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Video: Baffling ailments go undiagnosed

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    MATT LAUER, co-host: We're back at 8:12. And this morning we're kicking off a new series, TODAY'S MEDICAL MYSTERIES ; medical cases so rare and complex, experts don't even have names for them. Dr. Nancy Snyderman is NBC 's chief medical editor. Nancy , good morning to you.

    Dr. NANCY SNYDERMAN reporting: Hi, Matt. It's tough when patients don't fit into sort of a neat symptoms box, so the National Institutes of Health has started a program accepting only the toughest, most unique cases; that in hopes of diagnosing and ultimately treating very real-life medical mysteries . It could be a plot from the hit TV show " House ."

    SNYDERMAN: A mysterious growth appears on a young woman 's jaw and lungs, triggering years of pain and unexplained health problems . But at the NIH 's undiagnosed diseases program it's science, not fiction. Here experts, researchers and technicians team up to solve medical mysteries .

    Dr. WILLIAM A. GAHL (Director, Undiagnosed Diseases Program): The patients that we see have been through the mill. They've been through the medical system and haven't been able to get an answer.

    SNYDERMAN: Kelly Klodzinski has spent eight years waiting for an answer.

    Ms. KELLY KLODZINSKI (Undiagnosed Disease Patient): Every doctor I've ever been to has just been puzzled. And it's hard knowing that there's not really a set treatment for what I have.

    SNYDERMAN: As a teenager, a tiny sore in her mouth grew so big that her jaw clenched shut. That was just the beginning. Mysterious lumps in Kelly 's lungs, fluid on her heart , her kidneys started to break down. Kelly 's doctors in Louisiana kept her alive with steroids and morphine while they puzzled over the clues.

    Dr. SAMINA HAYAT (LSU Health Sciences Center): She was seen by a pulmonologist, a cardiologist, infectious disease and hematologist/oncologist, and nobody had a definite diagnosis what disease she had.

    SNYDERMAN: Making her a perfect candidate for the medical detectives at the NIH .

    Ms. KLODZINSKI: I don't have insurance . We don't have the money to, you know, travel the world to find all the best doctors. So when I found out that someone was actually interested in finding out, like, what's wrong with me, I was just -- I was just so happy.

    SNYDERMAN: The program admits three to four patients a week and pays for everything.

    Dr. BERNADETTE GOCHIUCO (Pulmonologist/Attending Physician): Diagnosis may be helpful in terms of knowing how to treat that patient sort of over the long-term and over the short-term.

    SNYDERMAN: This is Kelly 's second visit to the NIH . Her husband and twin sister , Kimberly , are by her side for a battery of tests. There's a bronchoscopy, an MRI and an endoscopy, yet no diagnosis .

    Dr. GAHL: I don't think this is the last time we're going to see you. ere. You're going to have to look at our faces more.

    Ms. KLODZINSKI: Well, I like y'all.

    SNYDERMAN: They extend Kelly 's stay to remove cells from her jaw for analysis. After one more week, it's time to say goodbye for now.

    Dr. GAHL: So you're going to be able to go home without so much pain. That gives us a little bit of breathing room , some time to figure out what to do to try to treat this growth.

    SNYDERMAN: Months later, Kelly 's doctors are still on the case. The detective work continues and a new treatment is prescribed for Kelly in hopes that it adds new pieces to the puzzle.

    Ms. KLODZINSKI: It would be nice to have a diagnosis , but I don't know, there probably won't be one. But just knowing there's something that could actually help it would be great.

    SNYDERMAN: Since its creation in 2008 , the Undiagnosed Diseases Program has diagnosed about 10 percent of the 140 patients it has admitted. Matt :

    LAUER: All right.

    SNYDERMAN: It's a beginning.

    LAUER: Yeah, it really is. Nancy , thank you very much . Kelly Klodzinski is with us, along with her husband, Chris . Nice to have you both here.

    Ms. KLODZINSKI: Thank you.

    LAUER: How are you feeling?

    Ms. KLODZINSKI: Pretty good today. Today's a good day.

    LAUER: Still on steroids, morphine, things like that?

    Ms. KLODZINSKI: Yes. Yes.

    LAUER: You went back to the NIH , I think it was last month, and they started to give -- they gave you a drug that's normally used for rheumatoid arthritis, lupus and malaria. It's early...

    Ms. KLODZINSKI: Yes.

    LAUER: ...but are you starting to see some benefits from that drug?

    Ms. KLODZINSKI: Not so far. But they said that it could take, you know, a couple of weeks , a couple of months to actually know if it's going to do anything. So they plan on having me back in March and they're going to do some reimaging and hopefully find a positive response.

    LAUER: Young lady , you've been through a lot. I mean, I just want to go

    through some of your symptoms: inflammation in your heart , mysterious cysts in your jaw. You had to plan your wedding to Chris from a hospital bed. And still , they can't come up with a name or a diagnosis . How frustrating is that?

