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CNN Live Event/Special

Doctor Detectives

Aired October 01, 2010 - 20:00   ET

THIS IS A RUSH TRANSCRIPT. THIS COPY MAY NOT BE IN ITS FINAL FORM AND MAY BE UPDATED.

DR. SANJAY GUPTA, CNN SENIOR MEDICAL CORRESPONDENT: I'm Dr. Sanjay Gupta.

And, over the next hour, I am going to be taking you inside a truly amazing place, where some of the most baffling medical mysteries on the planet are being put under the microscope, mysteries like Amanda Young's (ph). As a toddler, Amanda began developing life- threatening infections, but her doctors didn't know why. When she was 8 years old, a simple scratch led to gangrene and her leg had to be amputated.

No one could figure out why her body was so vulnerable.

For Dunham Orleas (ph), the mystery was why his body was producing a freakish amount of kidney stones, an extremely painful and dangerous condition.

Until recently, medical mysteries as tough as these usually ended up as cold cases, unsolved. Patients simply had to live, even die, without a diagnosis.

But now there is a place to go, the Undiagnosed Diseases Program at National Institutes of Health. For patients who are accepted, it is a chance, however slim, to finally get a diagnosis, possibly even a cure.

We have been working on this report for more than a year. And, as a doctor, I got to tell you, what we found was fascinating.

At the UDP, teams of highly trained doctor detectives approach each patient as a group puzzle, pooling their expertise as they search for clues to help them crack these mind-bending cases. They know the odds of solving any of these mysteries are long, but they hope to chart new science and discover new diseases along the way.

Patients' costs? They're covered. No promises are made. And, sometimes, just sometimes, lives are transformed.

Tonight, you are going to meet two patients, 6-year-old Kylie and Sally, a mother of five. Both were running out of time when they came to the UDP. They were desperate for answers. Would they find them?

You're watching "Doctor Detectives."

(BEGIN VIDEOTAPE) 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.

DR. WILLIAM GAHL, UNDIAGNOSED DISEASE PROGRAM: 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): But 10 or 15 percent is a bright ray of hope for some patients.

UNIDENTIFIED FEMALE: How much more you can do physically really speaks volumes.

SALLY MASSAGEE, PATIENT, UNDIAGNOSED DISEASES PROGRAM: Yes.

GUPTA: Sally Massagee had all but given up. Take a look at her back. It was as if muscle mass was consuming her body. Sally was transforming into the incredible Hulk.

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

GAHL: Even the muscles that govern the movements of the eye, which are really small muscles, are huge. The neuroradiologist saw this and sort of went wild over this, says, "Look at the size of those. They're three or four times bigger.

GUPTA: They had probably really truly never seen anything quite 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 would they be that big?

GUPTA (voice-over): It was a mystery. No doctors, no specialists, no one could diagnose what was happening to Sally, which is why she was selected to come here. It's called the UDP, the Undiagnosed Diseases Program. It's a medical mystery ward.

Kylie McPeak is 6. She was also selected to come to the UDP.

GINA MCPEAK, KYLIE'S MOM: She knows she's different, but it doesn't seem to faze her. She kind of seems like she's -- just like a normal kid.

GUPTA: How serious is Kylie? GAHL: Well, she's I would say, real serious. I think that she has a disorder that will threaten her life. It's essentially the issue here -- we're sort of racing against time.

GUPTA: The Undiagnosed Diseases Program was launched only two years ago at NIH. It accepts only the rarest of medical cases.

DR. SCOTT PAUL, NIH PHYSIATRIST: And there is a saying. When you hear hoofbeats, think of horses, not zebras. And I say, but if you hear hoofbeats in Africa or the NIH, it is probably a zebra.

GUPTA: 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: 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.

GUPTA: The few, with mysterious conditions no one can diagnose. 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, FATHER OF KYLIE: She was above average on everything. I mean, she could say her ABC's when she was like 18 months old.

GUPTA: And then at 3-and-a-half she was diagnosed with Type One 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 eat. I have to do shots.

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

(on camera): The first day you sort of realized that there was something that was not right with her, because she was a precocious child, just 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? G. MCPEAK: 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.

G. MCPEAK: Do you know when your birthday is?

K. MCPEAK: May 5.

G. MCPEAK: Good girl.

GUPTA: The twitching soon spread down the entire right side of her body. Her head began to tilt to the right, eating became a struggle. By then, all of 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 birthday or should I 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 seeing 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 said something like that.

