Hoboken, NJ, residents Casey and Bryan Kirsch were overjoyed to find out they were pregnant with a boy. But at a 12-week ultrasound, Casey’s doctor noticed something unusual and referred her to a high-risk pregnancy specialist in northern New Jersey.

It was there that their son was diagnosed with giant omphalocele, a rare birth defect that occurs when the abdominal wall fails to close and the bowel, liver and other organs protrude into the base of the umbilical cord, covered by a thin membrane.

“I didn’t even know how to spell it,” recalls Casey. “That first night was terrible. I couldn’t stop crying. I had to promise the doctor that I understood it wasn’t my fault, it was nothing I did.”

Casey and Bryan were determined to give their son every chance to live a healthy life, so their doctor referred them to the Center for Fetal Diagnosis and Treatment (CFDT) at Children’s Hospital of Philadelphia. The CFDT is one of the most experienced fetal treatment centers in the world, with unparalleled expertise caring for babies with complex birth defects, including giant omphalocele. Since the Center opened in 1995, the team has cared for more than 1,000 babies with gastrointestinal abnormalities.

Planning the best course

At 18 weeks gestation, Casey visited the CFDT for the first time, where she underwent what she calls “the gauntlet,” a day of advanced prenatal imaging tests to confirm the diagnosis and plan the best course of treatment.

Knowing that their baby would require specialized care immediately after birth, Casey and Bryan were drawn to the Center’s Garbose Family Special Delivery Unit (SDU), the world’s first birth facility specifically designed for mothers carrying babies with known birth defects.

Between the team’s experience with treating omphalocele and the additional support services that would be available to both Casey and their son before, during and after birth, the couple knew there was nowhere else they would consider for their care.

Support and care

After going into early labor at 36 weeks’ gestation, Casey relocated to be closer to CHOP. At 5:30 a.m. on July 12, 2011, Jackson Frederick Kirsch was delivered via C-section in the SDU. The support she received from the team while waiting for Bryan to arrive stands out clearly in Casey’s memory.

“Karen (certified nurse midwife Karen Pesta, MSN, CNM) was my surrogate husband holding my hand helping me through labor,” recalls Casey. “She and Nahla (attending obstetrician Nahla Khalek, MD) became my support group. Once he was born, he needed machines of all kinds to survive, and the loving care of an entire team of people — nurses, doctors, social workers — watching out for both us."

Jackson was immediately stabilized by a team consisting of pediatric surgeons, neonatologists, specially trained nurses and respiratory therapists, all with extensive experience treating babies with omphalocele. Because so much of the baby’s abdominal contents develop outside the body, giant omphalocele is frequently associated with complications related to small belly size and underdeveloped lungs.

Slow but steady progress

Jackson’s exposed organs were covered with a protective wrap, with the plan to allow the organs to gradually return to the abdominal cavity with the aid of gravity. This process can take anywhere from several months to years. This conservative approach, which gives time for the lungs to continue to grow without immediate pressure of surgical closure, is called “paint and wait.” The sac covering the omphalocele is “painted” with an antibiotic cream while the skin gradually grows over the sac.

Jackson stayed in CHOP’s Newborn/Infant Intensive Care Unit (N/IICU) for two months while doctors monitored his progress closely and the team taught Casey and Bryan how to manage dressing changes and his feeding tube.

With his omphalocele shrinking and his abdominal organs slowly moving back into his abdomen, Jackson was sent home with the plan to complete a surgical repair once he was stable from a respiratory and nutritional standpoint.

At that time, the sac is wrapped with an elastic bandage. The elastic bandage is gradually compressed, which slowly pushes the omphalocele contents back into the child's abdomen. Once all of the organs are returned to the abdomen, the omphalocele is closed surgically. In some cases, a staged surgical repair may be performed.

On the day before his first birthday, with all of his organs fitting back inside and a pulmonary function test (PFT) indicating that his lungs were strong, pediatric surgeon Holly Hedrick, MD, performed surgical closure of the omphalocele.

After a week of recovery, Jackson was ready to go home, where he continued to make strides and reach new developmental milestones.

Checking in on Jackson

Now 6 years old, Jackson is thriving. He loves going to school, playing outside with friends, and playing with Legos. He is obsessed with fire engines and police vehicles.

Jackson had another surgery with Dr. Hedrick in 2016 to repair an undescended testicle, which is common among young boys. After a smooth recovery he was quickly back on his feet.

“Jackson possesses an enviable love and zest for life,” says his mom. “Nothing slows him down or stops him from enjoying physical activities that provide an outlet for his boundless energy, including swimming, soccer and jiu-jitsu, with plans to start tee-ball and basketball this spring.”

While the questions as to why Jackson does not have a belly button exactly like everyone else have started to come up, Jackson isn’t fazed by it.

“He doesn’t shy away from sharing WHY he’s proud to have the scar he does, as it represents his strength and remarkable story,” says Casey. “His scar is yet another reminder that we are ALL different, and acceptance of such is what makes this world so beautiful.”

Long-term care

Children with conditions like giant omphalocele can face a variety of complications as they grow, including a secondary condition called pulmonary hypoplasia that may result in problems with breathing, feeding, heart function, hearing and other developmental milestones. This makes ongoing follow-up care an extremely important element of long-term treatment.

Jackson is one of several hundred children enrolled in CHOP’s Pulmonary Hypoplasia Program (PHP), a comprehensive program that provides complete care for babies with conditions that cause small lungs. Through the PHP, CHOP is the only institution studying the neurodevelopmental outcomes of patients with pulmonary hypoplasia.

“The ongoing follow-up care brings a mixed bag of emotions,” says Casey. “It’s tough, but it’s this incredible resource and you know it’s best for your child. And of course we’ll do anything to help parents who are in a similar situation down the road.”

Casey credits the support they’ve had every step along the way for getting them through it — from their doctors and nurses and social workers at CHOP, to friends, family and other patient families they’ve met throughout Jackson’s journey.

“Each case can be as unique as a fingerprint, but it helped me to share my emotions and talk to other parents facing this,” says Casey. “Know you’re not alone in this and you’re going to have the best team of professionals in the world behind you.”

Originally posted: February 2013
Updated July 2017