Jenni Pappas stared at the perinatologist, a specialist in maternal-fetal health, anxiously watching him perform her ultrasound. She was 22 weeks pregnant, and the mass on her baby’s chest was so large, it had pushed the heart out of place. When doctors explained what it was, Pappas was too stunned to speak. It was the baby’s liver. At the time, all she could manage to ask was, “is my baby not going to make it?”
Pappas’ unborn baby girl was diagnosed with congenital diaphragmatic hernia (CDH). Before that day, Pappas 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. National CDH Awareness Day on March 31 aims to change that.
The cause of CDH is unknown, and 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.
“I knew I could have a stillbirth, I knew she might not survive right after birth,” says Pappas. “Things were very uncertain.”
As the Pappas’s came to terms with the diagnosis, their perinatologist in Memphis, Tenn., suggested they contact the specialists at The Center for Fetal Diagnosis and Treatment at The Children’s Hospital of Philadelphia (CHOP). The Pappas family immediately flew to Philadelphia for an evaluation.
Pappas underwent a series of tests, including a level II ultrasound, a fetal MRI and fetal echocardiogram. A comprehensive team, including pediatric surgeon Dr. Holly Hedrick, who specializes in treating babies with CDH, helped them understand their tests and explained the important next steps.
“They did a fantastic job of explaining CDH. They told me she wasn’t the worst or the best,” says Pappas. “But I left knowing she had a ‘chance for survival.’ They were clear that her case did look severe. I actually appreciated that they didn’t put a percentage on her prognosis. They couldn’t know until after she was born, but I needed to know was that she had a chance.”
Children’s Hospital is one of only a few U.S. hospitals offering such comprehensive care for a mother and her fetus before birth. During their initial visit, the Pappas’s met with a team of fetal surgeons, obstetricians, neonatologists and advance practice nurses to map out a plan for the pregnancy and the baby’s birth.
When Pappas was 31 weeks pregnant, she, her husband and young daughter relocated to the Ronald McDonald House in Philadelphia. “There was no question that I would have the baby and the procedure at CHOP,” says Pappas.
On Oct. 29, 2009, Pappas gave birth to her daughter, Cora, in CHOP’s Special Delivery Unit – the world’s very first birth facility designed exclusively for mothers carrying babies with known defects. Pappas was able to have a natural delivery with the support of CHOP’s midwifery team. Immediately after her birth, Hedrick and her team worked to stabilize Cora. CDH babies require prompt intubation 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.” CDH babies are extremely delicate and their condition can change quickly and unexpectedly.
Cora stayed in the neonatal intensive care unit at Children’s Hospital for two months. She defied the odds with her breathing and came off the ventilators well, but there were many issues with her feeding and digestion. When Cora was released, she still needed her nasogastric tube in place for feedings. Cora struggled with reflux and swallowing issues throughout her first year of life, and when Cora was a year old, she underwent the procedure for a gastric tube.
Today, Cora is a beautiful and feisty toddler who, in addition to having an extensive vocabulary for her age, has lungs that function as well as a baby born without CDH.
“That blew my mind,” says Pappas. “We have no regrets. We couldn’t be happier about the outcome.”