OK. That's sort of impressive. What does that mean? What does that mean? Well, when you see a picture, then, that's pretty impressive.

GUPTA (voice-over): Like all the 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 tap before?

UNIDENTIFIED FEMALE: Yes.

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

BUDDY MASSAGEE, HUSBAND OF SALLY: I went in there in hopes of them finding an answer.

S. MCPEAK: This is our last hope, but at the same time it's -- we finally made it to the people that are going to find out what's wrong.

(END VIDEOTAPE) GUPTA: The McPeak family will travel more than 2,000 miles to the National Institutes of Health. After their cross-country journey, they're going to endure one of the most grueling weeks of their lives, physically and emotionally, as the doctor detectives at the UDP go to work. Just ahead, we're going to show you what it was like for Kylie and her parents.

(BEGIN VIDEO CLIP)

S. MCPEAK: It's hard. It's really hard. But, hopefully, it is for a good cause.

(END VIDEO CLIP)

(COMMERCIAL BREAK)

(BEGIN VIDEOTAPE)

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: Dr. William Gahl chief investigator at UDP, the Undiagnosed Diseases Program at the National Institutes of Health.

GAHL: I remember vividly the first time that I met her by video. It was at one of our UDP board meetings.

UNIDENTIFIED FEMALE: Can you smile for me?

GAHL: You could have heard a pin drop in that room. There were 60, 65 people in it. And they're all, essentially, emoting over this terrible occurrence.

GUPTA: Last year, Kylie was accepted into the program.

S. MCPEAK: Anywhere is going to find answers, it will be here, that these are the best of the best.

GUPTA: 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.

S. MASSAGEE: I felt sort of if there wasn't a diagnosis, I was pretty certain that it would kill me.

GUPTA: Sally's husband, Buddy. B. MASSAGEE: 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, the bone is not involved. It's not acromegaly. It's just confined to the muscle. What in the world could this be?

GUPTA: That's always the question here.

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?

S. MCPEAK: Yes.

GUPTA: Why?

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. 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. And it could be difficult to solve.

GUPTA: Clearly in the right leg, I see a lot of movement here of the right foot sort of -- the foot is turned inward. They call that dystonia or abnormal tone, not a lot of tone in these muscle groups over here.

Left side has a little bit, as well, but not -- 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.

UNIDENTIFIED MALE: Can you pinch the wings of the fly for me?

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

DR. CAMILO TORO, NEUROLOGIST: Something curious about what happens with sleep.

(CROSSTALK) UNIDENTIFIED MALE: So, she stops when she sleeps. That's a really important clue, right?

DR. CAMILO TORO, NEUROLOGIST: It's very important, yes.

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

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

UNIDENTIFIED FEMALE: Good job.

GUPTA: And go late into the night.

UNIDENTIFIED FEMALE: Baby, blink. OK.

S. MCPEAK: It's hard. It's really hard. But, hopefully, it's for a good cause.

GUPTA: In the hallways, specialists hold meetings on the fly, throwing out new theories, hoping something they have learned fits into the bigger puzzle and a singular diagnosis.

TORO: A lot of unanswered questions, absolutely.

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

(on camera): Are the expectations pretty high?

GAHL: Well, the expectations are high until I reiterate what their expectations should be.

But, on the other hand, we don't want to take all hope away. 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 (voice-over): Sally Massagee knew what she was doing there.

SALLY MASSAGEE, PATIENT: I took that disclaimer and I heard it. And I still -- strong dose of hope.

GUPTA: But will Sally's hopes for a diagnosis actually pan out? Or will they be crushed?

Well, coming up we will show you the exhausting week of testing she went through and some important clues the doctor detectives uncovered. As for Kylie, will the clues her body gives up be enough to identify the disease that is killing her? Just ahead: It is a difficult and emotional week, and it wraps up for the McPeak family.

G. MCPEAK: It was just, I think, too much for me at that exact moment.

S. MCPEAK: It scared me, because the I didn't want it to be the end.

(END VIDEOTAPE)

(COMMERCIAL BREAK)

(BEGIN VIDEOTAPE)

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

S. 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.

S. 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. 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 really see a cleavage right in the middle of her back because those muscles are so, so big.

