Turner Syndrome Tot Wins Life's Lottery

PHOTO: Catherine Ward-Melvin and daughter Zoe
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Dr. Catherine Ward-Melver has known since she was young that she would be unable to have children. At 4-foot 8-inches tall, she was born with Turner syndrome, a genetic condition that causes short stature and, among other things, malformation of the ovaries.

Ward-Melver, who is a geneticist at Akron Children's Hospital in Ohio, had never met another girl with Turner syndrome until she went to medical school. But now, she has adopted 4-year-old Zoe, who also has the condition.

Zoe arrived from China last winter and has delighted her new family. The little girl's first language is English because she had been raised in a foster home in China by American parents, rather than an orphanage.

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Ward-Melver hopes to get her daughter not only the best medical care, but supportive contact with other girls who have Turner syndrome.

"We are having a lot of fun," said Ward-Melver, 40. "Overall, it's been relatively very easy for this little girl, especially her age. She has opinions and she is not afraid to voice them. She bonded with us very quickly, much more quickly than we expected."

Zoe is likely to grow taller than her adoptive mother, who was diagnosed at age 7, because of the availability of growth hormones. Those medicines were experimental when Ward-Melver was a child.

"There's a critical difference between being four-foot-eight and five feet in terms of practical things," she said. "It's not just major discrimination, but things like clothes fitting. The world is built for someone taller."

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As past president of the Turner Syndrome Society, Ward-Melver is one of the leading experts in the country.

"So Zoe is really in the best of hands," said Holly Pupino, a spokesman for Akron Children's Hospital, which will host a conference for women and girls like Zoe and her mother in November.

"This little girl, she basically won the lottery, in a sense," Cindy Scurlock, the society's executive director, told the Akron Beacon Journal. "Catherine is great. She's definitely an excellent doctor. She knows everything about Turner syndrome because she has it."

Turner syndrome is a genetic condition that only affects women. It occurs when one of the two X chromosomes is missing or incomplete. It was named for Dr. Henry Turner, who was among the first to describe the features in the 1930s.

An estimated 71,000 American women and girls are living with the condition, according to the Turner Syndrome Society. It is associated with identifiable physical features, such as short stature, incomplete sexual development, ovarian failure and infertility.

Many other organs can be affected, like the heart, kidney and even the ears and palate. Some autoimmune conditions have also been associated with Turner syndrome.

Doctors do not know the cause and there is no cure, but there are now treatments to help patients.

In addition to growth hormones, girls can have estrogen therapy to induce sexual development at puberty.

Ward-Melver and her husband, Kevin Melver, had been thinking about adoption, but the timing of Zoe's arrival was unexpected.

"It was a confluence of events," she said. "There are a very small handful of families in the Turner Syndrome Society where Turner syndrome moms have adopted Turner syndrome girls -- only four we know of."

"Pretty early on, I had thought about options of assisted reproductive technology with donor eggs," said Ward-Melver. "But there are some health risks in Turner syndrome women, particularly in the heart. But I never felt like it was for me."

"My feeling of needing to carry a child nine months was not strong enough," she said. "A lot of kids need homes. My husband and I talked about it well before we got married and we were on the same page."

First they signed up as foster parents, hoping to eventually adopt. But they jumped at the chance to adopt when the Turner Syndrome Society told them American foster parents living in China were looking for more information.

"It was backwards from the usual way you apply and get approval late in the process," said Ward-Melver.

In November the couple went to China to meet Zoe and in December the adoption papers were formally approved.

So far, Zoe is not "thrilled" with the daily growth hormone shots, but is "doing all right," said Ward-Melver.

"Hopefully, we will see a lot of growth," said her mother. "You can see it at the [Turner Syndrome Society] meetings. You look at the women who did growth hormones and those who didn't, and you can see a significant height differential."

Zoe also has regular visits to the cardiologist and a hearing specialist, who found fluid in her ears and will put in tubes. She may soon take speech therapy at her new preschool, which she attends four times a week.

"But," said her mother of all the medical care, "we are trying not to overwhelm her."

Ward-Melver said she and her husband hope to eventually give Zoe a brother or sister.

"We are looking to start with a foster child who is available for adoption," she said. "Zoe loves being with other kids."

But in the meantime, Ward-Melver said of being a first-time parent, "I am loving it."

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