STORY BYAt a time when thousands are clamoring for the chance to win extreme makeovers on reality television shows, Amie Osborn faces a quite different reality.
Osborn (pictured above) has Treacher Collins syndrome - a genetic, craniofacial birth defect that is marked by downward slanting eyes, a small lower jaw and malformed or missing ears.
One in every 10,000 babies is born with the disfiguring syndrome, which can cause hearing, breathing and eating problems, as well as social issues.
"Many people assume that people with Treacher Collins are not normal because they don't look `normal,'" Osborn says. "The truth is people with Treacher Collins are a lot less different than people may assume based on their looks."
Osborn, 25, has made it her personal mission to educate the public about Treacher Collins and prove that looks can be deceiving.
She has a web site, which eventually led to the formation of a Treacher Collins support network. On June 3 and again on June 5, she will be among six people who will be featured in a Discovery Channel documentary called "Unmasked: Treacher Collins Syndrome."
Last weekend, she graduated from The University of Texas Medical School at Houston. Osborn hopes that her place in the medical field will give her more opportunities to dispel misperceptions while promoting the facts about Treacher Collins. Ultimately, she says, this could lead to better care for babies born with the syndrome.
Dr. John Teichgraeber, professor of surgery at the UT Medical School, says the cause of Treacher Collins is unknown, but it appears to be a genetic mutation that interferes with the formation of the baby's cheekbones and other facial features.
The orbits of the eyes may be malformed, causing vision problems. If the jaw is too small, the tongue may block the airway, making it necessary for the patient to have a tracheostomy.
The outer ear and middle ear may not develop properly, which could lead to hearing loss. There are varying degrees of the syndrome.
Osborn's at UT Medical
School graduation
ceremonies.
Osborn has a pronounced case. Growing up, she required a tracheostomy (throat tube) to help her breath at night. Doctors eventually were able to remove the tracheostomy, but she still requires the use of a Continuous Positive Air Pressure machine to assist with her breathing while she sleeps.
Osborn was born without external ears or ear canals, so she wears a bone conduction hearing aid so that she can hear. She's also had multiple reconstructive surgeries - one of which was unsuccessful - to improve symmetry of her facial features and diminish medical complications caused by her small jaw.
Her mother, Karen, and grandfather have much milder cases. In fact, her grandfather's Treacher Collins features are so subtle, he didn't know he had the syndrome until geneticists began looking at their family history.
Treacher Collins can be spontaneous, meaning that the genetic mutation occurred on its own, rather than being passed down from a parent. It can also be inherited. A person with Treacher Collins has a 50 percent chance of passing it onto their children. As the syndrome is passed from one family member to the next, the disease may become more severe, but this is not always the case.
When there are distinctive facial anomalies, Teichgraeber says, parents should prepare for their baby to have multiple surgeries.
Osborn added that no one doctor specializes in Treacher Collins, so parents can expect to deal with numerous physicians. She and Teichgraeber, who performed one of Osborn's surgeries, recommend that parents seek out a craniofacial team that has experience with Treacher Collins patients.
Babies who are unable to breath on their own because of a blocked airway will require a trachestomy. That is usually the first surgery, and can take place within days of their birth.
If they have hearing problems, they will need to be fitted for a hearing aid early on to assist with their development.
Next, reconstructive surgery to rebuild the bones around the eyes and repair soft tissue may be in order. That usually takes place when the child is 3-4 years old. Distracting the jaw (lengthening the jaw) can be done when the child is between the ages of 4-6. Using maxillary and mid-face distraction, surgeons can promote bone growth so the jaw gradually stretches.
"Distraction osteogenesis is one of the biggest advances we've had for patients with Treacher Collins," Teichgraeber says. "The technology was initially used for legs and arms. In the 1990s, we began using it to extend the jaw. We use a computer modeling program to assist with the surgery."
If additional work is needed, Teichgraeber recommends that patients wait until adolescence to have reconstructive surgery on their cheekbones and nose.
It's important, he says, for both parents and patients to manage expectations about these reconstructive surgeries. Surgeries can improve symmetry and medical complications that stem from the disfigurement, but signs of Treacher Collins are likely to remain. Children with the syndrome may never share their parents' resemblance or look "normal."
Osborn said that news can be difficult to swallow. "But there is a light at the end of the tunnel," she says. "Things do eventually plateau out, and you reach your own status quo." Support is critical for both patients and their families, Osborn adds.
"It can be very overwhelming at first when you have a child with Treacher Collins," she says. "There are so many doctors you have to see. Medical issues aside, one of the biggest questions parents have is: `What is my child's future going to be?'"
The future, Osborn says, holds no bounds for people with Treacher Collins. They can set out to accomplish their dreams, just like anyone else.
"Raise your baby like you would any child," she says. "Don't try to shelter them. Teach them how to deal with issues.
"I can very clearly remember my mom tucking me into bed and telling me, `Everyone has issues. For most people, you can't see what their issues are, but they have them. Treacher Collins is your issue. You have to deal with it and move on.' It stuck with me, and kept me from feeling sorry for myself."
For more information on Treacher Collins syndrome, visit Osborn's web site at www.treachercollins.org.
UPDATED: 6-01-2005
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Dr. John Teichgraeber is a professor of plastic surgery at the UT Medical School.
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Summer Carbon Monoxide Dangers
Generators used to cool off homes in hot summer months can cause death through carbon monoxide (CO) poisoning.
CO is an odorless, colorless gas that can kill or seriously and permanently injure people who inadvertently breathe in the noxious fumes emitted from generators in an enclosed space.
During hurricane season, emergency rooms see a rise in cases of CO poisoning from people bringing generators into their homes to provide power, often for cooling fans as well as cooking.
“During Hurricane Rita, we had a family of five die here in Houston for CO poisoning,” reminds UT Medical School Hyperbaric Medicine expert, Dr.Caroline Fife. “The Center for Disease Control and Prevention tracked deaths from CO poisoning due to combustion engines after Katrina and Rita and there was a dramatic increase.”
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People riding in the back of pick-up trucks are at risk, too. Numerous cases have been cited of children poisoned by riding beneath tarpaulins or enclosed “cabs” in the back of the truck. In these cases, the trucks had a leak in the exhaust system or a rear-exiting tail pipe, not a side exit.
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