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

(on camera): When you see these pictures, they are pretty incredible. Did you think steroids?

GAHL: Sure. We pretty much all thought it, except that the letter said she's not taking steroids, she's not taking anything anabolic, and she did weight-lift a little bit, but many years before. So there's no possible effect of that.

So, the endocrinologist had eliminated all those things that we would naturally think about.

GUPTA (voice-over): 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 Sally's MRI of the brain. That'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, which are really small muscles, are huge. The neuroradiologist saw this and sort of went wild over this. He says look at the size of those. They're three to four times bigger.

GUPTA: They have probably really had truly never seen anything quite like this.

GAHL: Right, because there's no way to make those muscles big by, like, moving your eyes a lot. It's not like lifting weights. So why would they be 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, sort 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, 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.

(on camera): In medicine, it's striking that it is almost kind of rote, most of medicine. It's literally A, B, C. We do the same thing, the same way every single time. Here, it is totally different.

GAHL: Well, it's true. This is a different paradigm. So, this, to me, is the perfect amalgam of training in knowledge, having acquired a certain fount of knowledge, and then applying it to cases that are not yet solved. And, so, I find that extremely stimulating.

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

At midweek for 5-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 her brain, and this is the left side of her brain. It's the right side of her body that's affected, so you would expect to see changes on the left side of her brain.

TORO: I think things are structurally pretty normal, so it's some sort of wiring problem that's not visible.

GUPTA (voice-over): An electroencephalogram, or EEG, shows Kylie's brain is symmetrical, which is positive news. But there are these spikes of activity.

TORO: Very, very asymmetrical.

GUPTA: They 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 them.

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

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

GUPTA: By Friday the tests are complete. Now Dr. Gahl and his team are planning what they're going to tell Kylie's parents.

Waiting in another room, Kylie's mom and dad are anxious, hopeful.

G. MCPEAK: They might have some things back from that, so it's exciting and I'm nervous.

UNIDENTIFIED FEMALE: So we want to document that for her.

GUPTA: But the doctors have no diagnosis.

UNIDENTIFIED MALE: We're working all sorts of thing that have yet to come back for us to consider.

GUPTA: Instead they explain how the results will guide their investigation.

GAHL: We continue to work together on this.

GUPTA: For Kylie's mom and dad, Gina and Steven, the emotional toll of the week is just so overwhelming.

GAHL: We don't consider this to be a final diagnosis. The parents are really having sort of a tough time. And this is quite typical for this program.

G. MCPEAK: It was just I think too much for me at that exact moment, so...

S. MCPEAK: It scared me because I didn't want it to be the end.

GUPTA: For the next several months, the UDP team will chase every clue, hoping it leads them to a prime suspect: what is killing Kylie and how to stop it.

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

(END VIDEOTAPE)

GUPTA: So, no diagnosis yet for Kylie. And it is a crushing blow for her parents, but the investigation isn't over.

Coming up: A crucial clue surfaces deep within Kylie's DNA. Will it be a key to this puzzle?

Also ahead: Sally gets the best possible news ever: a diagnosis. Her medical cold case is solved.

(BEGIN VIDEO CLIP)

S. MASSAGEE: It was exciting, wonderful for me to have this diagnosis, because they weren't going to be trying to figure out what it was at the autopsy, you know? And, so, I was thrilled. It may be a tough diagnosis, but it was a wonderful one for me.

(END VIDEO CLIP)

(COMMERCIAL BREAK)

COOPER: I'm Anderson Cooper. Sanjay Gupta reports. "Doctor Detectives' continues in a moment. But first, this "360" bulletin.

A Michigan assistant attorney general is under fire for his blog post about an openly gay college student, has taken a voluntary leave of absence. Andrew Shirvell 31 faces a disciplinary hearing when he returns. He sharply attacked Chris Armstrong, the president of the University of Michigan student assembly, calling him a radical homosexual activist, a racist and a liar. Armstrong is pursuing legal action against Shirvell. Much more tonight on this story on "360" at 10:00 p.m.

It's official. President Obama has lost his tough talking right- hand man, Rahm Emanuel, who stepped down today as White House chief of staff.

(BEGIN VIDEO CLIP)

OBAMA: The last 20 months, Rahm has exceeded all of my expectations. It's fair to say that we could not have accomplished what we've accomplished without Rahm's leadership from preventing a second depression, to passing historic health care and financial reform legislation, to restoring America's leadership in the world.