    Ms. KLODZINSKI: It's very, very frustrating. I mean, people ask me every day, you know, ` What's wrong with you? What do you have?' And I don't have an answer. I tell them, `Well, it's undiagnosed.' And they, `Well, what do they call it?' And I 'm like, `I don't know. They don't know, they don't have anything to call it.'

    LAUER: And, Nancy , I mean, you know, we assume -- medicine has come so far. We just assume they can figure almost anything else -- out. " House ," that show we talk about, they figure it out by the end of the episode.

    SNYDERMAN: Right. Right.

    LAUER: And here you can't figure it out.

    SNYDERMAN: No. Look , not everything fits into a neat package, and that's what's very frustrating for a patient and it's just as frustrating for physicians. But sometimes Mother Nature has sort of a different plan, and things, constellation of symptoms don't fall into one package. Which is why they have 25 doctors, they have the resources of people around the globe. There will be someone else out there like this and they'll start to put the pieces together.

    LAUER: But they've started an experimental treatment with Kelly .

    SNYDERMAN: Right.

    LAUER: And yet, they still don't have a diagnosis . So is the diagnosis even all that important?

    SNYDERMAN: So you start -- well, it is, because you want to start to say `Oh, I've seen this before,' and you want to start linking cases around the world. But when a patient has real symptoms, sometimes doctors are better off to treat the symptoms and wait for the diagnosis to come secondarily. It's frustrating, though, for everybody.

    LAUER: Chris -- and, Chris , watching your wife go through this, I mean, you just want -- must want some sort of definitive answers.

    Mr. CHRIS KLODZINSKI: Yeah.

    LAUER: And they aren't coming.

    Mr. KLODZINSKI: Yeah.

    SNYDERMAN: And he married her knowing she'd already been diagnosed with something.

    LAUER: Right.

    SNYDERMAN: There aren't a lot of guys who would do that.

    LAUER: And what stuck out to me here, Kelly , is your twin sister , Kimberly , has none of these same...

    Ms. KLODZINSKI: None of it.

    LAUER: None of it at all. And she's been tested and...

    Ms. KLODZINSKI: Perfectly healthy, mm-hmm.

    LAUER: You're going -- you said you're going back to NIH in March ?

    Ms. KLODZINSKI: Yes.

    LAUER: Did they tell you what to expect?

    Ms. KLODZINSKI: Like I said, they're just going to reimage. They did a lot of kind of before imaging.

    LAUER: Right, so they can do some comparisons.

    Ms. KLODZINSKI: They're going to do some before and after , so they're going to compare to my previous scans and hopefully find a positive response.

    LAUER: Real quickly, I know they kind of forced your jaw open. Are you able to eat solid foods now?

By
TODAY contributor
updated 1/14/2010 10:09:50 AM ET 2010-01-14T15:09:50

For eight years, Kelly Klodzinski has lived through a medical hell. Her jaw clenches so tightly that she can’t eat a peanut butter sandwich; she has an inflamed heart that often makes it difficult to breathe, much less walk; and she spends so much time in hospital beds that she’s on a first-name basis with staff at seven or eight clinics.

Thankfully, though, Klodzinski is now part of a groundbreaking new program: At a clinic in Bethesda, Md., she is examined by some of the leading minds in medicine, who aren’t rushed because they only see three or four patients a week. And the charge to Klodzinski for such acute care? Not one red cent.

There is a catch, however: Patients like Kelly have to be sick, really sick, to be admitted. And what’s more, those patients have already had to suffer through years of medical maladies that don’t even have a name.

That’s the mission of the Undiagnosed Diseases Program, created by the National Institutes of Health in May 2008. And even though it sounds a bit like the medical-mystery TV show “House,” the doctors caution their work can’t be tied into a neat bow in the space of a one-hour episode.

Mysterious symptoms
Still, for Klodzinski, being treated at the UDP clinic is the first light of hope she’s seen after eight years of medical darkness. The young Louisiana wife — focus of the first of a two-part series examining medical mysteries on TODAY — has seen her body steadily break down in many ways, with doctors unable even to give her a diagnosis, much less cure her.

Appearing live on TODAY Thursday, Klodzinski told Matt Lauer she feels like a medical orphan: Concerned friends don’t understand that she suffers from maladies that have no name.

“It’s very, very frustrating,” she told Lauer. “People ask me every day, ‘What’s wrong with you, what do you have?’ And I don’t have an answer; I just tell them it’s undiagnosed. And they will say, ‘Well, what do they call it?’ And I say, ‘I don’t know, they’ve don’t have anything TO call it.’ ”

TODAY
A growth on Kelly Klodzinski’s jaw was the first of a series of apparently unrelated symptoms to plague her.
Klodzinski’s health began deteriorating at age 15, when a small sore in her mouth grew so large it made it impossible to open her jaw more than a fraction of an inch. It was followed by serious but seemingly unrelated health issues: inflammation in her heart that left her struggling to walk, nodules forming on her lungs and an enlargement of her right kidney.

