>> i'm dr. sanjay gupta. over the next hour, i'm 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. 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. why was his body producing a

freakish amount of kidney stones, an extremely painful 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 diagndiagnosis. but now there's a place to go. the undiagnosed diseases program at the national institutes of health. for patients who are accepted, it's a chance, how ever slim, to finally get a diagnosis, possibly even a cure. we've been working on this report for more than a year. as a doctor, i've got to tell you what we found was fascinating. at the udp, the doctors pool 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'll 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." >> reporter: bethesda, maryland. deep inside the sprawling complex, dr. william gall leads an elite team of doctors, specialists and researchers. they are the best in the world. >> she often turns this foot in. >> reporter: together they focus their vast expertise to try to save patient's lives. >> looser. >> reporter: they are detectives in search of clues to solve mysteries no other doctors could solve. >> 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 of the -- the most challenging cases of all.

>> we expect a high failure rate. we expect a success rate of 10%, 15% or so. >> reporter: but 10% or 15% is a bright ray of hope for some patients. >> how much more you can do physically really speaks volumes. >> yeah. >> reporter: 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. so this is sally's mri of the brain. that's incredible. >> even the muscles that govern the movements of the eye, which are really small muscles, are huge. the knew row radiologist saw this and sort of went wild over this. look at the size of those. they're three to four times bigger. >> they probably really had never seen anything quite like this. >> right. because there's no way to make those muscles big by moving your eyes a lot. it's not like lifting weights, so why would they be that big?

>> reporter: 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. >> 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. >> reporter: how serious is kylie? >> well, she's, i would say real serious. i think that she has a disorder that will threaten her life. it is essentially the issue here. we're sort of racing against time. >> reporter: the undiagnosed diseases program was launched only two years ago at nih. it accepts only the rarest of medical cases. >> this is saying, when you hear hoof beats, think of horses not zebras and i say but if you hear horse beats in africa or the

nih, it's probably a zebra. >> reporter: it's not only about saving lives. here they're also hoping to discover new diseases and create new science. >> it's really sort of the inspiration that we all have as clinical researchers. >> reporter: in two years, the udp has had more than 3,000 inquiries. >> this is an accept ansz letter. >> reporter: udp has accepted a little over 300 patients. >> you have to tell a lot of people no. >> we do. yes. >> reporter: seems like that would be hard. >> 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. >> reporter: 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. >> she was above average on everything. i mean, she could say her abcs when she was like 18 months old. >> reporter: then at 3 1/2, 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 the voice tremor. >> i have to eat. i have to do shots. >> reporter: then kylie had a seizure. by the time she turned four, her face started to twitch. >> does your face feel funny? >> no. >> reporter: the first day you sort of realized there was something that was not right with her, because she was this precocious child, zooming past all the milestones and everything, because you're a parent now and trying to figure out, is this just me being overly sensitive -- >> i was told that. i was looking for things that

weren't there. it's just really hard. it's -- i don't know. >> we actually spent a lot of time videotaping her when we saw the little things that started happening because no one believed us. >> do you know when your birthday is? >> the 1st. >> good girl. >> reporter: the twitching soon 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. >> at this point, i didn't know if i should plan for her to go to kindergarten or if we should plan a funeral. >> reporter: sally massagee's mystery did not begin until later in life. she was in her late 40s when her muscles began to grow out of control. >> do you remember looking at her chart for the first time? >> yes, i do. this was referred by an end

dough corinne not at duke. and the endocrinologist said in my 38 years i've never seen a case like this. something like that. okay? that's sort of impressive. what does that mean? well, when you see a picture, then, that's pretty impressive. >> reporter: like all the patients selected for the undiagnosed diseases program, sally and her husband and kylie and her mom and dad would come to the nih for a week of exhaustive and complex tests. where i medical strike force was trying to save their lives. >> i went in there in hopes of finding an answer. >> this is our last hope but at the same time, we finally made it to the people that are going to find out what's wrong. >> 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 gruelling 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. >> it's hard. it's really hard. but hopefully it's for a good cause. [ male announcer ] prilosc traveled to fairbanks, alaska. home of one of the coldest, longest nights on the planet. and asked frequent heartburn sufferers, like carl, to put prilosec otc's 24 hour heartburn protection to the test for two weeks. the results? i can concentrate on everything i'm doing, not even think about it anymore. since i've been taking it, i've been heartburn free, which is a big relief for me. [ male announcer ] take your 14-day challenge. ♪ prilosec otc. heartburn gone. power on.

