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'Amazing' face: Baby born with rare birth defect thrives after surgery

Valeka Riegel couldn’t look into her son’s eyes for months after he was born. A rare birth defect left the baby’s face covered by a huge sac.
by A. Pawlowski / / Source: TODAY

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Valeka Riegel couldn’t look into her son’s eyes for months after he was born. A rare birth defect left the baby’s face covered by a sac that extended from his forehead all the way down to his upper lip. All she saw was a little mouth.

Now 1, Zakary is finally free of the protrusion after a marathon surgery.

“I never in a million years thought we would be here a year later,” Riegel, who lives in Oak Harbor, Ohio, told TODAY. She still remembers the moment she saw the little boy’s face for the first time after doctors removed the mass.

“I just cried because I didn’t know he had such beautiful long eyelashes and big brown eyes. They were perfect on both sides.”

Riegel was starting her fifth month of pregnancy when an ultrasound detected what her doctor thought was a cyst on the baby’s cheek. More testing and a fetal MRI revealed a much more serious diagnosis: an encephalocele. The baby’s skull did not close properly as it developed, allowing some of his brain tissue to escape through the gap in the bone between his eyes and collect in a sac.

Zak Riegel was born with an encephalocele, a rare birth defect
A fetal MRI shows the birth defect. What doctors initially thought was a cyst turned out to be an encephalocele.Courtesy Cincinnati Children's

Only one in 12,200 babies born in the U.S. each year have the birth defect, the Centers for Disease Control and Prevention estimates.

“I just sat there and cried,” Riegel, 46, recalled. “I said, ‘I don’t understand: I’m here for a facial cyst.’ I’m thinking a pimple.”

She was referred to the Cincinnati Children’s Hospital Medical Center. The case was so rare that a team of 22 doctors was assigned to treat Riegel and her baby. There were doubts whether he would be born alive, but Zakary surprised everyone when he was delivered via cesarean section in late December 2016.

Zak Riegel was born with an encephalocele, a rare birth defect
Zak's face was covered by a mass that extended from his forehead all the way down to his upper lip.Courtesy Valeka Riegel

Doctors in the NICU told Riegel the baby was healthy. But the sac covering his face was so heavy that it was collapsing his nasal cavities. A little sling was devised to lift it off his nose and mouth until he was old enough for the surgery to repair the defect. He could breathe on his own and suck a bottle.

Still, Riegel was in shock when she first saw her son: “Only a large protrusion and tiny little lips — no eyes, no nose, no eyelashes,” she wrote in the hospital blog. How is he going to breathe, she wondered.

Zakary spent more than four months in the NICU. In April 2017, he was big enough to handle the nine-hour surgery, which required a craniotomy, removal of the mass, repair of the gap and reconstruction of his face.

Zak Riegel was born with an encephalocele, a rare birth defect
A device lifted the mass off Zak's nose and mouth until he was old enough for the surgery to repair the defect. He had to wear it 24/7.Courtesy Valeka Riegel

“He had a defect in the sac around the brain and a defect in the bone,” said Dr. Charles Stevenson, Zak's pediatric neurosurgeon at Cincinnati Children’s. “We had to reconstruct that as it was meant to be.”

“The rarity of these conditions just made it a very interesting patient to work with,” said Dr. Brian Pan, pediatric plastic surgeon at Cincinnati Children’s, who worked on the baby’s face.

The extra tissue was tested to see if it was cancerous, but the results were benign. The baby was released from the hospital a week later. Riegel found his face “amazing” — it was the first time she could look into both of his eyes — but both she and Zakary had to adjust to it a bit.

Zak Riegel was born with an encephalocele, a rare birth defect
Zak after his surgery.Courtesy Valeka Riegel

“I had come to fall in love with this little boy with this big ball on his face,” she said. “He always played with it… the first couple of days, he kept swatting at his face, like ‘Wait a second, I’m not seeing it; I’m not feeling it.’”

The scars have healed and the baby is doing very well, Riegel said. He’s about three months behind developmentally, but doctors told her he likely won’t need any further neurological intervention. Extra skin on Zak’s face will be removed during a future outpatient surgery. His prognosis looks “very great,” his mom said.

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