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Doctor Detectives

Aired September 25, 2010 - 07:30   ET


DR. SANJAY GUPTA, HOST: Good morning. I'm Dr. Sanjay Gupta. Welcome to a very special edition of SGMD.

You know, when you think of the program, "House," you probably think of medical mysteries. Of course, they are all actors and the stories aren't real. But the truth is: there are medical mysteries all around us.

And today, we are going to take you to a place where patients go when no one has been able to tell them what is wrong. They are real medical mysteries and they are with real people.

Let's get started.


GUPTA: What if you got sick with a life-threatening condition, but your doctor doesn't know why or what to do. I'm going to take you inside a hospital, a sort of place of last resort, where a team of the most brilliant minds in medicine solve the nation's most mysterious illnesses.

It's right outside the capital, at the National Institutes of Health. You are going to meet some amazing patients who have been through the wringer.


GUPTA (voice-over): Bethesda, Maryland. Deep inside this 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 are talking about patients who have seen by some of the best in the country here. They are very good clinicians and diagnostic doctors everywhere. So, you are taking the hardest of the -- the most challenging cases of all.

DR. WILLIAM GAHL, DIR., NIH UNDIAGNOSED DISEASES PROGRAM: We expect the failure -- we expect a high failure rate. We expect a success rate of perhaps 10 percent or 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 acceptance letter.

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: It seems like that would be hard.

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

GUPTA (voice-over): The few with mysterious conditions no one can diagnose.

Kylie Dawn McPeak (ph) was born in May of 2004, the picture of a perfect baby girl. She developed like a precocious healthy toddler.

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

GUPTA: Then at 3 1/2, Kylie was diagnosed with Type I diabetes. Shortly after that, her mom and dad, Gina and Steven, noticed something wasn't right. It began with a voice tremor.

KYLIE DAWN MCPEAK, UDP PATIENT: I have to eat. I have to do shots.

GUPTA: Then Kylie had a seizure. And by the time she turned 4, her face started to twitch.

UNIDENTIFIED FEMALE: Does your face feel funny?

K. PEAK: No.

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

GINA MCPEAK, KYLIE'S MOTHER: I was told that. I was being -- I was looking for things that weren't there. It's just really hard. I don't know. S. MCPEAK: We actually spent a lot of time videotaping her when we saw the little things that started happening because no one believed us.

UNIDENTIFIED FEMALE: Do you know when your birthday is? Good girl.

GUPTA (voice-over): The twitching spread down the entire right 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? The little girl was deteriorating.

G. MCPEAK: At this point, I didn't know if I should plan for her to go to kindergarten or if we should plan a funeral.

GUPTA: Sally Massagee's mystery did not begin until later in life. She was in her late 40s when her muscles began growing out of control.

(on camera): Do you remember looking at her chart for the first time?

GAHL: Yes, I do. This was referred by an endocrinologist at Duke. And the endocrinologist said, "In my 38 years, I have never seen a case like this," he something like that. Well, OK, that's sort of impressive. What is that? Well, when you see a picture then, that's pretty impressive.

GUPTA (voice-over): Like all patients selected for the Undiagnosed Diseases Program, Sally and her husband, and Kylie and her mom and dad, would come to NIH for a week of complex and exhaustive tests.

UNIDENTIFIED MALE: She's had a spinal cut before?


GUPTA: Where a medical strike force was setting out to solve a mystery and to save their lives.


GUPTA: So, what is next for these two patients we've been covering? The most invasive, cumbersome and expensive testing they ever have to experience probably. But what I've learned is that people expect an answer at the end of a hospitalization. Will they find one? Some tough questions ahead, for Kylie's parents as well as they continue their desperate search for a diagnosis.


GUPTA: And we are back with SGMD.

Today, we are shining a light on doctor detectives and this amazing place called the Undiagnosed Diseases Program at the NIH. Patients really come from all over the place. It's a place of last resort, last hope.

These patients, Kylie and Sally, they traveled here for a week testing. And what the doctors are looking for are little clues. Things that may not be that obvious, but could add up to answering and solving this fascinating puzzle. We pick up with Kylie's story.


GUPTA (voice-over): Kylie McPeak was sick and getting sicker. Her parents have spent nearly two years with specialists.

No one could diagnose what was happening to Kylie, her voice tremors, the twitches that were convulsing the entire right side of her body.

G. MCPEAK: I felt like a bad parent. Why can't I help my kid? So --

S. MCPEAK: I can't really put it into words, just helpless.

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

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



S. MCPEAK: Just -- 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. For Kylie's mom and dad, emotionally wrenching.

The week is intense.

GAHL: I don't think anybody seen anything quite like Kylie. This is a very complex case. It could be difficult to solve.

GUPTA (on camera): In the right leg, you see a lot of movement here. The right foot sort of, the foot is turned inward. They called that dystonia or abnormal tone. A lot of tone in these muscle groups here.

