Three Children with Cystic Fibrosis: ‘Meant To Be’   

from Children's Magazine, Summer 2006

Story by Melissa Howell

Photography by Tia Brayman

Dan and Donna Shkapich thought the odds were in their favor.

When their third child, Devin, was diagnosed with cystic fibrosis (CF) during her first year of life, the couple discovered that they both carried the cystic fibrosis gene. Their first two children did not have the disease, and doctors told the couple that any future child had just a 25 percent chance of being born with the disease.

But when their fourth and fifth children, Dalyn and Daphne, were born, the couple received the difficult news that both children had cystic fibrosis. Since then, the Shkapich family has learned to adjust to life with three children with CF. It is a life that includes frequent visits to The Children’s Hospital and daily treatments at home. It is a life in which they have committed themselves – through raising funds and participating in research studies – to finding a cure for the disease that impacts their lives on every level.

A Life-Threatening Disease

Cystic fibrosis is a life-threatening genetic disease affecting approximately 30,000 people in the United States. The defective gene causes the body to produce a faulty protein that leads to abnormally thick, sticky mucus that clogs the lungs and can result in fatal lung infections. The mucus also obstructs the pancreas, which can block the bile duct in the liver and can make it difficult for a person to absorb the nutrients in food. This can eventually cause permanent damage in approximately 6 percent of people with CF.

Children with CF are at risk of losing too much salt in their sweat and can get dehydrated quickly. Common symptoms can include: very salty-tasting skin; persistent coughing; frequent pneumonia, wheezing or shortness of breath; a failure to gain weight at the normal rate, perhaps with excessive appetite; and difficulty in having bowel movements or frequent, abnormal bowel movements. In addition, CF can cause reproductive problems; more than 95 percent of men with CF are sterile.

In Colorado, cystic fibrosis is most frequently diagnosed at birth. In 1987, Colorado became the first state to adopt statewide newborn screening for CF as dictated by state law. Frank Accurso, MD,  and several of his colleagues conducted research in support of newborn screening for CF. Dr. Accurso, director of The Children’s Hospital’s Cystic Fibrosis Center, is a professor of Pediatrics at the University of Colorado at Denver and Health Sciences Center.

“It was clear, based on some research we had done, that getting infants treatment early helped in a lot of ways,” Dr. Accurso said. “It helped avoid complications, and they had better outcomes.”

According to Dr. Accurso, 19 states currently screen newborns for CF. He said he expected the entire nation to screen newborns for CF within a few years.

Devastating News

When Devin Shkapich was born nine years ago, her newborn screen detected high levels of trypsinogen, an enzyme produced by the pancreas. However, her levels didn’t quite reach CF-positive, so she had several sweat tests in her first year. Sweat tests measure the amount of chloride (salt) in the sweat, as children and adults with CF have higher levels of chloride. Finally, around her first birthday, Devin’s levels indicated she did indeed have cystic fibrosis. Since then, geneticists at Children’s have done genetic testing on Devin, and found her two cystic fibrosis genes; the CF gene is called DeltaF508.

Dan and Donna Shkapich were devastated with the diagnosis. They have no family history of CF, but they learned that they each are carriers of the CF gene. A child needs to inherit one gene from each parent to have the disease. Therefore, if both parents are carriers, each child has a 25 percent chance of having CF; a 50 percent chance she will be a carrier but not have the disease; and a 25 percent chance she won’t have CF or be a carrier.

“It was a shock to both of us,” Dan said. “It was going to change our family and the way we care for her. Devin has been a fighter her whole life. When we got the diagnosis, we thought, ‘If anyone can handle it, she can.’ She has a fighting personality that can conquer anything.”

Despite the risks, Dan and Donna decided to have more children.         

“For us, it was certainly a decision based on faith, that absolutely we’ll have more children, and if they have this, then we’ll care for them and love them just like the rest of our children,” Dan said.

When their fourth child – and only son – Dalyn, now 7, was born, Donna said she was convinced he didn’t have CF.

“It was a shock,” she said. “It still is.”

Then, when Donna was pregnant with Daphne, their fifth child, she had an amniocentesis to determine if the girl, now 2, had CF. The results showed Daphne only had one CF gene, and that she didn’t have the disease.

