Perryville sisters dealing with rare genetic disease

PERRYVILLE, Mo. — Kaylee learned how to blow kisses while in the hospital. She gives them out indiscriminately, stealing nurses' hearts with her smile.

Wendy, with the help of new hearing aid "ears," now talks nonstop. After 65 days in the hospital, she is getting close to release, if breathing problems subside.

The Kirkpatrick sisters both had cord blood transplants in April, exactly one week apart. They have Hurler syndrome, an enzyme disorder that can slowly cause mental retardation, organ failure and death by the age of 10 if untreated. Even with the transplant, the Perryville girls' future remains uncertain.

"The doctors haven't promised me anything. Everything is day by day," said their mother, Dessinna Boyer, speaking to the possible release of Wendy from the hospital.

Wendy has been sickly from birth, suffering from sinus infections, ear infections and, more alarmingly, hearing loss, Boyer said. An ear-nose-and-throat doctor in Cape Girardeau diagnosed the symptoms as infections.

Eventually, the family took Wendy, now 2 1/2, to a different doctor, who suggesting having X-rays taken immediately. A doctor in St. Louis diagnosed Hurler syndrome.

Doctors recommended a bone-marrow transplant, and Kaylee, who turns 1 on Saturday, was tested as a match. "That's when we found out she had it, too," Boyer said.

No one in the family had heard of Hurler syndrome before, said Paula Steele, Boyer's sister. "I don't even exactly understand. It's just such a strange one," she said.

People with Hurler syndrome lack enzymes that break down sugar molecules called glycosaminoglycans, known in the medical world as GAGs. GAGs accumulate in the body, causing damage to bones, tissues and organs. According to the Children's Organ Transplant Association, about 1 in 100,000 people have Hurler syndrome.

The recessive genetic disease can cause dwarfism, hearing and sight loss, breathing problems, enlarged livers and spleens, abnormal curvature of the spine and joint stiffness. According to the National MSP Society, GAG storage in the brain leads to the slowing of development by 1 to 3 years of age, "followed by a progressive regression in skills until death."

"Transfusion is the only way to stop the retardation," Boyer said. Along with chemotherapy, both girls received cord blood transfusions at Duke University Medical Center in Durham, N.C.

The center is an authority on transplants, Boyer said. Duke was the first center to use umbilical cord blood from unrelated donors to cure life-threatening cancers, rare immune deficiencies and metabolic diseases, its Web site says.

The girls have hit plenty of milestones while there. Kaylee started standing up for the first time last week. She's begun to talk, saying "thank you," "good job" and "grandpa." Last week the girls met comedian Jeff Foxworthy, who came to cheer up patients.

Kaylee was recently released from the North Carolina hospital and is staying at an apartment with grandparents about five minutes away. Even after Wendy is released the girls will still have to stay in North Carolina until at least mid-August so they can be constantly monitored.

Boyer and the girls' father, Toby Kirkpatrick, rotated coming to North Carolina to be with the girls. One parent would stay in Perryville with Boyer's two other children, aged 12 and 16, and work; the other would sleep on a Murphy bed in the hospital with Kaylee and Wendy. Every two weeks they would switch.

"For me, it was horrible. ... They had their transplants when I wasn't there," Boyer said.

Boyer has since taken an indefinite leave from her job building patio doors, and last week Toby Kirkpatrick quit his job at Gilster-Mary Lee so he could join the family in North Carolina.

When the family returns to Missouri, they will most likely stay with Boyer's mother, who lives north of Ste. Genevieve, Mo. "Our house has a leaky roof and unfortunately a lot of mold, which could kill the girls. Until we replace the roof, we won't be coming back," Boyer said.

The stress of home repair costs adds to the stress of growing medical bills and North Carolina living costs. The family has adequate insurance, Boyer said, but other costs are a concern. And future surgeries are almost guaranteed, Steele said.

So far, the girls' bodies have mostly accepted the new blood. In a May 30 blog entry, Boyer wrote that 98 percent of Wendy's blood cells are donor cells, which "is exactly what we wanted to hear."

"For the whole family, this has been a reality check. It's been very chaotic. But everyone is really trying to work together to pull through," Steele said.

lbavolek@semissourian.com

335-6611, extension 123

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