Jenni Pappas was 22 weeks pregnant with her second child when she found herself staring at her doctor in disbelief. The ultrasound image they were looking at showed a mass on her baby's chest so large that it had pushed the heart out of place. It was the baby's liver.
Stunned, all Jenni could manage to ask was, "is my baby not going to make it?"
Jenni’s unborn baby girl was diagnosed with a right congenital diaphragmatic hernia (CDH). Before that day, she had never heard of CDH, and she was not alone. Although CDH is as common as spina bifida and cystic fibrosis, affecting one in every 2,500 babies, many have never heard of the condition.
The cause of CDH is unknown. It occurs when the diaphragm doesn't form properly, leaving a hole in the muscle. The contents of the abdomen, including the liver, spleen, stomach and intestines, can pass through this opening into the chest, compressing the developing lungs and impeding their growth. CDH babies suffer multiple complications, and the condition can be fatal.
Finding help at CHOP
As Jenni and her husband Andrew came to terms with the diagnosis, their perinatologist in Memphis, TN, suggested they contact the Center for Fetal Diagnosis and Treatment at The Children's Hospital of Philadelphia (CHOP). Jenni and Andrew immediately flew to Philadelphia for an evaluation.
Once at CHOP, Jenni underwent a comprehensive series of tests, including a level II ultrasound, fetal MRI and fetal echocardiogram. A multidisciplinary team, including a maternal-fetal medicine specialist, clinical coordinator, social worker and pediatric surgeon Holly Hedrick, MD, who specializes in treating babies with CDH, helped them understand their test results and next steps.
“We were so impressed with the Center — the coordination of care, how they treated us during that evaluation, and the high number of CDH cases they see, plus high success rates,” explains Jenni. “They did a fantastic job of explaining CDH. They were clear that our baby’s case did look severe, but I left knowing she had a chance for survival. They couldn't know until after she was born, but all I needed to know was that she had a chance."
Developing a birth plan
During that visit, the couple worked with the clinical team to map out a plan for the pregnancy and the baby's birth. CDH babies are extremely delicate and their condition can change quickly and unexpectedly, making it critically important to choose a hospital where all aspects of specialized care are immediately available in one location.
The Children’s Hospital of Philadelphia is one of only a few U.S. hospitals offering such comprehensive care for a mother and her fetus before, during and after birth. CHOP’s Special Delivery Unit (SDU) is the world's first birth facility designed exclusively for mothers carrying babies with known defects, and it was one of the many factors that led the Pappas family to choose CHOP.
"There was no question that I would have the baby and the procedure at CHOP," says Jenni. At 31 weeks pregnant, she relocated to the Ronald McDonald House in Camden with her husband and their young daughter, so she could be near the Hospital.
The move wasn’t easy. From adjusting to the weather changes and juggling careers to caring for their daughter, making a temporary home in the Philadelphia area had its challenges. But the support of visiting grandparents as well as resources provided by the Center and Ronald McDonald House helped ease the transition. And the care and expertise they were getting from a team of the most experienced professionals across all disciplines was well worth the trip.
“When we left Memphis, we had no idea how long we'd be gone,” recalls Jenni. “It was very challenging to live so far away from home, but we were grateful for it. I wouldn't change what we did.”
Specialized care from the first moment
On Oct. 29, 2009, at 37 weeks, Cora Pappas was born in the SDU. With the support of CHOP’s obstetricians and midwifery team, Jenni was able to have the natural delivery she had originally planned. Since all mothers delivering in the SDU have particularly high-risk pregnancies, the full delivery team is always present in case of the need for an emergency C-section or any other unexpected complications.
“The staff is sensitive to the fact that all the babies will be born with immediate medical needs and possibly not make it after birth,” says Jenni about why her experience in the SDU was so special. “No one was giving me false hope. But they were also positive and encouraging at the same time. I appreciated the understanding and level of care I received.”
Immediately after her birth, Hedrick and the team worked to stabilize Cora. CDH babies require prompt placement of a tube to help them breathe and must have immediate access to specialized ventilation techniques.
"The baby with CDH needs expert multidisciplinary care from the first moment," says Hedrick. "It's one of the most challenging diagnoses we handle."
OR care in the N/IICU
That need for specialized care right from the start led CHOP to create a Neonatal Surgical Team, the only one of its kind in the world. What that means for babies like Cora is an attending neonatologist, attending surgeon, and a core team of advanced practice surgical nurses, all with unique experience caring for surgical neonates, right at her bedside in the N/IICU. This practice of bringing the OR to the N/IICU greatly decreases the risks associated with transporting delicate CDH babies.
When the tiniest detail matters, keeping the CDH patient in a stable environment without any disruptions can make all the difference. Cora underwent surgery in the N/IICU to repair the CDH when she was just 6 days old, and remained under the close watch of the surgical and neonatal teams, including pulmonary and cardiology specialists. At 6 weeks old, she had a second surgery to reinforce the patch that closed the hole in her diaphragm and remove a duplication cyst on her stomach.
Cora stayed in the N/IICU at Children's Hospital for two months. She defied the odds with her breathing and was able to come off the ventilator, but there were many issues with her feeding and digestion. When Cora was released, she still needed her nasogastric tube in place for feedings. She struggled with reflux and swallowing issues throughout her first year of life, and at age 1, underwent a procedure to have a gastric tube (g-tube) put in place.
But none of that has slowed Cora down.
Defying the odds
Today, she is a beautiful and feisty 3-year-old who has lungs that function as well as a baby born without CDH — lungs she delights in using to express an extensive-for-her-age vocabulary. She still has her g-tube, but according to her mom, is making great progress with weaning from it and is otherwise very healthy.
Many babies with CDH are not as fortunate as Cora, and experience ongoing lung problems caused by their restricted development in the womb. For these children, CHOP has developed a specialized Pulmonary Hypoplasia Program that provides long-term expert follow-up and care.
“We realize how lucky we are,” says Jenni. “Not only that Cora beat the odds in so many ways, but for the world-class care we received at CHOP."
Originally posted: October 2012