in 2008 i quit venture capital to follow my passion for food. i saw a gap in the market for a fresh culinary brand and launched behindtheburner.com. we create and broadcast content and then distribute it across tv, the web, and via mobile. i even use the web to get paid.

with acceptpay from american express open, we now invoice advertisers and receive payments digitally. and i get paid on average three weeks faster. booming is never looking for a check in the mail. because it's already in my email. kylie mcpeak was sick and getting sicker. her parents had spent nearly two years with specialists. >> perfect. >> reporter: no one could diagnose what was happening to kylie. her voice tremored the twitch that's were convulsing the entire right side of her body. >> i'm a bad parent. i feel like, why can't i help my kid? so -- >> can't really put it into words. just helpless.

>> reporter: dr. william gall is chief investigator at udp, the undiagnosed diseases program at the national institutes of health. >> i remember vividly the first time i met her by video. it was at one of our udp board meetings. >> can you smile for me? >> 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, you know, terrible occurrence. >> reporter: last year, kylie was accepted into the program. >> anywhere is going to find answers, it will be here. these are the best of the best. >> reporter: a mysterious force was also assaulting sally massagee's body. at 53, a wife and a mother of five, her muscles were growing out of control. she was in excruciating pain. she, too, was accepted to the undiagnosed diseases program.

>> i felt certain that if there wasn't a diagnosis, i felt like it was pretty certain that it would kill me. >> reporter: sally's husband, buddy. >> 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. >> reporter: no one could offer an explanation for what was happening to sally. the medical s.w.a.t. team of doctors and specialists as the undiagnosed diseases program quickly ruled out one possibility. >> bottom line, bones are not involved, it's not acromegaly, it's just confined to the muscle. what in the world could this be? >> reporter: that's always the question here. kylie and her parents made their way from reno, nevada, to bethesda, maryland, and the nih in hopes of finding out what in the world could be wrong with kylie. do you want to know what's going on with kylie if the next sentence was, but there's nothing we can do about it? >> yeah. >> reporter: why?

>> just it's -- 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. >> reporter: kylie will undergo a week-long series of complex tests and evaluations by top medical specialists at nih. ♪ twinkle, twinkle, little star ♪ >> reporter: it's physically draining for everyone. and for kylie's mom and dad, emotionally wrenching. the week is intense. >> i don't think anybody's seen anything quite like kylie. this is a very complex case, and could be difficult to solve. >> clearly on the right leg, see a lot of movement here. the right foot sort of the foot is turned inward. they call that dystonia, or abnormal tone. a lot of tone in these muscle groups over here. left side has it a little bit as well, but not, not quite as bad, although there's that constant

moving going on. can you see it in the feet, you can see it in the hands, you can see it in her eyelids and clearly in her voice. >> reporter: dr. gall and his team look at everything for clues. >> something curious about, what happens with sleep? >> oh, it stops when she sleeps. >> reporter: it stops when she sleeps. that's a really important clue. >> very important. yes. >> reporter: kylie's tests begin in early morning. >> beautiful. can i tell you something? you are all done. >> good job. >> reporter: and go late into the night. >> say baby boy. okay. kitty cat. >> it's hard. it's really hard. but hopefully it's for a good cause. >> reporter: in the hallways, specialists hold meetings on the fly, throwing out new theories,

hoping something they've learned fits into the bigger puzzle. and a single diagnosis. >> a lot of unanswered questions. absolutely. >> reporter: this idea that so many of the patient that's 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 you're going to get the answer. >> that's right. >> reporter: are the expectations pretty high? >> 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, you know, lowered expectations. it's part of our job to make sure that expectations are appropriate, aproper ritly lowered compared to what most of the patients come in with on mondays. >> reporter: sally massagee knew what she was doing there. >> i took that disclaimer and i heard it, and i still clutched a strong dose of hope. >> reporter: but will sally's hopes for a diagnosis actually pan out or will they be crushed? coming up, we'll show you the

exhausting week of testing she went through, and some important clues doctor detectives uncovered. as for kylie, will the clues she gave up be enough to identify the disease that's killing her? it's a difficult and emotional week that wraps up for the mcpeak family. >> it was just, i think, too much for me at that exact moment. >> it scared me because i didn't want it to be the end. sure i'd like to diversify my workforce,

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whole lot of time in the gym. >> reporter: 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. >> 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. >> reporter: she'd seen countless medical specialists. no one had an explanation. that's why dr. william gahl and his team of specialists at the undiagnosed diseases program was trying to solve the mystery. this is super impressive. >> look at these things.