(END VIDEO CLIP)

COOPER: Rahm Emanuel is expected to run for mayor of Chicago. He's being replaced temporarily by deputy chief of staff, Pete Rouse.

Closing arguments today in the murder trial of Steven Hayes, the first of two defendants to be tried in connection with a deadly home invasion in Connecticut. He's accused of killing Jennifer Hawke-Petit and her two daughters in 2007. Hayes could face the death penalty if convicted. His accused accomplice will be tried separately. Also tonight, deadly flooding along the Eastern seaboard from the Carolinas to the northeast, has caused at least eight deaths including seven in North Carolina, which has suffered the worst flooding with many areas submerged. Many people there had to be rescued from their homes by boat. The town of Windsor in Bertie County is said to be in dire condition, with water six or seven feet deep in many homes and businesses.

Rescuers in Chile now believe they may reach the 33 trapped miners later this month rather than in November. That's because they've successfully tested a rescue capsule and drills are cutting ever closer to the miners who've been stuck in that mine since August 5th.

I'm Anderson Cooper. Dr. Sanjay Gupta reports. "Doctor Detectives" continues in a moment.

(COMMERCIAL BREAK)

GUPTA: Tonight, we're bringing you a special report, "Doctor Detectives." We spent more than a year following the stories of two patients. Six-year-old Kylie and Sally, a mom. They are both very sick and they were getting worse. Their symptoms were completely different but they had something in common. Whatever was making them so sick was a mystery.

Both Kylie and Sally had seen dozens of doctors but no one had been able to figure out what was wrong with them. So they've come to the undiagnosed diseases program at the National Institutes of Health hoping to get some answers and possibly a chance for a cure.

The UDP is sort of like a medical version of "CSI." Patients are literally scoured for clues during a week of intensive tests and exams. No test result is left unturned. If you're going to crack a case that has stumped every doctor before you, you need to think outside the box and you need to work together. That's the premise of UDP. Would it all work for Kylie and Sally?

(BEGIN VIDEOTAPE)

GUPTA (voice-over): No one, no doctors, no specialists, no researchers could explain what was happening to Sally Massagee. Her muscles had grown grotesquely large and hard, like rocks underneath her skin.

SALLY MASSAGEE, UDP PATIENT: It became increasingly difficult just to walk. At some point I knew if it continued, it would kill me.

GUPTA: For one week, Dr. Gahl's team of world class medical experts probed and collect exhaustive scans, blood work and a tissue sample from Sally's bicep.

DR. WILLIAM GAHL, DIRECTOR, NIH UNDIAGNOSED DISEASES PROGRAM: We do like the sort of detective work. But remember a lot of the detective work takes place after the patients have gone.

GUPTA: After five days, the patients go home. And despite the odds against success, they are less desperate.

MASSAGEE: I took that disclaimer and, I heard it, and I still questioned a strong dose of hope.

GUPTA: What would be months of an exhaustive search for clues to solve Sally's mystery was just beginning.

GAHL: Bottom line, the bone is not involved. It's not acromegaly. It's just confined to the muscle. What in the world could this be?

GUPTA: It's also what everyone is asking about 6-year-old Kylie McPeak.

UNIDENTIFIED FEMALE: How are you doing today?

GUPTA: Shortly before her fourth birthday, the mystery began. Something was attacking her body.

KYLIE MCPEAK, UDP PATIENT: I have to eat. I have to do a shot.

GUPTA (on camera): How serious is Kylie?

GAHL: Well, she's, I would say real serious. I think that she has a disorder that will threaten her life. It's essentially the issue here. We're sort of racing against time.

GUPTA (voice-over): Kylie has already been at the UDP for a week.

UNIDENTIFIED FEMALE: Swallow.

GUPTA: Dr. Gahl and his team have been sifting through all the data they've amassed on her.

(on camera): Do you have a diagnosis for Kylie?

GAHL: We don't have a diagnosis, no. But we have about a few good leads.

GUPTA (voice-over): For a time, they suspected a rare brain disorder called epilepsia partialis continua. It affects the brain's motor strip. But 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 the dichotomy here.

GUPTA (on camera): That's sort of the first step for everybody. I mean, genes or the environment?

