Mary Gundrum, 20 weeks pregnant, was excited when an ultrasound revealed that she was going to have a baby boy. Then she looked closer and said, “What’s that in front of his face?”
“That,” the doctor replied somberly, “is a problem.”
The news was grim. The fetus had an encephalocele, a rare disorder in which part of the brain was exposed, covered in skin, outside the head. In this case, the brain was growing down into the roof of the mouth and protruding onto the face.
If Gundrum decided to continue the pregnancy, she and her husband, Mark, were told, the baby might not make it to birth. Or he might be born, but die a few hours later. Or he might be severely disabled.
Though Gundrum’s pregnancy posed an extraordinary challenge, the painful decision of whether to continue a pregnancy when things go terribly wrong is one many couples face as prenatal tests become so routine and so accurate. For any parent, it is a moment of dread and anguish.
The Gundrums, devout Catholics and the parents of seven other children, decided to continue the uncertain pregnancy. The decision would take them from their home outside Milwaukee to Boston, where a family they had never met opened its doors and hearts to them, and where a top-notch medical team at Boston Children’s Hospital performed groundbreaking surgery to help their baby.
It was a journey that led them from despair to hope, one that would test them and require deep contemplation.
“We did a lot of soul-searching,” said Mary Gundrum, who is 40. “I was thinking, ‘That’s my child. It’s that simple. I’m not going to take the life of my child.’ ”
Still, she was afraid. The Gundrums looked up “encephalocele” online. “The children you see on the Internet . . . I couldn’t find any message of hope,” she said.
Then Dr. John Meara’s name popped up. The plastic surgeon in chief at Boston Children’s Hospital, Meara had removed an encephalocele from a Haitian baby in 2008. The procedure had been videotaped and posted online. “We were just blown away,” said Gundrum.
The couple sent the ultrasound to Meara, who had seen a handful of encephaloceles while completing a fellowship in cranial facial surgery in Australia. “He called me the next day,” Gundrum said in a recent interview at Children’s Hospital. “He said, ‘I want you to know it’s going to be OK.’ ”
But Meara had seen something else on the ultrasound, something he had never seen before.
“I looked at the images, and I thought it was a very rare combination of two diagnoses,” he said. “There was the encephalocele, and there was the Tessier facial cleft, in which the two halves of his head and face never came together.”
Such a condition is, in Meara’s words, “exquisitely rare.” Because prenatal diagnosis today is so accurate, most parents terminate such a pregnancy, he said.
“These days, I’d be surprised if a baby like this is born every 5 or 10 years in North America.”
Dominic Pio Gundrum was born via caesarean section at Froedtert Memorial Hospital in Milwaukee on June 18, 2012, weighing nearly 8 pounds. He had a near-perfect Apgar score, which measures a newborn’s responsiveness, pulse, breathing, and other factors.
But the protruding brain took center stage on the baby’s face. And, as Meara predicted, he had fronto-nasal dysplasia, meaning the two halves of his head and face never fused. The infant’s eyes were far apart, his nose was split in two, as were his lips and palate.
There were other problems. The baby’s optic nerves were underdeveloped, and he was missing his corpus callosum, which connects the left and right cerebral hemispheres of the brain, and allows the transfer of motor, sensory, and cognitive information between them. Nor could doctors locate his pituitary gland, which secretes hormones.
When he was 4 months old, Dominic and his parents flew to Boston for a consultation with Meara and his Children’s Hospital colleague Mark Proctor, a neurosurgeon. A month later, Meara and Proctor and their team would perform a seven-hour operation to remove the encephalocele, close the skull, repair the Tessier cleft, and bring the baby’s facial features together.
The complex surgery would come with concerns over infection, and a loss of blood and bone segments. “I had a lot of sleepless nights,” Meara recalled, “because so many things can go wrong in a case like this.”
There was another concern, this one logistical. Mary and Mark Gundrum, a former state legislator who is now an appellate court judge in Wisconsin, have seven other children, ages 15, 13, 11, 9, 7, 5 and 3. The couple had met at a Catholic conference in Chicago when Mary was 22 and Mark was 24. They married in 1996.
For Dominic’s surgery, they did not want to leave the other children at home, especially around Christmas. But where would a family of 9 — now 10 — stay in the Boston area, possibly for weeks?
The Gundrums homeschool their children through a program called Wisconsin Virtual Academy, and the e-mailed word went out to fellow homeschoolers about the family’s plight.
The Gundrums received more than 20 offers of shelter from the Boston area.
Ultimately, they connected with a couple from a suburb west of Boston, who have four sons ranging from 1 to 9 years old. That family vacated their home in early December and let the Gundrums move in for nearly a month, over the Christmas holidays, while the host family stayed with relatives. The local couple asked not to be identified.
