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In Rare Disease, Light Is The Enemy; People With Angelman Syndrome Are Missing Part Of Their 15th Chromosome, Resulting In Handicaps; Face Transplant Patient Appearing In Public; Childhood Obesity In Texas Border Town

Aired February 11, 2006 - 08:30   ET


BETTY NGUYEN, CNN ANCHOR: Now in the news, Israeli prime minister Ariel Sharon is out of emergency surgery. That word coming down just about 35 minutes ago from Hadassah Medical Center in Jerusalem. Doctors acted quickly after finding part of Sharon's digestive tract had suffered serious damage. This is Sharon's seventh surgery since he had a stroke early last month.
TONY HARRIS, CNN ANCHOR: Protest over cartoons depicting the prophet Mohammed spread to London today. British Muslims gathered in London's Trafalgar Square. Organizers say they hope to counter and condemn the violence that has erupted at similar protests around the globe. 11 people have died and several embassies have been burned in nations with significant Muslim populations.

NGUYEN: Italy's health minister says the deadly strain of bird flu has been detected in swans from three regions of the country, but no human cases of the H5N1 infection have been reported. The Italian ministry is looking into what precautionary measures can be taken to limit the spread of the virus.

HARRIS: Earlier today, adventurer Steve Fossett passed the point of no return. He decided to try to complete his nearly 27,000 mile journey in an experimental plane. Fossett is going for the aviation distance record, despite a tight fuel supply. If all goes well, he'll touchdown in Kent, England, outside of London later today.

Those are the headlines. HOUSE CALL begins right now.

SANJAY GUPTA, CNN SENIOR MEDICAL CORRESPONDENT: Good morning and welcome to HOUSE CALL. I'm Dr. Sanjay Gupta.

Today, we're going inside the lives of people with rare disorders. Now to be defined as a rare disease, fewer than 200,000 Americans must be affected. While few people live with each individual disease, the number of Americans collectively diagnosed with rare disorders is shocking.

And because they are rare, these diseases usually don't get much attention. They don't get much money. And they don't have much research. We're going to start today with a story of a little girl for whom light has become the enemy.

(BEGIN VIDEOTAPE) GUPTA (voice-over): Kasey Knauff spends her days inside looking out. It's only at night, once the sun goes down, that she can venture out beyond her living room window and do what other four and a half year olds might normally do during the day.

UNIDENTIFIED FEMALE: Do you like to run?

GUPTA: Like take a walk. Even on cold nights, the family makes the most of it.

UNIDENTIFIED MALE: Whoa. Come on you got it. There you go.

GUPTA: Mainly, they're just happy that she's there at all.

When Kasey was born, she appeared fine, but her heart rate was up and other complications developed. Doctors couldn't figure it out. They put her under lights to keep her warm, but things got worse.

Less than 12 hours old, worried doctors sent Kasey to a trauma center, where they put her under a stronger bilirubin lamp, the blue light commonly used for jaundice.

KURT KNAUFF, KASEY'S FATHER: She swelled like three times her size. She turned like red and then blue. And she was like black and blue from head to toe. And nobody knew what was going on. It took about two and a half weeks. And they come up with a diagnosis.

GUPTA: By that time, she had been burned all over her body. It turns out her skin is ultra sensitive to light. Kasey suffers from CEP, one of the rarest forms of a rare genetic disorder called Porphyria.

It has many manifestations. And reddish purple urine, purple teeth, and abdominal pain are all telltale signs. Kasey is one of less than 100 people in the United States with this particular kind of Porphyria.

Her demon is light. Sunlight, fluorescent light, halogen light, exposure to any ultraviolet light can burn her skin, creating blisters, scarring, infections, and a myriad of other painful complications.

K. KNAUFF: It's made out of ultraviolet protection material.

GUPTA: Her parents take every precaution to keep her safe. There are special UV filters on all of the windows in her house. They use incandescent light bulbs of no more than 50 watts and a full-time nurse to help Kasey with her regimen.

