What a Story!

Dr. Catherine Ward (center) , a geneticist at Akron Children's Hospital in Akron, Ohio, laughs with Joleen Viront (left) and Jennifer Stein, both genetic counselors on Nov. 1, 2007. The 4-foot, 8-inch geneticist has Turner syndrome, a genetic disorder that causes short stature. (Lew Stamp/Akron Beacon Journal)


Doctor's size is a big benefit
Geneticist tells parents not to limit daughters

By Cheryl Powell
Beacon Journal medical writer



Dr. Catherine Ward might be small in stature, but she's definitely not short on ambition and dedication to helping patients.

After all, the 4-foot, 8-inch geneticist at Akron Children's Hospital knows firsthand the struggles that can go along with having a genetic disorder.

During her childhood, her own doctor became suspicious about what Ward now jokingly refers to as her ''lack of growth curve'' and recommended testing to find out the reason for her failure to grow.

Consequently, Ward was diagnosed at age 7 with Turner syndrome, a chromosomal condition that affects about one in every 2,000 to 2,500 girls and women.

Females with Turner syndrome are missing all or part of their second sex chromosome. Those with the syndrome usually are short, experience ovarian failure and infertility and can suffer from other health problems.

But Ward hasn't let her medical condition stop her from becoming a doctor, as well as a respected national leader for the thousands of girls and women who share her diagnosis.

Starting in January, Ward will take over as president of the Turner Syndrome Society of the United States. The national nonprofit group is dedicated to creating awareness, promoting research and providing support for patients and families.

''This has just been part of my life,'' Ward said of her genetic condition. ''I think I have pretty much tried to make it part of my life but not an overwhelming issue.

''We're women who do everything
we want to do, for the most part.''

In her national role as a spokeswoman and advocate for Turner syndrome, Ward wants to get more medical experts involved in the organization and its efforts.

''One of the things I'd love to do — and I feel I'm in a unique position to do — is expand the professional participation,'' she said.

Syndrome symptoms


Turner syndrome first was recognized by Dr. Henry Turner, who published a report in 1938 about seven girls who shared a number of features.

Though every patient differs, the majority of girls and women with Turner syndrome are less than 5 feet tall and unable to conceive a baby without special medical treatment.

Other features can include arms that turn out slightly at the elbow, webbing of the neck, low hairline in the back, a narrow and high-arched palate, broad chest, and narrow fingernails and toenails that point upward.

Affected girls and women also are at increased risk for heart defects, high blood pressure, kidney problems, osteoporosis, hypothyroidism, immune system problems, ear infections and hearing loss.

The syndrome does not affect intelligence, though some females can have specific learning disabilities in nonverbal areas.

Some patients are diagnosed before or shortly after birth, while others aren't diagnosed until they fail to grow as children, Ward said. Others don't discover they have the disorder until they fail to begin menstruating during adolescence or they abruptly stop having periods at an early age because of ovarian failure.

Hormone treatment


When Ward was diagnosed with the chromosomal disorder in the early 1980s, growth hormone therapy was considered experimental and rarely used, she said.

Today, most girls are treated with growth hormone to help them grow faster and potentially reach a normal adult height of more than 5 feet.

''Growth hormone is now a standard of care for Turner syndrome,'' she said.

Many Turner syndrome patients also require estrogen therapy to start puberty.

Ward, 34, joined the genetics department at Children's about two years ago after completing her genetics fellowship at the University of Texas Health Science Center in Houston.

In her role at Children's, Ward works with people who are being tested and treated for a variety of genetic disorders.

She also serves on the multi-disciplinary team for the hospital's skeletal dysplasia clinic, where, she said with a grin, she works regularly with patients ''who are smaller than me.''

Patients often look at her and say with excitement, ''Hey, you're little, too!''

If people ask, she said, she'll talk about her condition, especially with families who are discovering their daughter has Turner syndrome.



''I really feel like that's helpful,'' she said.

Her own experiences have prompted her to encourage parents not to limit young patients who are diagnosed with genetic disorders.

Helping parents


Ward's parents (both educators) held her to the same high standards that they set for her siblings and expected her to excel, she said.

''I think that was something that's been very important to me and I talk about a lot with Turner syndrome parents,'' she said.

Lori Jones and her husband, Ken, are taking that approach with their 12-year-old daughter, Whitney, who was diagnosed with Turner syndrome about two years ago.

''We tell her, don't let the frustration bother her,'' Lori Jones said. ''She can do whatever she wants.''

The Cuyahoga Falls couple and their daughter attended an inaugural Turner syndrome regional conference that Ward helped organize at Children's in January. Another conference is planned for next January.

Gaining acceptance


''Having her here is helpful,'' Lori Jones said of Ward, ''because she's going to bring awareness.''

Whitney said she enjoyed meeting Ward and others with Turner syndrome.

''I felt it was good to talk with her, to know that I'm not the only person who has it,'' Whitney said.

The seventh-grader at Immaculate Heart of Mary said it used to bother her when other children made fun of her because she's short.

Whitney is about 50 inches tall. The average height for a girl her age is at least 60 inches, or about 5 feet tall.

''As I got older, I learned to accept myself more,'' Whitney said. ''Everyone is special in their own way. We just need to accept ourselves for who we are and don't care what other people think.''





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Cheryl Powell can be reached at 330-996-3902 or chpowell@thebeaconjournal.com.