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Mom hopes to raise awareness of daughter’s condition

Editor’s note: This story will appear in Healthy Living on Sunday, May 6.

By CATHY DYSON

When Kristie Hurst looks back at the events surrounding her daughter’s birth—and eventual diagnosis with a rare disease—she has to believe there’s a purpose to everything that happens in life.

“I feel like she overcame quite a few obstacles to be here,” Hurst said about her baby girl. “There’s got to be a reason.”

Hurst had her tubes tied after her second child was born, then got the surprise of her life almost eight years later. That’s when she became pregnant with Jacey, who was born on Aug. 27, 2010.

It’s rare but not unheard of for women to conceive after tubal ligation, or having their fallopian tubes tied. Medical websites say the procedure is 99 percent effective in preventing pregnancies, but the effectiveness rate does decline slightly after the first year.

The pregnancy was the first of several shockers for  Hurst and her husband, Johnnie, who live in Unionville in Orange County. Hurst, now 38, learned the day she came home from the hospital with Jacey that she’d lost her job with a community agency.

Soon after Jacey was born, Hurst, who has two older sons, Philip, 18, and Johnnie, 10, noticed that “something wasn’t right” with Jacey, but couldn’t identify the problem. Doctors couldn’t, either, except to say her baby had been born with a heart murmur and eyelids that drooped slightly.

FINALLY, A DIAGNOSIS

The Hursts pushed for more tests, to give a name to the lingering suspicion that something was amiss in Jacey’s actions and appearance.

When Jacey was 14 months old, a cardiologist did a genetic screening that determined she had Williams syndrome. That was the first time her parents had ever heard of the disease, caused when part of a chromosome is deleted during conception.

In most cases, the child with Williams syndrome is the only one in the extended family to have it, according to the Williams Syndrome Association. It causes various types of cardiovascular disease, including some so severe that  open heart surgery is required. It also includes a range of developmental  issues, learning disabilities and problems with eating and hearing, kidneys and hernias.

Now 20 months old, Jacey has pulmonary stenosis, a narrowing of the artery from her heart to her lungs, which causes shortness of breath. She has had surgery to correct the way her eyes turn in, and her mother suspects she has issues with depth perception.

Hurst believes that’s why Jacey cries a lot when she tries to stand by herself. She’s about six months behind the normal age when babies toddle on their own, but she’s plenty active—and flexible—as she crawls and scoots on the floor. Her favorite game is to stand in her mother’s lap. She clasps her mother’s hands and jumps up and down on the balls of her feet.

Williams syndrome affects one in 10,000 people worldwide, or an estimated 20,000 to 30,000 people in the United States, according to the Williams Syndrome Association. Hurst has met many health care providers who are as clueless as she was.

“I feel inadequate trying to explain Williams syndrome because I don’t understand it myself,” the mother said. “But I just have to feel like I’m doing something for her.”

A QUEST FOR KNOWLEDGE

All her life, Hurst has believed in two basic premises: Things happen for a reason, and the more she knows about something, the better she understands it.

Her quest for knowledge about Williams syndrome led to a professor at the University of Kentucky who has studied the disease for 18 years. Dr.  Carolyn Mervis, who couldn’t be reached for this story, wrote the profile commonly accepted for Williams syndrome patients, according to the association’s website.

Hurst takes Jacey to Louisville once a year for an exam. She also talks on the phone with the doctor monthly. She asks if the allergies and acid reflux—which both her sons had—are worse for Jacey because of the syndrome. She wonders how Jacey’s vision problems may interfere with her walking. She asks about weight gain and tells her how Jacey is coping with whole milk.

Sometimes Hurst doesn’t get her questions answered, especially when she wonders what kind of life her child might have as an adult. So Hurst deals with one appointment at a time. She regularly sees specialists at the Lee’s Hill office of Children’s Hospital of Richmond at VCU.

When Mervis said Jacey needed more physical therapy, her  mother scheduled sessions once a week.  She arranged for speech therapy. She consulted with other parents she met through the association’s support group.

“It’s amazing how much information that a Williams syndrome  family has that the doctors don’t have, because they’ve been through it,” said Erin Rupolo, a mother in Rockville, Md., whose 3-year-old daughter has the condition.  “We share triumphs, we share the sad stuff, the medical questions. The support is amazing.”

RAISING AWARENESS

Hurst and her family have always been private people, but she decided it was important to raise awareness of Williams syndrome. She scheduled a walk, picnic and family fun day on Saturday at the Ron Rosner YMCA in Spotsylvania County.

Hurst is hoping at least 50 people will participate in “Jacey’s Walk for Williams,” one of about 100 events during Williams Syndrome Awareness Week.

Lora Schoenberger, who lives in Spotsylvania County, hopes the walk will encourage other parents who feel  something is wrong with their child to press for  a diagnosis as Hurst did.  Schoenberger’s sixth child, Talysa, has Williams syndrome.

Rupolo admires Hurst’s courage in going public with her private battles. “I think she’s amazing,” Rupolo said. “So many people can climb into a hole and just be silent. It’s so important to raise awareness.”

Hurst might call it her reason for being.

ABOUT THE EVENT

This is the third year of Williams Syndrome Association Week, May 5–13. Kristie Hurst of Orange County has organized the first local observation, planned for Saturday, May 12, at the pavilion  at the Ron Rosner YMCA in Spotsylvania County.

The event begins at noon and includes face painting, a picnic lunch, a raffle and a walk.   The Williams Syndrome Association will provide free T–shirts to registered walkers.

 The cost is $15 per person or $40 for a family of four. More information is available at walk4williams.org or 800/806-1871.

A SENSE OF PURPOSE 

When Kristie Hurst ponders the reasons things happen, she thinks about her daughter, Jacey, and her late father, James Cooke. Her father was her best friend. They ate lunch together almost every day and talked regularly until he died of cancer in June 2009.

A few months later, she became pregnant with Jacey—something she thought wasn’t possible because she’d had her tubes tied eight years earlier. Hurst used her father’s initials—J.C.—to form her daughter’s first name.

“When he died, I wondered how in the world I was going to get along without him,” Hurst said. “Sometimes I think that she’s here so that I could get through it.”

ON THE NET: Williams Syndrome Association: williams-syndrome.org.

Cathy Dyson:   540/374-5425

cdyson@freelancestar.com

Permalink: http://news.fredericksburg.com/healthyliving/2012/05/04/mom-hopes-to-raise-awareness-of-daughters-condition/

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