STORY BYDuring the delivery of Cindy Dunnam’s first daughter, she could tell by the look of shock on her doctor’s face that something was wrong.
The newborn had a webbed neck and lymphedema, a condition which caused her hands and feet to swell.
Days after Brooke Kaczynski’s birth, the doctor diagnosed her with a chromosomal disorder that her mother had never heard of.
“The pediatrician said, `Oh, it’s just Turner Syndrome. She’ll be short. She’ll be sterile, but her intelligence will be fine.’ Then he walked out,” Dunnam recalled. “It was very scary.”
Turner Syndrome, which is caused by the absence of, or a defect in, the second sex chromosome, affects one of every 2,000 to 2,500 females. Primary characteristics of Turner Syndrome include short stature and premature ovarian failure, which causes infertility in about 99 percent of patients. They also are at risk for other health complications, including chronic ear infections, orthopedic problems, diabetes, thyroid disorders and heart and kidney disease.
Mohammad Yafi, M.D., assistant professor of pediatric endocrinology at The University of Texas Medical School at Houston, said patients should start taking human growth hormone by the time they are 2 or 3 years old to counteract poor growth.
“The pediatrician said, `Oh, it’s just Turner Syndrome. She’ll be short. She’ll be sterile, but her intelligence will be fine.’ Then he walked out.”This is why early diagnosis is critical, he said, yet patients often do not get diagnosed until they are adolescents and have not begun to menstruate or develop breasts.
“The problem you see is a social bias,” Yafi said. “Society accepts girls that are cute and petite. Because of that, the family may not question the girl’s poor growth, and doctors may not chart the patient’s growth progress.”
Untreated patients are, on average, eight inches shorter than women without the disorder. Daily injections of growth hormone, which is a synthetic protein that helps the body grow, can add three to four inches to a young woman’s height, Yafi said.
“The clinical research and evidence shows the earlier the better when it comes to growth hormone therapy,” he said. “There is no need to wait until the child is already suffering.”
As with any medical treatment, there is a risk of side effects, including joint pain and severe headaches, but Yafi said those are rare.
When the child reaches adolescence, she also needs to take estrogen and progesterone to enter puberty and decrease her risk of developing osteoporosis, Yafi added.
A simple blood test is all that is needed to diagnose the disorder. He recommends that parents ask for the test if their newborn daughter has any symptoms of Turner Syndrome, such as lymphedema or webbed neck, or falls below the fifth percentile of the normal female growth curve.
Once diagnosed, parents and their doctors should closely monitor for heart, kidney and thyroid diseases, as well as other endocrine problems, such as diabetes.
Dunnam, who is now president of the Houston-Southwest Texas chapter of the Turner Syndrome Society, said awareness of the disorder, both among parents and health care providers, leads to better outcomes for patients.
“When my daughter was diagnosed, there was very little information available about Turner Syndrome, and a lot of what was out there was wrong,” Dunnam said. “I really think that with Turner Syndrome, parents have to be well informed, because they are going to be teaching their pediatricians about it. Sometimes you need to tell them what they need to be looking for.”
Dunnam said her daughter, who is now 5, can tell you plenty about the disorder and growth hormone therapy. “At 4, she was using big medical words.” Dunnam said. “She doesn’t understand everything that entails, but one day she will.”
Laura began taking growth hormone therapy a year ago. At the time, her younger sister was already taller than her, and Dunnam said there were arguments about who was actually the “big sister.”
“She’s grown 4 ½ inches in the past year,” Dunnam said. “It makes her so proud to grow out of her clothes and shoes.”
Dunnam said her best advice for parents of daughters with Turner Syndrome is to take it day by day.
“You see an average of seven to nine specialists a year, and it ends up being a lot of doctors’ appointments,” she said. “It can really be overwhelming. You just have to take it all in stride and understand that your daughter can have an absolutely normal life. She can ride a bike and go to preschool. She can become a doctor or an FBI agent. She can do anything she sets her mind to.
For information, visit http://www.turnersyndrome.org/ or
call 1-800-365-9944.
For additional information, go to tsgirl.zzn.com
UPDATED: 3-24-2003
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Tetanus booster for adults
Tetanus does not result from the rusty nail or whatever created the wound. The danger lies in the bacteria Clostridium tetani that lives in the soil or manure on that nail or gardening tool. When these spores get into a wound—deep or shallow—they can produce a potent toxin. Also called lockjaw, tetanus seriously affects the central nervous system and can be fatal.
Onset of symptoms can occur anytime from three days to three weeks. Call your health care provider if you have an open wound, particularly if:
Adults should have a tetanus booster shot every 10 years, known as the Td vaccine. It is a "2-in-1" vaccine that protects against tetanus and diphtheria. It contains a slightly different dose of diphtheria vaccine than what you received as a child. It can be given to anyone older than 7 years and is injected, usually into the arm.
Instead of the standard Td booster every 10 years, adults between the ages of 19 and 65 should receive Tdap one time in their adulthood to boost the immune system for pertussis, as well as tetanus and diphtheria.
Diphtheria, a contagious bacterial infection created that causes severe inflammation of the throat and larynx and can also affect the whole body. Pertussis or “whooping cough” is a serious bacterial infection that afflicted children and infants before vaccines were available. Adults may be infected later in life as their immunities wane. Neither of these infections are related to tetanus, but both vaccines are compatible and convenient to use with the tetanus booster.
