Dori Pekmezi’s health problems as a young girl often baffled her parents. Pekmezi, Ph.D., now an assistant professor of Health Behavior, was a little short for her age at all of the benchmarks, and she also had some heart, ear and gastrointestinal anomalies and some difficulty with spatial skills. The family wondered if there was a connection between all of the odd, general problems, but the doctor was unable to put the pieces together to form a clearer picture.
|Dori Pekmezi, left, and the School of Public Health will host a meeting of the Alabama Turner’s Syndrome Support Group Saturday, April 16.|
Pekmezi’s mother insisted on genetic testing and discovered that her 10-year-old daughter had Turner’s syndrome (TS), a chromosomal condition attributed to females with common features that is caused by complete or partial absence of the second sex chromosome.
“Unfortunately, many parents know their daughter is a little short and has different conditions that seem to arise,” Pekmezi says. “But they don’t know there could be an underlying issue connecting them, in my case Turner’s syndrome; that’s why awareness is important. If your daughter is extremely short or has other Turner’s-distinguishing characteristics, she can be screened, and you can get ahead of the curve on her treatment.”
Pekmezi recently discovered the state’s first Turner’s syndrome support group, and she quickly befriended group founder Krista Jones. The duo is trying to raise awareness and promote an upcoming April meeting of the TS support group from 9 a.m. to noon Saturday, April 16 in the Ryals Public Health Building.
Jones says this will be an opportunity for people to share their personal stories and learn how to connect with other TS women and families in their communities. Planned discussions include starting a pediatric TS clinic in Birmingham and preparations for the teen years and beyond.
Today Jones knows a TS diagnosis can shake a family, but she had never heard of TS until her daughter Vida was born in March 2010. She founded the support group this past year to connect with others and to learn more about its effect on children and women. She hopes the April meeting will empower others who feel lost or alone.
“The first time I talked with someone who had TS I immediately felt better,” Jones says. “I was no longer isolated. I was no longer the only person who had heard of it among my family and circle of friends. Turner’s syndrome women tend to be so hopeful and positive. I’m not trying to make a generalization, but everybody I’ve talked to — despite what they’ve had to deal with — was upbeat and hopeful. I hope others can take away that feeling and gain some knowledge from the meeting.”
Turner syndrome is named for Henry Turner, a physician who was among the first to describe its features in the 1930s. It occurs in approximately one in 2,000 female births and as many as 10 percent of all miscarriages.
Primary characteristics include short stature, premature ovarian failure and difficulty with spatial-temporal processing (imagining objects in relation to each other), nonverbal memory and attention. Some common physical features include a narrow, high-arched palate, a receding lower jaw, low-set ears, low hairline, scoliosis, flat feet and edema (swelling of the hands and feet) especially at birth.
Diagnosis is made through a karyotype test, which is usually performed on cells in the amniotic fluid before birth and on cells in the blood after birth. A trained specialist counts the chromosomes in the white blood cells and looks for abnormalities.
Edema was the first symptom that made Jones pursue further testing for Vida. Her feet were swollen at birth, and doctors wanted to watch the condition for a while to see what developed. Vida’s feet were still swollen two months later, which led to several tests, including the genetics test that showed it was TS. It was the first time Jones ever heard of the syndrome.
“Really, we feel blessed she was so young when we found out,” Jones says. “We can address her health concerns and be as proactive as possible.”
That’s the reason Jones formed a TS support group in Alabama with the help of the Turner’s Syndrome Society.
“Vida is so young, and much can change during the next 10 to 20 years when she’s going to need all of these health services, so why not jump in and show our support and help raise awareness,” Jones says. “She can live a perfectly happy and normal life. But there are underlying issues that cannot be ignored.”
High quality of life
Pekmezi is aware of those underlying conditions. She’s also keenly aware that when they are diagnosed early, the chance for a high quality of life increases dramatically.
For example, when she was diagnosed at 10, doctors started her on a growth hormone. “And now I’m 5-foot-3 — taller than my mom,” she says.
Pekmezi and her husband are consulting with Wright Bates, M.D., in the UAB Division of Reproductive Endocrinology and Infertility and hope to start a family soon.
“There are so many amazing options available these days,” Pekmezi says.
Pekmezi hopes the upcoming TS support group meeting will provide answers to questions and hope for those with TS.
“I love my life,” Pekmezi adds. “My quality of life is amazing. Sure, I still have some health complications, but I’m followed by all UAB doctors and getting good care.”