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.
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Eating healthy
reverses metabolic syndrome
Dr. Tasnime Akbaraly of University College London and her colleagues were interested if healthy eating could actually turn-the-tide and reverse metabolic syndrome, which is having 3 or more of the following risk factors: excess abdominal fat; high triglycerides, hypertension, low levels of HDL the “good” cholesterol, or type 2 diabetes. Having metabolic syndrome doubles a persons’ risk of heart disease and greatly increases the odds of developing type 2 diabetes.
The researchers studied 339 British civil servants with metabolic syndrome, and how closely the adhered to the Alternative Healthy Eating Index (AHEI) to see if it could help reverse metabolic syndrome. The AHEI is a set of published nutritional guidelines by the Harvard School of Public Health in 2002 that emphasizes whole grains, fruits, vegetables and decreased red meat consumption.
Five years into the study, nearly 50% no longer had metabolic syndrome. People who followed the AHEI guidelines the closest were nearly twice as likely to have reversed their metabolic syndrome. The results of the study were published in Diabetes Care, online July 29, 2010.
Dr. Alice Lichtenstein, an expert on diet and heart health from Tufts University in Boston who was not involved in the study said, "It's not about focusing on individual components of the diet, it's really the whole package, and that becomes important because it means that if one of the components of a healthy diet is to eat more fruits and vegetables, just buying a pill saying that there's a concentrated extract of fruits and vegetables is probably not what's going to help you."
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