Craniosynostosis and Cranial Reconstruction Center

Liam and Encephalocele

After trying for seven months, Hannah and her husband, Gabriel, were shocked—but over the moon—to learn they had a baby on the way.

Hannah’s 20-week ultrasound, however, turned the couple’s world upside down.

“The tech was pointing out that our baby was a boy,” Hannah said. “We saw his arm and his hand, and we were thinking everything was normal. Then the doctor walked in with this look in his eyes, and I immediately knew something was wrong.”

Hannah and Gabriel learned the ultrasound showed an encephalocele, a type of neural tube defect, on their baby’s face. A neural tube defect is a severe birth defect of the central nervous system that forms when the neural tube doesn’t close completely. As a result, an encephalocele—a sac-like bulge containing brain tissue and spinal fluid—can form on the front (frontonasal) or back (occipital) of the head.

“I didn’t understand what they were telling us, and then I started crying because I knew whatever they were telling us wasn’t good,” Hannah said. “All I cared about right then was whether my son could survive, and so I asked.”

The doctor told Hannah that he wasn’t sure, but that a maternal-fetal medicine doctor could perform a 3D ultrasound to confirm the encephalocele and guide the couple through the next steps.

Hannah and Gabriel quickly drove to the nearby facility for clearer pictures of their son’s anatomy. Although the 3D ultrasound did show a frontonasal encephalocele, the specialists were much more reassuring about their baby’s chances of survival. 

“They told us our baby could survive, which was such a relief,” Hannah said. “That day was a complete rollercoaster. We went from thinking nothing was wrong with our baby to our baby may not survive to our baby’s going to survive but has a brain defect. I’ve never had more up-and-down emotions than I had that day.”

Learning What to Expect

The maternal-fetal medicine team referred Hannah and Gabriel to the Fetal Care Center at Cincinnati Children’s, which treats women with high-risk pregnancies—providing everything from diagnosis and fetal treatment to delivery and postnatal care.

After more testing, Hannah and Gabriel met with a team of providers who mapped out a care plan for their son. They also met with a Child Life specialist who used a baby doll to show them things they may encounter after their baby was born, like what intubation and a peripherally inserted central catheter (PICC line) would look like.

“We learned how we’d manage the rest of the pregnancy and then what we could expect once our baby arrived,” Hannah said. “We were overwhelmed and nervous, especially because we understood then how rare encephaloceles are, but they were on top of it. We felt very cared for and in good hands.”

Because babies born with an encephalocele are more likely to have other neurological problems as well, such as seizures and genetic conditions, the sheer complexity of the condition can make it life-threatening, said Jesse Skoch, MD, faculty neurosurgeon in the Division of Pediatric Neurosurgery and one of Liam’s doctors. That’s why finding a care team that has experience treating the condition is so important.

Planning for Surgery

Liam arrived by C-section in March 2023. Right away, nurses whisked him to the newborn intensive care unit (NICU), where he spent nearly two weeks. Frontonasal encephaloceles can obstruct babies’ airways and lead to suffocation, so “you need an airway team ready to help these kids as soon as they’re born,” Dr. Skoch said.

Once Liam was stable, Dr. Skoch and Brian Pan, MD, director of the Division of Pediatric Plastic Surgery, began assessments and put together a plan to remove the encephalocele and reconstruct Liam’s face and skull. The two specialists are part of Cincinnati Children’s Craniosynostosis and Cranial Reconstruction Center, which treats kids with skull and facial bone abnormalities.

“There was a fine line of balancing him being a little bit older for his surgery with not waiting too long so it would affect his development,” Hannah said. “They were trying to find that sweet spot and said we’d go home for a few months before the surgery took place.”

Eventually, Liam was released from the NICU, but just a few weeks later, back at home, Hannah noticed a change.

“His encephalocele—or ‘squishy,’ as we called it—was very hard and shiny,” she said.

The next day, Hannah took Liam to see Dr. Skoch. He explained that Liam had developed a fairly severe case of hydrocephalus, which is a neurological condition that develops when cerebrospinal fluid builds up in the brain and causes pressure to increase in the skull. Dr. Skoch placed a tube—called a ventriculoperitoneal shunt—in Liam’s brain to drain the excess fluid.

After a few nights in the hospital, Liam was able to go back home. When he was 4 months old, Drs. Skoch and Pan decided it was time to schedule his encephalocele removal and reconstruction surgery.

Falling in Love All Over Again

The surgery took place in September, right before Liam turned 6 months old. It lasted 11 hours.

“It was a very tearful goodbye that morning,” Hannah said. “I told people we were excited because we knew Liam needed this surgery in order to grow and develop, but at the same time, we were mourning the face we’d fallen in love with.”

Dr. Pan said Hannah’s bittersweet emotions are similar to those of many of his patients’ parents. “You fall in love with the way your child looks when they’re born,” he said, “but then you have another opportunity to fall in love with the way they look all over again. Without a doubt, though, it’s a tough situation for parents.”

The surgery was successful, and Hannah and Gabriel did quickly fall in love with their son’s face all over again. For his part, Dr. Skoch recalls being struck by Liam’s eyes afterward: “There’s so much personality in someone’s eyes, and it was great to see Liam’s shine through.”

After recovering in the hospital, the family went home hopeful that the hardest part of Liam’s journey was behind them.

From September to today, Liam has faced a few roadblocks—including an intestinal rehabilitation surgery and a cerebral palsy diagnosis—but he’s getting the care and services he needs, and Hannah can’t believe how far he’s come.

“He’s just doing so well,” she said. “When I show people a picture of Liam from the morning of his surgery and then they see him today, they’re just blown away that it’s the same baby. It doesn’t even look like the same kid. He still has challenges to overcome, sure, but he’s the strongest person I’ve ever met, and he is so very loved.”

(Published July 2024)