eastern.