Because her scars don't grow with her body, she's had numerous plastic surgeries. Broken bones, deformities, stomach problems all part of the territory and lots and lots of doctors.

K. KNAUFF: Hematologist, dermatologist, plastic surgeons.



K. KNAUFF: Nobody's really a specialist in C.E.P., so to speak, but we'll take any advice from any of them, of course.

GUPTA: And the effervescent Kasey takes it all in stride, like her monthly trip to the pediatrician, which requires serious preparation.

K. KNAUFF: .05. That's a good day, real good day for Kasey.

GUPTA: Outside, her dad checks the UV index chart. Inside, the nurse helps Kasey put on her special protective suit. And then, the rush to the van.

UNIDENTIFIED FEMALE: All right, now, let daddy come and pick you up.

K. KNAUFF: Going to stay covered for a second?

GUPTA: Once inside, she's protected by UV filters and a blackout curtain. Not your typical trip to the doctor. Even here, the lights are adjusted as Kasey gets her hemoglobin checked, along with her general health, because besides coordinating with specialists, that's about all her pediatricians can do.

K. KNAUFF: You need everybody to hold your hand? My goodness.

DAVID COGGINS, DR., KASEY'S PEDIATRICIAN: Her parents have been really very instrumental in helping me learn about it, because they've done a lot of research and have been to a lot of different specialists.

GUPTA: The only known cure for C.E.P. is a bone marrow or stem cell transplant, which is very risky. And they haven't yet found a match for Kasey. In the meantime, they're hoping slow exposure to more light and possibly blood transfusions might help.

BRENDA KNAUFF, KASEY'S MOTHER: If she does blood transfusions, she could relatively live a normal life. She would just have to every couple of weeks, go to the doctor's or a hospital, have the blood work done. Then she have a blood transfusion. And then she would be able to go outside, lead a normal life.

GUPTA: But what about school?

B. KNAUFF: If we get her prepared ahead of time with tinting the windows and putting covers over the ultraviolet light, then we would be able to take her to school.

K. KNAUFF: When I was a kid, just like anyone, when you got in trouble at school, the first thing they do is usually take away your recess, which is -- so that, unfortunately, is one of the bad things. So she won't have recess, go outside and play with other kids. GUPTA: Her parents say Kasey doesn't feel like she's missing out yet.

B. KNAUFF: Who knows, maybe in the future enzyme research is really big right now. So by the time she grows up, she might have a cure. They can just inject the enzyme that she's lacking and she'd be able to lead a normal life.


GUPTA: And Kasey's family tells us since we visited with them, that they have found a C.E.P. specialist in New York, who hopes to improve Kasey's chances for a more normal life. They've also started looking at elementary schools, where they can control the light exposure.

Kasey, good luck from all of us here at CNN to you and your family.

Coming up, a quiet smiling baby. It's what a parent dreams of. Right? Maybe not. Stay tuned.


UNIDENTIFIED MALE: Our pediatrician had never heard of it. So as we're going along, we're educating physicians on what this is.

UNIDENTIFIED FEMALE: When a smile is a symptom. Kaitlin's story, after the break.


GUPTA: We're back with HOUSE CALL. We're talking about rare disorders. Angelman Syndrome. Sounds angelic, but it's not as heavenly as the name implies. It's considered a rare disorder, even though thousands of people may be living with it, just undiagnosed.

What's heartbreaking, though, is the first signs of Angelmans are what many people think of as the perfect baby.


GUPTA (voice-over): A happy baby is usually a blessing, but for Kaitlin Braun her smile hid a secret and her laughter masked a serious problem.

EILEEN BRAUN, KAITLIN'S MOTHER: People would comment all the time, you have such a happy baby. You know, she's so wonderful. She's very quiet.

GUPTA: Kaitlin's parents didn't think anything was wrong until her mom was looking at photos.

E. BRAUN: When Kaitlin was about nine months old, we had been on vacation. And we had a picture of her at the beach. And she was really kind of a fat, chubby little baby. And we had a picture of her the next month sitting on the couch. And she just looked so thin, like there was nothing to her anymore.

