Before AJ was born, he was diagnosed with severe congenital diaphragmatic hernia — and the outlook wasn’t good. But a fetal surgery procedure offered at Children’s Hospital of Philadelphia allowed his lungs to grow before birth, giving him the chance to survive and thrive. Now 6 years old, he’s doing just that.

When Erin was 13 weeks pregnant, she and her husband, AJ, went in for an ultrasound and received frightening news. Their obstetrician at Lankenau Hospital, located just outside of Philadelphia, discovered that their unborn son (whose name is Albert John and is called AJ, like his dad, grandpop and great grandpop) had congenital diaphragmatic hernia (CDH).

CDH occurs when the muscle that separates the chest from the abdomen fails to close during prenatal development, and the contents from the abdomen (stomach, intestines, spleen and/or liver) migrate up into the chest.

When the abdominal organs are in the chest, there is limited room for the lungs to grow. This prevents the lungs from developing normally, which causes serious, life-threatening complications. Erin and AJ were advised to go to Children’s Hospital of Philadelphia (CHOP), not far from their home in Media, Pa.

“It was very stressful and scary,” remembers Erin. “They said, ‘Go to CHOP, they see the most of this out of anyone.’”

A new treatment option for CDH

After an evaluation with fetal imaging specialists from CHOP’s Richard D. Wood Jr. Center for Fetal Diagnosis and Treatment, the diagnosis of CDH was confirmed and a plan of care was established. Baby AJ’s case was severe. His liver, spleen, intestines and stomach were pushed up into his chest, taking up space his lungs needed to grow. When his parents sat down with the team to go over the test results, they learned that AJ could potentially be a candidate for prenatal intervention.

For babies with severe cases of CDH, treatment before birth may allow the lungs to grow enough before delivery so these children can survive and thrive. For certain severe cases, CHOP offers fetoscopic endoluminal tracheal occlusion (FETO) as a treatment option that may improve outcomes in CDH babies.

After additional testing, it was confirmed that Erin and baby AJ qualified to undergo FETO surgery. AJ and Erin sat down to consider their options.

“They gave us more than enough credible research and information to make a very educated decision,” says AJ.

“We chose to do FETO because of the chances of survival,” adds Erin. “If we didn’t do anything, there was a chance we may never see him breathe. That made our decision. Every step of the way, we would weigh the risks and benefits and make sure we felt comfortable with the decision and wouldn’t have any regrets in case it didn’t have the optimal outcome.”

Fetal surgery for CDH

When Erin was 27 weeks pregnant, she went in for the first FETO surgery, a minimally invasive procedure to place a tiny balloon into baby AJ’s airway. Erin was sedated while a maternal-fetal medicine specialist made a small incision in her abdomen and passed a trocar (a hollow tube) into the womb.

Holly Hedrick, MD, a Pediatric and Fetal Surgeon, then passed a fetal bronchoscope into baby AJ’s airway, where she inflated a small balloon. The balloon blocks the airway and remains in place for a few weeks, allowing fluid to build and the lungs to grow.

Afterward, Erin showed signs of possible membrane separation, so the team kept her overnight and did another ultrasound. The next morning everything looked good, so she was sent home on bed rest.

The couple returned every week for follow-up monitoring of both mother and baby. The second procedure, to remove the balloon, was planned for several weeks later, leaving time for the lungs to mature before delivery.

At around 30 weeks gestation, Erin began having mild contractions. Because baby AJ’s airway was still blocked by the balloon, an unexpected delivery could be life-threatening. The team gave Erin medications to stop the contractions and admitted her to the Garbose Family Special Delivery Unit (SDU) so they could keep close watch on both Erin and AJ until the balloon was removed.

The contractions caused Erin’s membranes to rupture, and she began leaking fluid a week before the planned removal of the balloon. The membranes blocked AJ’s face for another fetoscopy and, despite attempts to clear the airway, the team decided the safest option was to perform an ex utero intrapartum treatment (EXIT) procedure to remove the balloon that could block AJ from breathing when he was born.

Every detail matters for delivery of a CDH baby

The EXIT procedure maintains maternal placental circulation during delivery. This gave the team time to remove the balloon, make sure the airway was clear, and place a breathing tube in the airway while baby AJ continued to receive oxygen and nutrients from Erin. The EXIT procedure, developed at CHOP, is used for tracheal occlusion and other conditions that compress or block the airway to ensure a safe delivery.

Babies born with CDH need immediate stabilization and breathing assistance. Because their health can change unexpectedly, every detail matters. In the SDU, AJ had immediate access to CHOP’s unique Neonatal Surgical Team. Once stabilized, baby AJ was brought to the Harriet and Ronald Lassin Newborn/Infant Intensive Care Unit (N/IICU), where neonatologists could keep a close eye on him.

That day, AJ’s dad was able to split his time between the N/IICU with his son and the SDU with his wife.

“There were a lot of ups and downs emotionally,” says Erin. “But as stressful as it was, the care team kept us calm and was very reassuring with everything. Everything was pretty much what they had prepared us for.”

When AJ was 2 weeks old, he had surgery to guide the organs in his chest back down into his abdomen and repair the hole in his diaphragm. Not long after that, his parents were finally able to hold him. The breathing tube was removed, and he started feeding through a tube that traveled through his nose into his small intestine (NG tube).

After the surgery, AJ developed a small hiatal hernia. He also experienced severe gastroesophageal reflux. He underwent a fundoplication and gastrostomy tube surgery to ease the severe reflux he was experiencing, which can damage the lungs.

Continued support

AJ has had ongoing follow-up care through the Pulmonary Hypoplasia Program (PHP). The PHP provides multidisciplinary care for children with conditions like CDH that limit lung growth, focusing on optimizing medical and neurodevelopmental outcomes and monitoring for any issues that arise as they grow.

He had the G-tube removed when he was 16 months old. When he was 5 years old, a routine follow-up scan identified a re-herniation in his diaphragm, and he had to return to CHOP for another surgery.

“We again experienced excellent medical care and compassion at CHOP as AJ tackled this hurdle,” says Erin. “AJ’s surgery went very well and he couldn’t wait to get back in the pool as soon as he was given the OK.”

Today, little AJ is 6 years old and thriving in kindergarten. He is a fun-loving kid who is full of life. He loves playing with friends, finding new playgrounds, drawing and trying a range of sports.

The only medical issues he deals with currently are reactive airway disease and constipation. His parents count themselves as lucky.

“It’s so reassuring to hear the team say he’s surprising them with milestones,” says dad. “And that’s why we call him ‘our little Superman,’ just flying through everything.”

“We thank God every day for Dr. Hedrick and her team at CHOP,” adds Erin. “They are our angels. Not only did they save our son, CHOP and the FETO procedure have given our son such quality of life. He is such a happy, outgoing kid who is keeping up with all his classmates.”