>> reporter: you literally see a cleavage right in the middle of her back because those muscles are so big. dr. william gahl is the program's lead investigator. when you see these pictures, they are pretty incredible. did you think steroids? >> sure. we pretty much all saw it except 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 we would naturally think about. >> reporter: during a week of intense tests, there are scans. blood work. an examination of everything going on inside sally's body. >> so this is sally's mri of the brain. that's pretty incredible. >> reporter: 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 radiologist saw this and sort of went wild over this. look at the size of this, they're three to four times bigger. >> reporter: they've probably never seen anything like this. >> right.

because there's no way to make those muscles big by moving your eyes a lot. it's not like lifting weights. so why would they be that big? >> reporter: it's a clue. it suggests something inside the muscle itself. so the udp team took a sample. you took some muscle from her arm. >> 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% sure we should do this. we were like 70%, 80% sure. >> reporter: 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. in medicine, it's striking that it's 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's totally different. >> it's true. this is a different paradigm. so this to me is the perfect amalgam of the training in knowledge, you know, having acquired a certain fund of knowledge and applying it to cases that are not yet solved. so i find that extremely stimulating. >> reporter: 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 busle. 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. 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. >> i think things are structurally pretty normal, so it's some sort of wiring problem that's not visible. >> reporter: an elect throw ensef low gram, or eeg, shows kylie's brain is symmetrical, which is positive news. but there are these spikes of activity.

>> very symmetrical. >> reporter: they could point to epilepsy partiala continuea. >> we don't have an understanding of the underlying mechanism that's brought it on. >> yeah. this will help it not hurt. >> reporter: by friday, the tests are complete. 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. >> they might have some things back from that. so it's exciting and i'm nervous. >> so we want to document that for her. >> reporter: but the doctors have no diagnosis. >> working all sorts of things that have yet to come back for us to consider. >> reporter: instead they explain how the results will guide their investigation. >> we continue to work together on this. >> reporter: for kylie's mom and dad, gina and steven, the

emotional toll of the week is just so overwhelming. >> 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 of this program. >> it was just i think too much for me at that exact moment. >> it scared me, because i didn't want it to be the end. >> reporter: 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. >> maybe some day we'll get that phone call, hey, we think we might know what it is. >> reporter: so no diagnosis yet for kylie. it's 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 sally gets the best possible news ever. a diagnosis. her medical cold case is solved. >> it was 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? so i was thrilled. it may be a tough diagnosis but it is a wonderful one for me. where other hammers can only dream of going,

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but we've actually done it. [ male announcer ] visit ameriprise.com and put a confident retirement more within reach. i'm joe johns. sanjay gupta reports "doctor detectives" continues in a moment, but first this 360 bulletin. the michigan assistant attorney general who is under fire about his blog post on an openly gay student has taken a leave of absence and andrew shirvell faces a disciplinary hearing when he returns. he sharply attacked the president of the student assembly calling him a radical, racist and liar. armstrong is pursuing legal action against shirvell. president obama has lost his

right hand man rahm emanuel, he stepped down as white house chief of staff. >> the last 20 months, rahm has exceeded all my expectations. it's fair to say 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. >> rahm emanuel is expected to run for mayor of chicago. he's being replaced temporarily by pete rouse. closing arguments today in the murder trial of steven hayes, the first of two to be tried for a home invasion in connecticut, accused of killing jennifer hawke-petit and her daughters in 2007. hayes could face the death penalty in convicted. his accused accomplice will be

tried separately. deadly flooding from the carolinas to the northeast has caused at least eight deaths, including six in south carolina. many people had to be rescued from their homes in boats. water is six or seven feet deep in many homes and businesses. rescuers in chile believe they may reach the 33 trapped miners later this month, rather than in november. that's because they've successfully tested a rescue caps skpl drills are cutting ever closer to the miners who have been stuck in the mine since august 5th. i'm joe johns. sanjay gupta reports continues in a moment.