GAHL: Pretty much. And sometimes you can get at one or the other of those more easily. GUPTA (voice-over): 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 what we are talking about here with regard to Kylie is truly something that's never been described for?

GAHL: It's very possible. You know, that's true.

GUPTA: What do you mean?

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

GUPTA (voice-over): Gahl isn't sure if this mutation is causing Kylie's disease or if she has some sort of autoimmune disorder that affects both her pancreas and brain tissue. Questions that may be impossible to answer. At the very least, they're going to require more time.

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.

GINA MCPEAK, KYLIE'S MOTHER: I'm scared that they might not find something in time. And the reality is, yes, they might not find anything, but if they're still looking and they haven't given up, that's kind of like someone is on your side.

STEVEN MCPEAK, KYLIE'S FATHER: 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: And 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 them 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 proteins deposit themselves in a patient's organs or tissues. According to the Amyloidosis Foundation, an estimated 2,000 people in the United States are diagnosed with the disease every year. Sally's was a mystery because the proteins 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. Basically it's -- it sort of justifies our existence.

GUPTA (voice-over): But for Sally a diagnosis meant only that now she had a chance for survival. There is no cure for this disease.

MASSAGEE: It's exciting and wonderful for me to have this diagnosis, because they weren't going to be trying to figure out what it was at the autopsy. You know. And so I was thrilled. It may be a tough diagnosis, but it is a wonderful one for me. Just to have one.

GUPTA: In June of last year, at the Mayo Clinic, she underwent chemotherapy and a 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.

BUDDY MASSAGEE, SALLY'S HUSBAND: Every day she is a little bit stronger. And every day she walks a little bit further. You just sort of have to smile because these are things that were inconceivable a year ago.

GUPTA: Sally and her husband Buddy recently returned to the Mayo Clinic for her yearly checkup.

UNIDENTIFIED FEMALE: So it doesn't get much better than this, really.

MUSIC: I see trees of green.

GUPTA: 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: I was cooking last week one night in the kitchen. Everybody was around you, and Louis Armstrong came on the radio singing "What a Wonderful World." And I just started to cry because those routine ordinary moments of life are so wonderful and they're so precious and I have them and I'm so grateful to -- and they found it and they found it just in time.

MUSIC: And I think to myself what a wonderful world.

(END VIDEOTAPE)

GUPTA: She was dead, now she's alive. That's what sally told us back in May nearly a year after her stem cell transplant. She's continued to get stronger.

Just ahead, you're going to be able to see for yourself how she's doing today. Sally is going to join me right here in the studio. We'll also tell you how Kylie is doing now that she's back home. She's marked some big personal milestones and the doctor detectives at the UDP, they haven't given up on her case not by a long shot. Their investigation continues. We'll tell you the latest -- just ahead.

(COMMERCIAL BREAK)

GUPTA: We've shown you the exhausting and emotional journey both Sally and Kylie have gone through as the doctors at the Undiagnosed Diseases Program tackled their medical mysteries. For Kylie, the journey continues. Unfortunately, her case is pretty much where it was when we last saw here. There have been no advancements. But the doctor detectives at UDP say they aren't giving up. They're still exploring every option.

And remember that crucial mutation they found in Kylie's DNA? They could still help solve her mystery one day.

Meantime, we could tell you Kylie is back home in Reno, Nevada. She graduated from kindergarten, started first grade this fall. She's also once again a big sister. Her parents, Gina and Steven, say they're enjoying being home together as a family. And they haven't given up hope that Kylie one day is going to get a diagnosis.

As for Sally Massagee, well, she's one of the big UDP success stories. Against some pretty steep odds, she left the UDP with the holy grail, a diagnosis. There's no cure for her condition, but she was able to get treatments that have made a huge difference in her health. Her muscles are no longer growing out of control. In fact, they're getting smaller.

Slowly and steadily, Sally is getting back to her old life. I spoke to her earlier. The first thing I noticed, she's literally glowing. It was remarkable to see.

(BEGIN VIDEOTAPE)

GUPTA: Sally, we last saw you in June. How are you feeling now?

SALLY MASSAGEE, UDP PATIENT: I'm doing great.

GUPTA: Are you 100 percent back to normal?

MASSAGEE: I feel like I'm 100 percent. I might not be as fit as I've been at my most fit times, but I'm feeling really strong and really good. And I continue to feel better every several days. GUPTA: You know, people saw those images and how big the muscles had become but what -- what did it feel like? I mean, was it painful? And were you able to do the things you wanted to do in terms of movement?