“We really intended to do this quietly,” said the husband. “We got an e-mail and my wife and I thought about it and realized we were in a situation where we could possibly help them.”
Like the Gundrums, the couple are devout Catholics and homeschoolers, saw Dominic’s photos on Mary’s blog (www.dominicpio.com) and were touched by them.
“They arrived the first Sunday of Advent, and among Christians, that’s the time you are preparing for the birth of Jesus,” the man said. “As it turned out, it was so fitting. Dominic and his family were in need, and by making room for them in our hearts, we were making room for Christ.”
He stressed that many others pitched in with food, groceries, transportation, Christmas gifts, and prayers, including St. Bernadette Parish in Northborough and Mary Immaculate of Lourdes in Newton.
“Pretty much every day someone would drop by with a homecooked meal,” he said. “In many cases, people lived more than an hour away. Huge amounts of groceries were delivered.”
Dominic’s cranio-facial surgery at Children’s Hospital began at about 8:30 a.m. on Dec. 4 and finished at about 3:30 p.m., much sooner than the doctors had anticipated. Throughout the day, 10 to 20 people were in the operating room at all times, including medical students; surgery and anesthesia residents; fellows from plastic surgery, neurosurgery and anesthesia; and attending physicians from all of those disciplines. Surgeons from other operating rooms stopped in to observe.
Because such a surgery is so rare, the hospital videotaped it for other doctors to see.
The operation involved removing a piece of the baby’s skull and creating a palate with it to ensure that the brain was in the normal location. “[The bone] became the floor for the brain as well as becoming the roof of the mouth,” said Proctor. “Before, the brain was sagging well down into the mouth.”
Fortunately, the mass that protruded over part of the baby’s face wasn’t brain tissue, but fluid, some of which was released during the procedure. Proctor says in an infant or young child, the brain’s plasticity allows other parts of the organ to take over those functions that don’t work well.
To prepare for the surgery, Meara had a three-dimensional acrylic model made of the baby’s head and face.
“I knew going into the operation exactly where to make the cuts,” he said. He made those cuts around the bones of Dominic’s eyes and upper jaw and moved the two halves of the jaw and the eyes together. He merged the two noses into one, and two sections of the upper lip.
“We took two halves of his face and brought it together into one,” Meara said.
Thrilled with the result, the doctors high-fived one another and hugged the parents. But the challenges didn’t end in the operating room. In the days following, Dominic had seizures, developed fungal meningitis, and suffered respiratory and feeding problems. He remained at the hospital for a month — three weeks in intensive care — before returning to Wisconsin with his mother on Jan. 8. Mark Gundrum had taken the other children home a few days earlier.
The doctors have told the Gundrums that Dominic will walk and talk. “Developmentally, he seems to be appropriate for his age,” Meara said of Dominic, now 7 months old. “I think it’s entirely possible that he will be an entirely normal little guy.”
Though doctors never found the pituitary gland, tests show that Dominic’s hormone levels are normal.
And according to the National Institutes of Health, many children without a corpus callosum have average intelligence and lead normal lives, though they may have some subtle cognitive and social difficulties.
Will Dominic have brain damage? “Everyone I ask says no,” said his mother, who spent nearly every night with her son at the hospital, sleeping on a recliner next to him. “The only thing they don’t know is his eyesight, but he will probably be legally blind.”
Mary Gundrum said she has been overwhelmed by the support, including letters from all over the country. The couple said they are thankful and relieved that insurance covered the medical costs, which climbed into the hundreds of thousands of dollars.
“It was definitely costly,” said Mary. “We’re about to call him our million-dollar baby.”
But she’s most grateful to the team of doctors and nurses who took care of Dominic.
“We’re so glad we were here,” she said from Children’s Hospital before returning home. “I can’t emphasize that enough.”
Still, she said she misses the old Dominic. “As beautiful as his new face is, you mourn the loss of the person you knew.”
Now back at home in Wisconsin, the Gundrums have settled back into their routine.
“Dominic is very happy to be home,” said his father, Mark. “I think in about six months, we’ll be on a great path with him.”
For the first time, the baby is tracking objects with both eyes.
Dr. Meara intends to keep close tabs on Dominic from a distance, with the help of a robot the hospital shipped to the family.
Though Children’s has experimented recently with robots, it is the first time Meara’s department is using one to follow a patient’s progress.
“I can do rounds on the baby every day,” said Meara. “The robot moves, I can take pictures with it. They can see me, I can see them. I plan on following Dominic pretty much forever.”
Meara also hopes to see Dominic in person every year; he may need another surgical procedure as he grows.
But the doctor’s optimistic about the future.
“When he’s 6 feet tall and has a head of hair on him, you may see a little line on his forehead, but that’s probably about it.”