A rare challenge, a rare chance: 1 baby in 10,000 has this defect. Erica's was the worst doctors had seen

McClatchy Newspapers (MCT) - Everyone knew from the start that Erica Nance would present challenges.

As a fetus, her abdomen failed to fuse shut in the early weeks of development, leaving all her organs outside her body instead of safely encased behind the rib cage, under muscle and sealed with skin. The anomaly, called a giant omphalocele, occurs in about one in 10,000 births.

But when Erica was born in August 2006, every challenge her family and doctors anticipated grew more complicated, forcing ever higher demands of human and technological know-how.

"The look on the surgeon's face terrified me," said Erica's mom, Lisa Nance, recalling the moment her baby was born by Caesarean section at Duke University Medical Center. The tiny girl was normal, except that her stomach, liver, spleen, intestines and colon dangled in a mass outside her body.

Most babies with omphalocele (om-FAL-oh-seal) have some part of their organs in place, making it possible, using time and gravity, to route the organs safely back inside. Not Erica. Her malformation was far larger than anything the Duke doctors had ever seen. And with everything exposed, her body had never grown an abdominal cavity.

"It went from skin to spinal column," said Dr. Jeffrey Marcus, Erica's plastic surgeon at Duke. "There was nowhere for the organs to go."

Erica was in dire circumstances, and the effort to save her life would last more than two years.

Doctors don't know what causes omphaloceles, except that something interrupts the normal process of fetal development when cells fuse along the midline of the abdomen. A related disorder called gastroschisis, which involves just the intestines, has been on the rise in the United States. Researchers at UNC Hospitals conducted a study earlier this decade and documented the rise in gastroschisis but found no corresponding uptick in omphalocele cases, said Dr. Matthew Laughon, who led the study.

"There is no understanding as to why this happens," Laughon said.

For babies with omphaloceles, the diagnosis can be doubly troubling. About 30 percent of children with the condition also have a chromosomal abnormality that can be fatal or result in physical disabilities and mental retardation.

Lisa Nance said her doctor at home in Fayetteville, N.C., said some parents terminate the pregnancy when omphalocele is detected during that first ultrasound scan.

"I couldn't do that," she said. "I just couldn't live with myself."

Further tests indicated that Erica did not have the chromosomal disorder and was otherwise healthy. So Lisa Nance arranged for family to care for her 4-year-old daughter, Chloe, and scheduled a C-section nearly two hours away at Duke, where doctors could immediately begin work on Erica's organs.

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Not until Erica arrived, however, could anyone understand the scope of her problem.

Among the most pressing concerns was the baby's ability to breathe. Without her liver and other organs tucked tightly under the diaphragm, Erica's lungs couldn't inflate properly. She had to go on a ventilator and a feeding tube. Still, doctors hoped they could coax Erica's organs into whatever space existed in her abdomen. Using a cone-shaped structure that relies on gravity to gently feed the organs into the body, they hoped that Erica, like most babies with omphalocele, would be able to go home in a few days.

"Days turned into weeks, and weeks turned into months," Lisa Nance said.

Doctors needed to create space in Erica's abdomen, so they decided to surgically insert a small, saline-filled balloon into the small cavity of her pelvis. Using a port open through the skin, they gradually filled the balloon with more liquid, causing it to expand the cavity.

When Erica was about 4 months old, surgeons tried once again to encase her organs internally. This time, everything fit. But a few days later, for reasons no one quite understands, Erica's blood quit clotting, and she began to bleed internally. Doctors had to remove all her organs again. They were back where they started.

"After all that, we decided we weren't going to do anymore," Lisa Nance says. "I needed her home."

The doctors agreed. They decided to buy time and figure out a new strategy. To shield Erica's mass of organs from infection, they covered it with skin grafts, using tissue harvested from the baby's thighs.

Erica went home to Fayetteville after nearly nine months _ a ventilator in tow, full-time nursing care on tap and treatment needs that at one point cost $44,000 a month. Lisa Nance, who tended bar before Erica was born, had not been able to work since her baby was born, so costs fell to Medicaid insurance.

Marcus, who is surgical director of Duke Children's Hospital, said Erica's situation presented a unique problem, because her body simply had nowhere to hold her organs. So he devised a novel way of making room. In addition to implanting the balloon extender in her pelvis, he implanted extenders on each side of her trunk. By gradually filling them with more liquid, these would grow enough skin to cover the distended organ mass like two trapdoors.

The youngster was fitted with a girdle of sorts that another doctor at Duke tailored from a bathing suit and fabric. It supported the organs and increasingly heavy bladders of saline.

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"She made tons of progress and we got to the point where we were ready to do something," Marcus said. "It looked like we had a reasonable chance."

Surgery was scheduled for November. The first step was to take the extenders out of her pelvis, and try to fit in as much bowel as possible. Some tucked in, but not all. And the liver remained exposed. Then they removed the balloon extenders on Erica's flanks, thinking they could cover the rest with those flaps of skin.

"It was not remotely enough," Marcus said, noting that only half the organs were submerged or covered.

There was no going back, since they had peeled off the skin grafts that had covered Erica's organs for more than a year. Marcus said they decided to cover the gap with a new synthetic material, a dense collagen substance fashioned from pig tissue. The hope was that it would bind with Erica's skin as it began healing.

After initially looking bleak, Erica's prognosis improved. Each day brought more progress, as her distended belly began receding and her organs began settling in the growing cavity. Two weeks ago, nurses began weaning her from the ventilator, and teaching her how to eat solid foods. On Friday, she was discharged from Duke, and headed home by ambulance. One day, she will be able to run and play like any other child.

"Not all that long ago," Marcus said, "she would have died in infancy. Where we won was resiliency. We didn't quit. We stuck with the plan, and it was a good plan."

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© 2009, The News & Observer (Raleigh, N.C.).