Dori Pekmezi's health problems as a young girl often baffled her parents. Pekmezi, 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.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 on UAB's campus. 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.”
To learn more about the support group, or to become a part of it, contact Krista Jones at 205-532-6383 or e-mail her at
kristamartinjones@gmail.com .
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.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 on UAB's campus. 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.”
To learn more about the support group, or to become a part of it, contact Krista Jones at 205-532-6383 or e-mail her at kristamartinjones@gmail.com .