MASSAGEE: No, I was very impaired and increasingly impaired.

GUPTA: Like what sort of things couldn't you do?

MASSAGEE: It's very difficult. I -- walking was very, very difficult. And I think that that was a mechanical thing. The muscles were so big and they scrunched up so hard it became very painful to walk. I couldn't adjust a turtleneck on my sweater. I couldn't reach up, I was so muscle bound. And so I couldn't put on earrings because I couldn't reach up that high to, and hold my hand up there that long. I couldn't, it was difficult to stand, to fix dinner.

GUPTA: Just everything.

MASSAGEE: Everything was increasingly difficult.

GUPTA: Was it worse during the day or at night when you were trying to sleep?

MASSAGEE: No, I wasn't able to function normally at any time.

GUPTA: How about pain? I mean, were you having pain? How did you control it?

MASSAGEE: It was very painful. I don't know that the condition itself was so painful. But I think mechanically what it did to my body, it being so heavy, the muscles were so heavy and they were so very tight. And they would just cinch up tighter and tighter, that there would be a lot of pain. And the muscles were so weak then they would fatigue very, very quickly. It hurt.

GUPTA: That's a misconception. People thought that you were actually stronger.

MASSAGEE: Right.

GUPTA: But you were in fact weaker.

MASSAGEE: Right.

GUPTA: And less --

MASSAGEE: The muscles would fatigue very, very quickly.

GUPTA: When Dr. Gahl -- I found this so interesting -- Dr. Gahl told you when you came in the chances were remote.

MASSAGEE: Right.

GUPTA: That they were going to figure this out. Eighty-five to 90 percent chance they wouldn't figure it out. MASSAGEE: Right.

GUPTA: What did you think at that moment when you heard that?

MASSAGEE: I heard it. And I understood it. And my memory was that -- what they said was that they were very unlikely to have a diagnosis. But I still felt that it was very likely that they might figure out what was going on in my body and might be able to find sort of a work around. You know? Maybe not this is this disease, but your body is doing these things and we can try blocking this or facilitating this to make it function OK.

GUPTA: So they might be able to offer some treatment even without a diagnosis?

MASSAGEE: Right. Right.

GUPTA: This was going on for a long time.

MASSAGEE: Yes.

GUPTA: You look at yourself in the mirror. You'd see the physical changes.

MASSAGEE: Yes.

GUPTA: We talked about that. Emotionally how are you doing? I mean -- let me just ask -- was there a vanity part to this? I mean, you're changing?

MASSAGEE: Oh, yes, it was very difficult. All of it was very difficult. And it ended up being an experience that grew me a lot. The experience was almost a weight room for me emotionally and mentally and spiritually in coming to deal with things differently. Because it is very difficult to see myself get heavier and heavier and bigger and bigger. And what was difficult when I look just like a compulsive weight lifter, you know, because that wasn't who I was. But it was also very difficult to lose the ability to do all the things I had been accustomed to doing. I couldn't Christmas shop. You know, I Christmas shopped online one year because I just couldn't --

GUPTA: Really? Couldn't even leave the house.

MASSAGEE: -- walk through the malls. I couldn't get in from the parking lot and walk through the store.

(END VIDEOTAPE)

GUPTA: You know, as a doctor, just watching Sally go through her ordeal has been a real education for me. In our interview the other day, I asked Sally what she would tell other patients who are waiting for a diagnosis and they're racing the clock. She had some great advice. That's just ahead.

(COMMERCIAL BREAK) GUPTA: As a doctor, I can tell you that medical mysteries are frankly fascinating. A chance to discover something new to break scientific ground, but it's also incredibly frustrating when you can't help a patient because you just don't know what is wrong. For the patient, of course, it's terrifying. And before Sally Massagee got her life-saving diagnosis, she spent a decade watching her health fail as her muscles grew out of control. When we talked earlier, she described the fear she lived with. Here's part two of our interview.

(BEGIN VIDEOTAPE)

GUPTA: We know that if this had gone untreated, undiagnosed and untreated, it's a fatal problem.

MASSAGEE: Yes.

GUPTA: It would have killed you.

MASSAGEE: Yes.

GUPTA: Did you ever think about that yourself?

