Omphalocele: Charlie's Story

When Gayle and Charles Hughes, Woodbury, NJ, became pregnant after several miscarriages, the couple was overjoyed. But after Gayle's obstetrician recommended an advanced ultrasound to monitor the baby she was carrying, the joy turned to alarm.

The male fetus had a giant omphalocele that involved all his internal abdominal organs: liver, intestines and stomach. The local hospital's recommendation: terminate the pregnancy.

An omphalocele is a birth defect that causes the abdominal organs to herniate or protrude into the base of the fetus's umbilical cord. The herniation can vary from small — involving only a portion of the small intestine — to very large, containing most of the abdominal organs. When a giant omphalocele is present, the majority of the liver protrudes into the umbilical cord.

Charlie was one of the first patients at the Center for Fetal Diagnosis and Treatment, where he was treated for giant omphalocele.

Fetuses with omphalocele also are at an increased risk for other birth defects such as cardiac or neural tube defects, problems involving the intestines or urinary tract, or life threatening chromosome anomalies such as Trisomy 18.

"It was a stressful and scary time," Gayle recalls. "We weren't sure that he would survive."

Further chorionic villus sampling (CVS), however, indicated some good news: the fetus had no chromosomal abnormalities.

One of CHOP's first fetal patients

The couple then sought out help from a new specialty center: the Center for Fetal Diagnosis and Treatment at The Children's Hospital of Philadelphia. They became one of the Center's first patients.

"The Children's Hospital staff was so reassuring," Gayle says. "They told me they could fix the omphalocele if other conditions could be ruled out."

At the Center, testing was done to evaluate any possible lung, heart or spinal problems. Gayle had a detailed level II ultrasound, a fetal echocardiogram of the fetal heart and an ultrafast fetal MRI. And when the Fetal team met with the couple, the news was even more positive. The baby's heart was functioning well, there were no neurological problems detected, and his spine was developing normally. The only potential problem was that his lungs were small.

Surgery could be performed to return the herniated abdominal organs back into the abdomen after the baby was delivered. Gayle became a high risk pregnancy patient and was monitored closely throughout her pregnancy with weekly ultrasounds.

Born at 38 weeks gestation

Baby Charlie was born at the Hospital of the University of Pennsylvania on Nov. 19, 1996, at 38 weeks gestation. Delivered by a scheduled Cesarean section, he weighed 6 lbs., 4 oz. He was immediately taken to Children's Hospital's Newborn/Infant Intensive Care Unit (N/IICU).

"The hardest part," says Gayle, "was that I only saw him for a second and then had to wait until the next day to see him when I was taken by wheelchair over to Children's Hospital."

She points out that with the opening of the new Garbose Family Special Delivery Unit, babies and mothers now will be in the same facility. "There won't be any separation," she notes.

Surgeries to repair omphalocele

Charlie was in the N/IICU for 77 days, and in the first four weeks of his young life he underwent seven surgeries to return the herniated organs to his abdomen. Born with small lungs, he also was on a ventilator until the beginning of January.

When Gayle recalls the time spent in the N/IICU, she lauds the caring professionalism of the nursing staff.

"The nurses were so understanding and highly trained," Gayle said. "Even having such a sick baby, I felt comfortable he was receiving the best possible care."

The doctors also kept the Hughes informed every step of the way, she adds. "We were always told what was going on; we were never left in the dark."

Going home and early intervention

When Charlie came home at the end of January, challenges still lay ahead for his parents.

"Having the omphalocele repaired in the hospital was just the beginning of the process," says Gayle.

Most babies with this defect don't eat well, and Charlie was no exception. He had a feeding tube to provide a high calorie diet. He also was on oxygen for the first year.

Before Charlie came home from the hospital, Children's Hospital staff taught the Hughes how to insert and care for the feeding tube and oxygen. This was just one example of the tremendous chain of support at Children's Hospital, says Gayle, who herself now is a resource for other families with babies with omphalocele. "It makes us all a little smarter and a little less scared."

When Charlie was home, the local school system also provided early intervention services that included physical and occupational therapy and a feeding specialist.

'Miracle boy' always on the go

Charlie continued to thrive. By age 2, he was eating normally. By age 3, he had finished his intervention programs. 

Now, he's is in fourth grade. The boy who was slow to crawl — since he didn't like to be on his abdomen is constantly on the go. He and sister Annie, age 8, are on the swim and soccer teams, ride their bikes and roller blade, play baseball and study the piano. The only restriction, said Gayle, is the Hospital's recommendation that Charlie avoid impact sports like football and boxing. "And that's fine with me," Gayle laughs.

"He's also at the top of his class," his proud mom adds.

Now the couple calls the active 10-year-old their "miracle boy."

"We went to Children's Hospital thinking we wouldn't be able to have a baby," Gayle says. "Now we have our 'miracle.'"

Originally posted: June 2009