tonight we're bringing you a special report. "doctor detectives." we spent more than a year following the stories of two patients, 6-year-old kylie, and sally, a mom. they were both very sick and 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'd 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've got to crack a case that has stumped every doctor before you, you need to think outside the box. you need to work together. that's the premise of udp. would it all work for kylie and sally? 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. >> it became increasingly difficult just to walk. at some point i knew if it continued it would kill me. >> reporter: 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. >> we do liken it to detective work, but remember, a lot of the detective work takes place after the patients have gone. >> reporter: after five days, the patients go home. and despite the odds against success, they are less desperate. >> i took that disclaimer and i heard it and i still clutched a strong dose of hope. >> reporter: what would be months of an exhaustive search for clues to solve sally's

mystery was just now beginning. >> bones are not involved, it's not acromegaly, it's just confined to the muscle. what in the world could this be? >> reporter: it's also what everyone is asking about 6-year-old kylie mcpeak. >> how are you doing today? >> reporter: shortly before her fourth birthday, the mystery began. something was attacking her body. >> i have to eat, i have to do a shot. >> reporter: how serious is kylie? >> well, she's, i would say, real serious. i think that she has a disorder that will threaten her life is essentially the issue here. we're sort of racing against time. >> reporter: kylie has already

been at the udp for a week. dr. gahl and his team have been sifting through all the data they've amassed on her. do you have a diagnosis for kylie? >> no, but we have a few good leads. >> for a while they suspected a rare disorder that affects the brain's motor strip. but 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. >> well, you try to differentiate whether this is something that was genetic or something environmental, in other words, what happened to her. really that's the dichotomy here. >> reporter: that's sort of the first step for everybody. genes or the environment. >> pretty much. and sometimes you can get at one or the other of those more easily. >> reporter: 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. >> is it possible it's truly something that's never been described before? >> it's very possible. >> reporter: brand-new. >> brand-new mutation and maybe

identifying a gene that is not known previously to cause a human disease. >> reporter: 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. >> i'm scared that they might not find something in time and the reality is, they might not find anything, but if they're still looking and they haven't given up, that's kind of like someone's on your side. >> maybe some day we'll get that phone call, hey, we think we might know what it is. >> reporter: 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. >> 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, because we fail so often. >> reporter: but not always. luckily for sally massagee, the experts at the udp solved her mystery. >> i expected miracles from them and they gave them to me. >> reporter: the tissue sample they took from sally's muscle hit the jackpot. in the red staining of the biopsy, scientists at the udp

found the presence of amyloid, abnormal protein that's cool from cells in the bone marrow. >> that was a huge hit for us. >> reporter: mystery solved. the diagnosis? amyloidosis, a rare disease in which proteins deposit themselves in a patient's organs or tissues. 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. >> you get mysteries 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? >> yeah. yeah, it is. >> reporter: that's got to be a pretty good feeling. >> oh, it was the best. basically it's sort of justifies our existence. >> reporter: but for sally, a diagnosis meant only that now she had a chance for survival. there is no cure for this

disease. >> it was 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 was a wonderful one for me. just to have one. >> reporter: in june of last year at the mayo clinic, she underwent kpeem chemotherapy and a stem cell transplant in the fight of her life. >> there were times in the process where i thought it was real possible i would die. >> reporter: today, sally massagee is far from 100%. >> every day she's 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. >> reporter: sally and her husband, buddy, recently returned to the mayo clinic for her yearly checkup. >> so it doesn't get much better than this, really. ♪ i see trees of green >> reporter: 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.

>> i was cooking last week one night in the kitchen and everybody was around you, and lewis 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 nih. they not only found it, but they found it just in time. ♪ and i think to myself what a wonderful world ♪ >> reporter: she was dead and 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's going to join me 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 haven't given up on her case.

not by a long shot. their investigation continues. we'll tell you have the latest just ahead. [ male announcer ] you are a business pro. lord of the carry-on. sovereign of the security line. you never take an upgrade for granted. and you rent from national. because only national lets you choose any car in the aisle. and go. you can even take a full-size or above. and still pay the mid-size price. i deserve this. [ male announcer ] you do, business pro. you do. go national. go like a pro.