She’s been in and out of hospitals ever since, and she sometimes has as many as four doctor’s appointments in a week. She’s been looked at by pulmonologists, cardiologists, hematologists and oncologists. Klodzinski has undergone multiple surgeries, one of which she barely survived. But all the while, well-trained doctors have been unable to pinpoint the root cause of her health dilemma.

Now, with treatment at the UDP clinic, Klodzinski told TODAY she can finally see some progress in turning her health crisis around, even if she’s been down the road with doctors too many times to be totally confident.

“It would be a pretty big deal to get a diagnosis after eight years,” she said. “I would be in shock if [they] told me, ‘This is what you have.’ If I could just get some treatment options, how to keep it under control, how to keep it from flaring up again, that would be great.”

Not like ‘House’
The novel program undertaken by NIH can be called forward-thinking; just don’t call it “House” in the presence of Dr. William A. Gahl, one of its founders. “That’s entertainment — we’re not here for entertainment in any respect,” Gahl told TODAY. “That program essentially solves that problem, that story, within an hour. The whole premise is completely unrealistic and completely off track, and it’s intended to be drama. I think also, someone who has Dr. House’s personality characteristics would never be permitted to handle patients or would have his license taken away.”

TODAY
Despite eight years of examinations by an array of doctors, there is still no diagnosis for Kelly Klodzinski’s symptoms.
Klodzinski told TODAY she knows she’s in better hands with the experts at the UDP clinic, and counts herself lucky she was accepted into the program. Since opening, the clinic has sifted through some 2,100 inquiries and accepted only 140 patients thus far.

Klodzinski feared she wouldn’t be accepted, believing “there were probably a lot weirder cases,” but says she feels like she’s finally found the right place for treatment.

“It’s weird because it’s like, ‘Do I really have the disease that nobody knows what it is?’ Klodzinski told TODAY. “I go to the hospital and there are so many sick people there and they all know what’s wrong with them. What’s so weird about my condition that they don’t know what it is or what doctor to send me to?”

Unrelated ailments
Gahl said the intriguing mystery with Klodzinski is that she suffers from multiple maladies, with one not necessarily being related to the other. She shows signs of ascites (free fluid in her abdomen), pericarditis (inflammation of her heart covering) and hydroneophrosis (enlargement of her kidney), along with mouth cysts that cause her jaw to become inflamed.

“It’s possible [she] has a genetic disorder,” Gahl said, and if “we could find the gene that is responsible and relate mutations in that gene to her symptomatology, [it would be] a great outcome for us and for the profession, too.”

Another one of Klodzinski’s physicians at UDP, pulmonologist Dr. Bernadette Gochuico, said, “Kelly is very unusual, and she’s challenging. We are doing some detective work in that Kelly has something that has not been described before, and we’re trying to identify for the first time what may be causing her disease.”

Klodzinski told Lauer she’s taken steroids and morphine for years, but the UDP clinic has put her on a new drug normally used to treat rheumatoid arthritis, lupus and malaria. She began taking the drug in December, and is due back at the clinic in March to see if it’s helping.

Symptoms first, diagnosis later
Appearing with Klodzinski on TODAY, medical correspondent Dr. Nancy Snyderman says it is good medicine to try to make Kelly feel better first, then figure out the root cause for all that ails her. “When a patient has real symptoms, sometimes doctors are better off to treat the symptoms, then wait for the diagnosis,” she said.

Snyderman also lauded the NIH program for bringing together experts from various fields. “Not everything fits into a neat package; sometimes Mother Nature has a sort of different plan, and the constellation of symptoms don’t fall into one package,” she said.

TODAY
Klodzinski told TODAY that she feels ‘pretty helpless’ and still has her dark days but she's optimistic since getting accepted into the UDP clinic.
Klodzinski told TODAY her spirits are somewhat buoyed by visiting the UDP clinic, but she still has her dark days. Recurrence of severe symptoms forced her into a hospital bed last year and made her have to plan her wedding while lying on her back.

“It’s kind of scary,” she said, “especially when it first started happening. I’m never really happy that I have to take steroids to live, basically. I don’t like knowing that without a little pill every day there’s a possibility I might die. I feel pretty helpless, and it is hard knowing that no one has really gone through the same disease process as I have.”

Still, getting accepted into the UDP clinic allows her to see doctors she would never have been able to afford otherwise. “I don’t have insurance; we don’t have the money to fly around the world,” she explained. “When I found out someone was interested in finding out what was wrong with me, I was so excited.”

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