GUPTA: For the next 13 months, Kaitlin met with a string of specialists. She was misdiagnosed with one disorder, treated, and then finally rediagnosed with Angelman Syndrome.

People with Angelman Syndrome are missing part of their 15th chromosome, resulting in mental and physical handicaps. One of the hallmarks of Angelman is the ability to comprehend, but not speak.

CHARLES WILLIAMS, ANGELMAN SYNDROME EXPERT: In fact, the absence speech in association with happy demeanor, often with excessive laughter is one of the features that brought it to attention.

GUPTA: After the initial shock of Kaitlin's diagnosis, Eileen and Tom Braun went to work to help their daughter.

TOM BRAUN, KAITLIN'S FATHER: Our pediatrician had never heard of it. So, you know, as we're going along, we're educating physicians on what this is and what to expect, and how to treat.

E. BRAUN: For Kaitlin, growing up meant lots of therapy, physical therapy, occupational therapy, speech, and language therapy.

GUPTA: Kaitlin has a rich life. Now 15-years old, she goes to high school and enjoys being a teenager. In special education classes, she learns vocational and communication skills, and especially enjoys PE, where she is mainstreamed into the general population of the school.

She communicates with gestures and a modified sign language.

REBEKAH LEHMAN, KAITLIN'S SPEECH PATHOLOGIST: I imagine the frustration that she goes through just being herself on a regular basis, and not being able to express what's going on. There's a daily challenge for her.

GUPTA: Kaitlin has two younger brothers and a younger sister. And they all have their own thoughts about why they think Kaitlin is special.

KIMBERLY BRAUN, KAITLIN'S SISTER: It's really fun because not everybody has a sign language sister.

JONATHAN BRAUN, KAITLIN'S BROTHER: She can cheer you up. And she can really make you laugh. She likes to watch me play soccer. And she's like my number one fan.

JOEY BRAUN, KAITLIN'S BROTHER: She just has a big smile on her face. And she like comes around. She's like giving everybody hugs and stuff.

GUPTA: In the Braun family, spreading the word about Angelman is not just a cause close to their heart, it's very close to their home. Kaitlin's mom Eileen is the director of the Angelman Syndrome Foundation, which she runs out of the family's basement.

E. BRAUN: You ready for budget?

GUPTA: From here, Eileen organizes fundraisers and tries to be a resource for families dealing with Angelman Syndrome.

E. BRAUN: Need some help?

GUPTA: The Brauns are dealing with it optimistically, cheerfully, and spiritually.

E. BRAUN: Our family certainly has a very deep belief in God. And I have no doubt that when we get to heaven, that Kaitlin is just going to give us an earful of all the things that we've missed.


GUPTA: Thanks to the Braun family for sharing Kaitlin's story with us. And for more information, you can go online to

Just ahead, we're going to answer your questions about rare disorders.

UNIDENTIFIED FEMALE: Getting help, finding the answers and support you need. That's just ahead.

And later, a father who signs his family up to lose weight and saves his own life in the process.

But first -- this week's medical headlines in "The Pulse".


CHRISTY FEIG, CNN CORRESPONDENT (voice-over): A French woman who received a face transplant in November is appearing in public for the first time. Isabel Denoir is now able to move and feel her transplanted lips, nose, and chin, but speaks with a slight slur.

Doctors say there is still a chance Denoir may reject the donor facial tissue.

It may do your body good, but a low fat diet won't prevent some common diseases in older women. According to three new studies in "The Journal of the American Medical Association", low fat diets do little to prevent heart disease, breast cancer, and colon cancer in post menopausal women.

And despite their findings, researchers warn being overweight will put women of higher risk of these diseases.

Christy Feig, CNN.



GUPTA: If you're looking for more information about a rare disease, try going to One great link we found there actually helped people looking for experts find discounted lodging and travel themselves.

Another major resource is the National Organization for Rare Disorders found at

Now millions of Americans are desperately seeking help for these disorders. As you've seen from Kasey and Kaitlin's stories, getting the right diagnosis and finding help is often an uphill battle.