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visit prilosecotc.com. prilosec otc. heartburn gone. power on. we've shown you the exhausting and emotional journey both sally and kylie have gone through as the doctors at the undiagnosed diseases program tackle their medical mysteries. for kylie the journey continues. unfortunately her case is pretty much where it was when we last saw her. there have been no advancements. but the doctor detectives say they're not giving up, they're still exploring every option.

remember that crucial mutation in kylie's dna? it can still help solve her mystery some day. she graduated kinder gart and not started first grade this fall. she's also once again a big sister. her parents gina and steven are enjoying being home together as a family. they haven't given up hope that kylie one day will get a diagnosis. as for sally massagee, she's one of the big udp success stories. against 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 which have made a huge difference in her health. her muscles are not growing out of control, in fact they're getting smaller. slowly she's getting back to her old life. i spoke to her earlier, and first thing i noeltsed, she's literally glowing. it's remarkable to see. since we last saw you, how are you doing now? >> i feel great. i'm feeling really strong, really good, and i continue to feel better every several days. >> people saw those images and how big the muscles had become, but what did it -- what did it

feel like? was it painful and were you able to do the things you wanted to do in terms of movement? >> no, i was very impaired and increasingly impaired. 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 weak i couldn't put on earrings, because i couldn't reach up that high to -- and hold my hands up there that long. i couldn't -- it was difficult to stand, to fix dinner. >> just everything.

>> everything was increasingly difficult. >> was it worse during the day or night? trying to sleep? >> you know, i wasn't able to function normally at any time. >> how about pain? were you having pain -- how did you control it? >> it was very painful. i don't know the condition itself was so painful but i think mechanically what it did to my body, 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 they would fatigue very, very quickly. >> that's a misconception. people thought you were actually stronger but you were in fact weaker and less mobile. >> the muscles would fatigue very quickly. >> when dr. gahl told you when you came in the chances were remote that they were going to figure this out, 85% to 90% chance they wouldn't figure it out, what did you think when you heard that? >> i heard it and i understood it. and my memory was that what they said was 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 workaround, 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 okay. >> so might be able to offer treatment even without a diagnosis. >> right. >> this was going on for a long time. >> yes. >> you look at yourself in the mirror, you'd see the physical changes. >> yes. >> we talked about that. emotionally, how are doing? i mean, let me just add, was there a vanity part to this? you're changing -- >> 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 was very difficult to see myself get heavier and

heavier and bigger and bigger. it was difficult when i looked just like a compulsive weight lifter 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. >> really, couldn't even leave the house. >> walk through the malls. i couldn't get in from the parking lot and walk through the store. >> 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 race on the clock. she had some great advice. that's just ahead. in 2008 i quit venture capital to follow my passion for food. i saw a gap in the market for a fresh culinary brand and launched behindtheburner.com. we create and broadcast content

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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's wrong. for the patient of course it's terrifying. 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. we know that if this had gone untreated, undiagnosed and untreated, it's a fatal problem.

>> yes. >> it would have killed you. >> yes. >> did you ever think about that? >> oh, yes, i was sure 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 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 thought that it might be. and it was sad and frightening and it was very -- it was the hardest was knowing the pain i was giving my kids and husband because they love me so much. and they had those same fears, you know? >> i can't imagine, you know it's happening and there's nothing can you do about it. >> nothing.

>> and you went to the best places. >> yes. >> and you kept hearing the same thing. >> yes. >> we don't know. >> right. >> at some point you must have just wanted to scream. i mean, you have certain expectations i guess as a patient. >> 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 for keeping trying and it certainly wasn't that they weren't trying with every ounce of energy and ability that they had. >> right. the, you know, when you finally ended up at the nih and they did this biopsy again, which ended up being it. that ended up being the moment. >> yes. yes. >> but they'd done a biopsy before. >> yes. >> it's almost as if they said, we did the biopsy, we're not going to go down that path, they needed to do it again. what's the lessen in there for patients who may be in a similar situation? >> to have the tenacity and endurance to keep trying and looking and 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. i think what he was saying to me was, we have to look different

places at different times. and i trusted him. so there's 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. >> and you are real proof of that. i should point out as well, you look great. you had another big moment today. >> yes. i was able to put my wedding ring on for the first time since january of 2008. things continue to get better. >> because there's just a muscle so swollen. it's a beautiful ring, by the way. >> thank you. thank you. >> buddy did a good job. >> he did. he did, in many, many ways. >> so great to see you in person. >> thank you. >> and you look great, and. >> thank you. >> i'm so glad. hopefully things will continue to go well and a lot of patients will benefit from what you have been through. >> i would be very happy for that to be true. it would be so nice for this experience to benefit other people. >> thanks, sally and thanks for being here. >> thanks. >> you know, there's a couple

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 desperate will he 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 going through what's making kylie so sick. and after all they'd been through, they still don't know. it's an important point. 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's 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.