Succeeding with Turner Syndrome

Jennifer Law, MD, director of UNC Children’s Turner Syndrome Program, is working to build awareness of Turner syndrome and show patients and their families that they can overcome their diagnosis.

Succeeding with Turner Syndrome click to enlarge Cate Goodman
Succeeding with Turner Syndrome click to enlarge Jennifer Law, MD

By Jamie Williams, jamie.williams@unchealth.unc.edu

Cate Goodman has just returned from the summer camp in Brevard that she’s attended each of the last seven summers. She’s looking forward to her sophomore year at Pinecrest High School in Southern Pines where she’s a star student.

“AP world history has been my favorite class,” Cate said. “Chemistry is pretty neat, too.”

Last year, she founded a group called Garden Buddies that works to build and maintain gardens on the grounds of elementary and middle schools in her community. Cate and other members of the group lead weeding and clean-up days with the students at the schools, show them the basics of planting and caring for the vegetables and flowers, and talk about the importance of eating healthfully. They’ve completed five garden projects thus far.

“It’s something that I really enjoy,” she said. “And working with other kids, seeing them having fun with it as well, is really awesome.”

Talking with Cate, the fact that she has Turner syndrome may not even come up.

Turner syndrome is a non-inherited chromosomal condition that affects approximately one in 2,500 girls. It only affects females and is caused when one X chromosome is complete and the other is missing or altered.

When Cate was diagnosed in the third grade, her mother Laura said she’d never heard of Turner syndrome.

“We were extremely concerned because there wasn’t a lot of clear information out there; there’s no book to read,” Laura said.

That reaction is common, said Jennifer Law, MD, assistant professor of pediatrics and director of UNC Children’s Turner Syndrome Program.

“I see a lot of fear,” Law said. “Parents haven’t heard of Turner, but they hear ‘syndrome’ and they are very scared of that word.”

Law has made it her goal to increase awareness of the syndrome, among both parents and pediatricians, to increase early diagnosis and intervention, which can help girls like Cate live normal lives. Turner syndrome is easily diagnosed through a blood test, but its symptoms – which present differently in individual patients and are often subtle to the untrained eye – do not often raise concern in parents and providers unfamiliar with the condition.

The most common characteristic of Turner Syndrome is short stature. On average, a woman with Turner syndrome will be around 4-and-a-half feet tall. Law advises parents that if their daughter is at or below the fifth percentile of the height range, then they should be screened for Turner syndrome. But, due to the lack of knowledge surrounding the condition, it’s not that simple.

“If you had a young boy who was growing at a slower rate than his peers, parents would probably be very concerned,” Law said. “But, with girls, it’s natural for many parents to just think everything is ok, that their daughter will just be ‘petite.’”

But through early diagnosis girls with Turner can begin a course of growth hormone that in many cases helps them grow to a height of more than five feet.

“The few inches that we can give them through the growth hormone treatment is the difference in driving a normal car without modification, it’s working in a normal kitchen, it just helps people lead a normal life and do the things that most of us take for granted,” Law said.

Cate has just finished her growth hormone treatments. Her mother is grateful she was able to start them early, and through diligence and organization, the routine of the daily shots became a non-issue.

Aside from short stature, other symptoms of Turner Syndrome are not immediately apparent.

The condition physically manifests with traits like low set ears, a higher than normal amount of moles around the face and neck, a low hairline, or a webbed neck. These subtle characteristics can be difficult for parents or pediatricians to pick up on or be concerned about.

 But early diagnosis and intervention can help mitigate the effects of Turner syndrome before more serious complications, including hearing loss and heart problems, develop.

Many girls with Turner syndrome will experience some learning issues, which can interfere with school and career options if not addressed. Laura said when her daughter was first diagnosed they worked with Cate’s school on appropriate accommodations and later set her up with a math tutor.

“We found out that what Cate enjoys the most is reading and learning,” Laura said. “So, we tried to allow her to focus on school, while organizing and simplifying other things.”

When Cate was first diagnosed, she was treated at UNC Medical Center, under the care of Marsha Davenport, MD. Davenport, a former professor of pediatrics at UNC and nationally renowned expert on Turner syndrome, helped raise the profile of the syndrome and kick start UNC’s thriving research into it. Law, who trained under Davenport and has led the Turner syndrome program for two years, coordinates care for all Turner syndrome patients.

Since girls with Turner Syndrome are likely to experience symptoms that require the attention of specialists in multiple disciplines, Law has worked with colleagues across the UNC Medical Center to make certain that there is a point person for Turner syndrome patients in pediatric specialties like cardiology, psychology, and gynecology.

“Finding people who are interested in being a go-to resource for our patients and their families, who make a commitment to familiarize themselves with the condition and the latest research literature has been a huge asset, and I’ve heard from many of our families that they are appreciative,” Law said.

In addition to helping facilitate connections among providers, Law has seen the value in building connections among Turner syndrome patients.

Cate has a friend with Turner, who she says was incredibly helpful during Cate’s treatments. Other girls may not have met another girl with the condition. As a way to build community among these patients, Law works with the North Carolina Turner Syndrome Society to provide opportunities for patients and their families to make connections. Once a month, during Law’s Turner syndrome clinic, the Turner Syndrome Society works with Law to make space available in the UNC Medical Center for families to gather between appointments. Food and crafts are available for the girls. And the parents can meet and discuss care, treatment, and things that have been helpful for their families. Law also makes time to drop in and interact with the girls outside the exam room.

“From the families, I see great relief at the fact that they are able to make connections with others who are going through the same things they are,” Law said. “For me, I’m able to take myself out of the clinical setting and see them interacting, playing together, and just talking in a more relaxed atmosphere.”

Law said that as she advises patients and their families, she’s trying to cut through the fear of Turner syndrome and help them see a path forward.

“These girls and women are so much more than the syndrome they’ve been diagnosed with,” Law said. “I just want to stress to families that with the right treatment their daughter will grow up and have a bright future ahead.”

So, in many ways, Cate’s success and her current attitude towards her Turner syndrome represent the ultimate success story.

“For me at this point, I’d say it’s not that big of a deal,” Cate said. “And I won’t let it hold me back.”

Click here to read more about Turner syndrome research at the UNC School of Medicine.

 

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