Here to help us in that fight is the head of the National Organization for Rare Disorders, Abbey Meyers.

Thank you very much for joining us.


GUPTA: This - Abbey, you know, this has been very interesting for me. I've learned a lot sort of researching these rare disorders. What's the biggest problem you have in advocating for these rare disorders?

MEYERS: Well, most people are very unfamiliar with most of these diseases. And when you talk about them, they feel that it's a disease that they won't get.

But the truth is everybody has some diseases in their genes that they could possibly pass on to their offspring and relatives. And it's a problem of getting them to understand that we're all threatened by these diseases.

GUPTA: And it seems like a lot of people have to understand ultimately the patients themselves, their families, the doctors, the political leaders even who fund these things.

Lots of e-mails coming in on this. We received an e-mail from a lot of frustrated people, quite honestly. Let's get to one now from Candace in New York, who wrote this. "I would like to know what percentage of patients are out there living with a condition that seems to be undiagnosable? How do you get answers? And is there hope?"

And Abbey, you know, I'm sure there's a lot of people watching today who have gone to the doctor and have basically been told, look, we don't know what you have. We don't know what to do for you. What do you do for them?

MEYERS: Well, it's very sad. There was a government study a few years ago, that showed that about 30 percent of rare disease patients go from one to six years to get a diagnosis. And 15 percent go for more than six years. So it's a big problem.

The truth is, though, that in the medical system, the hospitals that are associated with medical schools is where the specialists are who become -- the patients who can't be taken care of in the community, the people who can't be diagnosed, when they're referred to a teaching hospital...

GUPTA: Sure.

MEYERS: ...that's where you go to find the experts.

GUPTA: And that makes sense in some ways, a teaching hospital more likely to have experts in specific areas.

But Abbey, you know, it seems to me that the problem is that, you know, drug companies, for example, aren't going to want to make drugs for diseases where there aren't that many people affected, because they can't make any money on those drugs. How do you as part of the organization that you're involved with sort of inspire these drug companies to do the right thing for these rare diseases?

MEYERS: Well, those kinds of treatments are called orphan drugs. And for many, many years, drug companies wouldn't make them.

But in 1983, Congress passed a law called the Orphan Drug Act, which gives them financial incentives to entice drug companies into developing the treatments.

And it's worked very well. We have over 280 orphan drugs on the market now and about 1400 in the research pipeline. And among them are treatments for diseases that affect as few as 100 patients.

So it is possible, if we scientifically understand what's wrong, and we can replace the protein that's missing or that isn't perfect, to be able to help people to recover.

GUPTA: Right.

MEYERS: And we always hope that some day, most people will be treated like insulin for a diabetic.

GUPTA: Right.

MEYERS: It doesn't cure you, but it sure is a good treatment.

GUPTA: And I should point out, Abbey, you were very involved with that Orphan Drug Act, as well.

Look, there's a lot of questions also coming in about specific diseases. I wonder if I can ask you about a couple of those. Too many to answer all of them.

But one disorder stood out because of the volume of questions on this. An example is from Delores in Colorado. "I've developed a rare balance disorder called mal de debarquement syndrome. It took months to get a diagnosis since many people in the medical field have never heard of it. How can we educate our doctors?" is what Delores asks.

And let me ask, Abbey. I'm a doctor, I went to medical school, and I've never heard of this. What is it?

MEYERS: Well, it's a very unusual condition. It's a condition of the vestibular system, which has to do with balance. And it often happens with people who may be on a cruise, or a long train ride, where you feel dizzy, but when you land, that feeling is supposed to go away.

And with these people, it doesn't go away. And it becomes a chronic problem, this dizziness. So it really need to be diagnosed in order for anybody to try to treat it.

GUPTA: Well, I hope that's at least some help to Delores and lots of other e-mailers who e-mailed us about this specific thing.

Abbey, look, we could talk all day about this. Really interesting. I want to thank you for being with us this morning. Really important stuff. Keep up the good work, OK? Thank you.