MASSAGEE: Oh, yes, I was sure that it would kill me. At some point, I really put off acknowledging that to myself. But I remember -- I know I had come to believe that it would kill me and I remember one time specifically driving in the car by myself down the highway and realizing how quickly the process was accelerating. It wasn't just that things were getting worse and worse. It was that they were doing so more and more quickly. And -- and it sort of flashing back on the changes and the times of the changes and thinking it's not going to take as long as I had thought. You know, it's going to be quicker than I had, had thought that it might be. And it was sad and frightening.

GUPTA: Right.

MASSAGEE: And it was very sad. The hardest was knowing the pain I was giving my kids and husband because they loved me so much. And they had those same fears, you know?

GUPTA: I can't imagine. You know it's happening and there's nothing you can do about it.

MASSAGEE: Right. Nothing.

GUPTA: You went to the best places?

MASSAGEE: Yes.

GUPTA: And you kept hearing the same thing.

MASSAGEE: Yes.

GUPTA: We don't know.

MASSAGEE: Right. GUPTA: At some point, you must just have wanted to scream. I mean, you have certain expectations I guess as a patient?

MASSAGEE: It was frustrating. At the same time, there was no question in my mind that those doctors were doing everything they could do. You know, I was very grateful to them keeping trying. And it certainly wasn't that they weren't trying with every ounce of energy and ability that they had.

GUPTA: Right.

The -- you know when you finally ended up at the NIH and they did this biopsy again, which ended up being it.

MASSAGEE: Yes.

GUPTA: That ended up being the moment.

MASSAGEE: Yes.

GUPTA: But they had done a biopsy before.

MASSAGEE: Yes.

GUPTA: And it's almost as if they said we did the biopsy, we're not going to go down that path anymore. They need to do it again. What's the lesson in there for patients who may be in a similar sort of position?

MASSAGEE: To have the tenacity and endurance to keep trying and keep looking, and to listen to the doctors and do what they said. I remember one of the doctors coming in and saying I had a patient who was diagnosed on his fifth muscle biopsy. You know, I think what he was saying to me was, we have to look different places and different times and I trusted him. So, there are several lessons there. One is, you know, to keep trying and keep looking. And one is to listen to the doctors and do what they suggest.

GUPTA: And you are a real proof of that. Just to point as well, you look great.

MASSAGEE: Thank you.

GUPTA: I saw a -- you had another big moment today?

MASSAGEE: Yes, I was able to put my wedding ring on for the first time since January 2008. Things continue to get better.

GUPTA: Because just the muscle was so swollen.

MASSAGEE: That's right.

GUPTA: It's the first time.

MASSAGEE: Right.

It's a beautiful ring, by the way.

MASSAGEE: Thank you. Thank you.

GUPTA: Buddy did a good job.

MASSAGEE: He did. He did. In many, many ways.

GUPTA: So great to see you in person here.

MASSAGEE: Thank you.

GUPTA: And you look great.

MASSAGEE: Thank you.

GUPTA: And I'm so glad. Hopefully things will continue to go well. A lot of patients are going to benefit from what you've been through.

MASSAGEE: I would be very happy for that to be true. It would be so nice for this experience to benefit other people.

GUPTA: Thanks, Sally.

MASSAGEE: Thank you.

GUPTA: Thanks for being here.

(END VIDEOTAPE)

GUPTA: You know, there's a couple of things I want to say. First off, this has been an incredible story to report. It's been amazing to see Sally get the answers she so desperately hoped for and to get her so much better over the last year. But as a father of three young daughters, I have to tell you it was really hard to watch Kylie and her parents go through the agony of not knowing what's making Kylie so sick. And after all they've been through, they still don't know. It's an important point.

And what you've seen this hour has never been seen before. Kylie's disease is a true mystery. So I think it's safe to say that the doctor detectives at the UDP have a long ways to go still in terms of exploring what might be causing these problems with Kylie. Some of that is going to be looking at that DNA evidence and everyone in her family seeing if they find some anomalies. That mutation they found was an amazing discovery. It could be describing an entirely new disease.

A few years from now we could be talking about Kylie's disease as a result of what's happening right now at the UDP. It could be called Kylie's disease if they ever solve this mystery. That's how medicine transpires. That's how science advances and hopefully that's how Kylie gets treated.

That wraps up this special hour. Thanks for watching "Doctor Detectives."