“We were celebrating!” Donna said.“Then they came back two days later and said, ‘We found the other gene, she does have it.’”

“With each diagnosis, it was hard,” Dan said. “You had your time, perhaps a grieving period, where you’re like, ‘The next one’s not going to have it,’ and the next one got it. And the third one.”

“They knew the risks and they wanted more children; they felt that in their hearts,” said Meg Anthony, LCSW, MSW, research coordinator in Children’s CF Center. “They have tremendous faith and sense of their life plan and family plan. They handled the other diagnoses with a lot of faith; they have a really strong family bond and they knew it was going to be OK. They couldn’t see the whole future but they knew this was something that is supposed to be their life story.”

‘They Give Us Hope’

Children’s Cystic Fibrosis Center cares for more than 500 families, many of whom have more than one child with CF.

It is one of the top three CF centers in the nation in terms of number of patients. Children’s Cystic Fibrosis Center cares for patients from Texas, Nebraska, New Mexico, Utah, Kansas and Wyoming. In addition to the main CF Center at Children’s, caregivers travel to outreach centers in Billings and Great Falls, Mont., and Colorado Springs.

Dr. Accurso said providing outreach care is a benefit to patients because CF care is very specialized.

“In addition, we work very closely with the private community in each of these towns so that most of the care is done by local practitioners,” he said. “We’ve trained them to care for these patients.

“We believe our program has a very can-do attitude. We have optimistic people who see the potential in each child with CF and will work with the families to help them realize their potential.”

Caring for a child with cystic fibrosis requires up to an hour or two of daily care at home and frequent trips to the hospital. Devin, Dalyn and Daphne each take an inhaled mucus-thinning medication, Pulmozyme, daily through a nebulizer, in addition to using “The Vest” each day. The Vest causes intense vibration, which breaks up the mucus in their lungs. Between intervals, they do the “huff” cough, which allows them to cough up the mucus. When Daphne was younger, she developed Pseudomonas, a serious lung infection that is common among CF patients, and was on twice-a-day inhaled antibiotics for a month.

Every three months, Devin, Dalyn and Daphne visit the Cystic Fibrosis Center at Children’s for an intensive day of clinic visits. They see physicians, nutritionists, social workers, pulmonologists, nurses, lab technicians and radiologists. Donna says the children handle their visits well, especially Devin, whom Donna said has a “crush” on Dr. Accurso.               

“He’s nice and he’s a good doctor,” Devin said.

“And he’s pretty cute,” adds Donna. Devin giggles.

“From a tiny baby, she loved to go see him,” Donna said. “She always wanted to go to the ‘big hospital’ to see him.”

“Devin often brightens up our whole clinic by bringing pictures for us and she also dresses well and brightly so we can be as upbeat as she is,” Dr. Accurso said.

“I tell Dr. Accurso how I’m doing and that I’m doing well with my lungs and my treatments,” Devin said. “The Vest feels really weird, but it’s actually helping more with my mucus.”

But according to Dan and Donna, the care the family receives is more than physical.

“They care for us emotionally in every single aspect,” Donna said.

“They give us hope – hope for a cure, for a better day,” Dan added. “They give us peace and motivation.”

Katie Lieberman is a social worker in the Cystic Fibrosis Center. Her role is to help support families through any stage of the illness, including diagnosis, a new phase of treatment, a hospitalization or a procedure. She even helps families find resources to pay for treatment or manage insurance.

“We assist the whole family because typically cystic fibrosis can be such a stressor on families,” Lieberman said. “We support the whole family no matter what the issue is and we are really advocates for them.”

Donna said that when Dan lost his job last year, Katie put the family in touch with a drug company and did all the paperwork to secure a grant that provided health insurance for a year. In addition, CF Center staff raised money for the family and sent a check to the Shkapich family.

“This shows what kind of people work at Children’s and the CF Center,” Donna said.

Lieberman said it is common for siblings without cystic fibrosis to struggle to understand their roles in the family, to fear for their siblings or to have guilt about why their sibling has CF and they don’t.

But Dan and Donna say their oldest girls, 13-year-old Danielle and 11-year-old Demi, haven’texperienced that.

“The older girls are their biggest fans,” Donna said. “They’ll even help them with treatments.”

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