The left side has it a little bit as well. But not quite as bad, although there's that constant movement going on -- you can see it in the feet, you can see it in the hands, you can see it in her eyelids and clearly in her voice.

(voice-over): Dr. Gahl and his team look at everything for clues.

UNIDENTIFIED MALE: What happens with sleep?

G. MCPEAK: Oh, it stops when she sleeps.

GUPTA (voice-over): It stops when she sleeps?

G. MCPEAK: Completely stop.

GUPTA: That's a very important clue, right?

UNIDENTIFIED MALE: Very important, yes.

GUPTA (voice-over): Kylie's tests begin in early morning --

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

GUPTA: -- and go late into the night.



S. 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 into single diagnosis.

UNIDENTIFIED MALE: A lot of unanswered questions, absolutely.

GUPTA (on camera): For a lot of patients as we were, you know, investigating this, really got the sense that this ends up being a place of last hope or last resort for them. 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 issues, too. We'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 too, too high. But, on the other hand, we don't want to take all hope away.

GUPTA: Sally Massagee knew what she was doing there.

SALLY MASSAGEE, UDP PATIENT: I took that disclaimer and I heard it. I mean, I still clutched a strong dose of hope.


GUPTA: And up next, you are going to hear more about Sally. Her own body is sort of turning against her and doctors have been baffled. The question is: can they solve the puzzle? Her story is next.

Stay with us.


GUPTA: Welcome back to SGMD.

Sally Massagee, she has this mysterious disease that's literally causing her muscles, all of them, to grow out of control -- so massive, they are actually starting to crush her. I joined Sally and her doctor at the Undiagnosed Diseases Program at the NIH. That's the National Institute of Health.

They are trying to solve the puzzle. They put her through these exhaustive battery of tests and evaluations. Here's her story.


GUPTA (voice-over): At 53 years old, Sally Massagee was physically ripped.

MASSAGEE: And I had everybody assumed 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.

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

GUPTA: She'd seen countless medical specialists. No one had an explanation.

And that's why Dr. William Gahl and his team of world class specialists at the Undiagnosed Diseases Program was trying to solve the mystery.

(on camera): This is super impressive. I mean, you can literally see a cleavage right in the middle of her back because those muscles are so big.

(voice-over): Dr. William Gahl is the program's lead investigator.

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

GUPTA: During a week of intense tests, there are scans, blood work, an examination of everything going on inside Sally's body.

(on camera): So, this is -- this is Sally's MRI of her brain. It's pretty incredible.

GAHL: When the images were found, it was seen that the muscles, even the muscles that govern the movements of the eye

GUPTA: Right.

GAHL: It's really small muscles, are huge. The neuroradiologists saw this and they sort of went wild over this. Look at the size of this. They are three to four times bigger.

GUPTA: They have probably never seen anything like this.

GAHL: Right. Because there's no way to make these muscles big by like moving your eyes a lot -- you know, it's not like lifting weights. So, why were they that big?

GUPTA (voice-over): It's a clue. It suggests something inside the muscle itself. So, the UDP team took a sample.

(on camera): You took some muscle from her arm?

GAHL: Right. And, really, this was one of those sorts of judgment decisions because she had had a muscle biopsy one year before that was read as normal. So, we weren't like 99 percent sure we should do this. We were like 70 percent or 80 percent sure.

GUPTA (voice-over): 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 sort of detective work. But, remember, a lot of the detective work takes place after the patients have gone.

GUPTA: But that decision to take the sample of muscle tissue from Sally's bicep will in time that will prove to be a key part of this puzzle.


GUPTA: So, you are probably wondering how do all those clues come together and is it solvable? Well, ahead, we'll have the conclusion of this medical mystery.


GUPTA: Topping our medical news headlines: a decision about a popular diabetes drug linked to concerns about heart problems. The FDA decided this week that Avandia should be restricted to patients who can't control their diabetes with other medications. GSK or GlaxoSmithKline has responded, saying the company continues to believe that Avandia is an important treatment for patients with Type II diabetes.

And also, the European Medicines Agency, that sort of the European equivalent of the FDA, they say the drug should be pulled entirely from the market, shouldn't even be advertised. Of course, that decision must be ratified still by the European Commission and a final decision is expected in the next few weeks.

Also, in other news, you may remember the whole thing a month ago about an Iowa company that was forced to recall millions of eggs because of a salmonella outbreak. Well, now, the owner of an Iowa firm involved in the recall has apologized to anyone who may have become sick from his tainted eggs. The owner of Wright County Eggs says he was horrified when he learned that the widespread salmonella alert possibly originated at his company.

A House subcommittee is investigating the outbreak and the president of another Iowa egg firm has declined to answer congressmen's questions when asked if he knew about questionable conditions at one of his facilities.