MEYERS: Thank you.

GUPTA: Stay tuned, everyone, for more HOUSE CALL.

UNIDENTIFIED FEMALE: Fighting the fat.


UNIDENTIFIED MALE: Any way you go, there's food. It's kind of calling out for you. I'm over here. I'm over here.


UNIDENTIFIED FEMALE: We go inside a border town to see what's making a difference.

Plus, is working out good or bad for you when you're sick? Find out after the break.


GUPTA: Welcome back to HOUSE CALL. According to government figures, Texas is one of the heaviest states in the nation with border towns bearing the brunt of the obesity epidemic.

Kelly Callahan filed this report.


KELLY CALLAHAN, CNN CORRESPONDENT (voice-over): At the Henry Gonzalez Elementary school, 55 percent of students are considered overweight. 37 percent are deemed obese. There are plenty of concerned parents.

UNIDENTIFIED FEMALE: My child is in sixth grade. He's overweight. So he takes -- if anybody else doesn't want the food, he just puts the food...

CALLAHAN: Students now drink low fat milk. And fresh fruit replace the sugary juices. These changes are part of a wellness program brought here by a nonprofit group concerned about childhood obesity in border towns.

Miguel and Yaya Esmerelda Rodriguez and their four children enrolled, after program workers were concerned about three-year-old Ashley's weight. When CNN visited, 34-year-old Miguel found out he had dangerously high blood pressure. There is also a troubling family health history on both sides.

MIGUEL ANAYA, "GET FIT" PARTICIPANT: My father-in-law, he has a little bit of diabetes. He had a stroke. My mom, she passed away. She had diabetes, too.

CALLAHAN: The family has no health insurance. A staggering 34 percent of those under the age of 18 live below the national poverty line in this community.

(on camera): Recent research shows that overweight Hispanic youth may be at greater risk than other groups of developing Type II diabetes and cardiovascular disease.

(voice-over): And the Centers for Disease Control and Prevention offers this chilling projection. Half of all Latino children born five years ago in the U.S. are expected to develop diabetes in their lifetime.

Anaya credits the wellness program, organized by a Methodist Healthcare Ministries, with teaching his family to exercise and eat better.

M. ANAYA: I got my plums. I like eating a lot of fruit.

CALLAHAN: Anaya lost seven pounds and says he feels good, but he adds that the temptation of fast food is everywhere.

ANAYA: Anywhere you go, there's food. It's kind of calling out for you. I'm over here, I'm over here.

CALLAHAN: Kelly Callahan, Eagle Pass, Texas.


GUPTA: All right, Kelly, thanks.

We'll be back after the break.



CAROL COSTELLO, CNN ANCHOR (voice-over): You're feeling sick, your body is achy, your head is pounding, and your throat is scratchy. Should you go to the gym and work out, or stay home and rest? A dilemma for people who exercise casually and even competitive athletes.

DREW WERNER, DR., VALLEY VIEW HOSPITAL: The human body is amazing. It's the only machine that the more you use it, the better it works. And so once you start working, you probably shouldn't stop.

There are some exceptions. If you have the flu, you need to consider the people you're working out with. So if you're in a gym or a health club facility, you don't want to be spreading your flu to everyone else.

If you have a fever, or if you're really so sick, coughing or short of breath, then you shouldn't work out.

COSTELLO: The American College of Sports Medicine says if your symptoms are above the neck, it's usually OK to exercise. Walking would be best. But when you return to your routine, cut back on the intensity of the workout, allowing your body time to heal.

Carol Costello, CNN, New York.


GUPTA: All right, Carol, thank you so much.

Unfortunately, we're out of time. Make sure to tune in next weekend. We're going to be talking about healthy hearts from new scans that can detect problems before they start to cutting edge treatment for failing hearts. That's next weekend at 8:30 Eastern. E-mail us your questions at

Thanks for watching. I'm Dr. Sanjay Gupta. Stay tuned now for more news on CNN.


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