People With Angelman Syndrome Are Missing Part Of Their 15th Chromosome, Resulting In Handicaps; Face Transplant Patient Appearing In Public
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.</s>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.</s>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.</s>GUPTA: Kaitlin's parents didn't think anything was wrong until her mom was looking at photos.</s>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.</s>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.</s>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.</s>GUPTA: After the initial shock of Kaitlin's diagnosis, Eileen and Tom Braun went to work to help their daughter.</s>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.</s>E. BRAUN: For Kaitlin, growing up meant lots of therapy, physical therapy, occupational therapy, speech, and language therapy.</s>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.</s>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.</s>GUPTA: Kaitlin has two younger brothers and a younger sister. And they all have their own thoughts about why they think Kaitlin is special.</s>KIMBERLY BRAUN, KAITLIN'S SISTER: It's really fun because not everybody has a sign language sister.</s>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.</s>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.</s>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.</s>E. BRAUN: You ready for budget?</s>GUPTA: From here, Eileen organizes fundraisers and tries to be a resource for families dealing with Angelman Syndrome.</s>E. BRAUN: Need some help?</s>GUPTA: The Brauns are dealing with it optimistically, cheerfully, and spiritually.</s>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.</s>GUPTA: Thanks to the Braun family for sharing Kaitlin's story with us. And for more information, you can go online to www.angelmansyndrome.org. Just ahead, we're going to answer your questions about rare disorders.</s>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".</s>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.