So, the Census Bureau says poverty is at its highest level in decades. And we point this out because when thinking about things like joining a gym, trying to get fit -- well, many people tell me they simply can't afford it. These are tough economic times.

So, I wanted to spend just a minute today showing you how I work out. My trainer hooked me up with an exercise circuit sort of program that I can do just about anywhere, even when I'm on the road, a local park being the easiest place.

You do chin-ups. You do lunges, jumping jacks, even running short hills without a lot of rest in between. It's great way to get your heart rate up. And it's kind of like being in gym class back in grade school.

You want to do -- you want to use what's around you. In this case, it's sort of a green workout and you can use all these different muscle groups really exercise them. A workout like this, I can tell you, really gets your heart rate up to its maximum level, keeps it there as well for at least 30 minutes. Of course, that's what the American Heart Association wants you to do.

Now, will this team of brilliant doctors be able to solve the puzzle of Sally and Kylie? We'll finally have the conclusion -- that's next.


GUPTA: We're back with SGMD.

All morning long, you've had the opportunity to meet these two patients who have mysterious diseases. They came to the NIH as a last resort to find out if anyone could tell them what was wrong and to try to come up with some sort of treatment.

Big question: have they been able to solve these mysteries? Take a look.


GUPTA (voice-over): As tests came back, clues showed the electrical charges in Kylie's brain were not coming from just one area but, in fact, from all over. So, they were back to square one.

GAHL: Well, you try to differentiate whether this is something that was genetic or something environmental. In other words, that happened to her. And, really, that's a dichotomy here.

GUPTA: In time, an analysis of Kylie's DNA revealed the genetic clue. They found a mutation in a particular gene that makes a protein called laforin.

(on camera): Is it possible that what we're talking about here with regard to Kylie is truly something that's never been described before?

GAHL: It's very possible.

GUPTA: Brand new?

GAHL: Brand new mutation and maybe identifying a gene that is -- is not known previously to cause a human disease.

GUPTA (voice-over): Back home in Reno, Nevada, Gina and Steven are trying to focus on enjoying the time they have as a family. Although Kylie is deteriorating, she's happy.

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

GUPTA: In Bethesda, Maryland, the doctors at the Undiagnosed Diseases Program are digging deeper into that genetic clue. They're doing a DNA analysis of Kylie's parents and sisters. They know it is now a race.

GAHL: Every new case that comes to us brings with it a human story. I think the important thing is, for us as professionals, to look at the successes that we have and to try to not dwell on the -- on the failures that we have, because we fail so often.

GUPTA: But not always. Luckily for Sally Massagee, the experts at the UDP solved her mystery.

MASSAGEE: I expected miracles from them and they gave it to me.

GUPTA: The tissue sample they took from Sally's muscle hit the jackpot. In the Congo red staining of the biopsy, scientists at the UDP found the presence of amyloid, abnormal proteins that come from cells in the bone marrow.

GAHL: That was a huge hit for us.

GUPTA: Mystery solved. The diagnosis: AL amyloidosis. It is rare disease in which protein deposits in a patient's organs or tissues. Sally's was a mystery because the proteins here manifested in her skeletal muscles.

(on camera): You get mysteries that you don't solve and you get mysteries that you solve. This is one that you get to put a check in the solved column?

GAHL: Yes. Yes, it is.

GUPTA: That's got to be a pretty good feeling.

GAHL: Oh, it was the best. I mean, basically, it's -- sort of justifies our existence.

GUPTA: But for Sally, a diagnosis meant only that now she had a chance for survival. There is no cure for this disease. In June of last year at the Mayo Clinic, she underwent chemotherapy and stem-cell transplant in the fight of her life.

MASSAGEE: And there were times in the process when I thought it was real possible I would die.

GUPTA: Today, Sally Massagee is far from 100 percent. Doctors don't know if Sally's body will ever return to what it was like before the disease struck. But for Sally, that's not what's important.

MASSAGEE: Those routine, ordinary moments of life are so wonderful and are so precious. And I have them and I'm so grateful. At my age, they not only found it, but they found it just in time.


GUPTA: I got to tell you, just incredible stuff. I've been fascinated by the doctors at this place, the Undiagnosed Diseases Program, long before I met them. They are doctors who are trying to look at the anomalies, the aberrations that most people dismiss and trying to make sense of them.

They sort of work on the fringe a lot and they accept that failure rate, again 85 percent to 90 percent. Obviously, in Sally's case, they had a success. They figured it out.

In Kylie's case, they're going to keep going. They're going to keep working. It's a process. They're trying to help patients and also advanced science. Amazing stuff.

And if you missed any part of today's show, be sure to check out my podcast, Also, set your DVR, 7:30 Eastern.

I'm Dr. Sanjay Gupta.

More news on CNN starts right now.