STORY BYAt a time when most expectant mothers would be making plans for a baby shower, Elizabeth Ruguleiski was planning a funeral for her unborn child.
Three months into her pregnancy, doctors told her the baby had a rare neural tube defect called an encephalocele. About 20 percent of the baby girl's brain and the membranes surrounding the brain were protruding through a hole at the top her skull.
The birth defect, in all likelihood, would result in a stillbirth, doctors said. If she lived, it would only be for a few hours, and if she survived beyond that, she would have severe mental deficiencies.
Because the condition is so uncommon, doctors had few sources on which to base the prognosis. “We have a lot more to learn about this birth defect,” says Kim Waller, Ph.D., associate professor of epidemiology at The University of Texas School of Public Health at Houston. Technically encephalocele is considered a neural tube defect, but there is some discussion about whether that is indeed the case.
“We don't know whether folic acid protects against the occurrence of encephalocele,” Waller says, who studies birth defects but was not involved in Abigail's case. “Chromosomal abnormalities occur in some babies who have an encephalocele, but we don't know why they occur in some cases but not others.”
“Every single doctor we saw in the first year of Abigail's life told me to take her home to die. You can't give up.”
Encephalocele occurs in fewer than two of every 10,000 live births.
Ruguleiski and her husband prayed that their first child would be one of those live births, and on Sept. 22, 2003, they were blessed with Abigail.
True to her personality today, Abigail was stubborn and determined in the hours and days that followed her delivery.
Her exposed brain made her vulnerable to infections, but she doggedly fought for her life. Meanwhile, her parents diligently changed the dressings every day in an effort to protect her.
Treatment options were bleak. The majority of children born with the birth defect have a small amount of exposed brain in the front or back of the head. In most cases, surgeons can remove the newborn's protruding brain matter and close the skull deformity.
Abigail's encephalocele was the rarest of the rare. It wasn't small. It wasn't at the front or back of her head. Almost a quarter of her brain was jutting out the top of her skull like a ponytail.
“It didn't seem like surgery was an option,” Ruguleiski says. “We took her home and thought we should just spend as much time with her as we could.”
Twice, Abigail contracted meningitis. After the second bout, the Ruguleiskis sought a second opinion and learned that their daughter may have a chance at a more normal life.
Dr. James Baumgartner, assistant professor in the Division of Pediatric Surgery at UT Medical School at Houston, believed surgery was Abigail's only option for long-term survival.
“If we did nothing, her chances of dying from meningitis were high,” he said. “Abigail would continue to get meningitis, and if it didn't kill her, it would be detrimental to her development.”
Baumgartner first evaluated the anatomy of the brain to make sure the venous drainage system was within safe distance of the eruption on the top of her head.
Once he determined that he could amputate the exposed brain without destroying other vital structures, the parents consulted with their pastor and then scheduled the surgery.
During the two and a half-hour operation, Baumgartner cut away the malformed, fibrous portion of Abigail's brain.
“In all likelihood, the portion of brain outside her skull wasn't serving any good purpose,” he says. “It was horribly disorganized. It was firm, and there was no normally structured gray or white matter.”
The surgery carried the risk of mental impairments. “The doctor told me that when she woke up from surgery, she'd pretty much be the way she was going to be. She would either be able to do all the stuff she could do before the surgery, or she wouldn't,” Abigail's mother said. “She woke up and took her oxygen mask off right away. I thought, `Yep, that's my baby.”
Only a week after surgery at Memorial Hermann Children's Hospital, Abigail was chatting with her dad, smiling at her mom and sitting up by herself. There is still a hole in her skull, but tissue covers it, and over time, Baumgartner says, it should close on its own like her soft spot. If not, he'll repair it before Abigail begins kindergarten.
Baumgartner recommends the parents consider having their baby's encephalocele repaired soon after the birth. “Don't wait. The longer you wait, the greater the chance of the baby getting meningitis,” Baumgartner advises. “The goal is to protect against meningitis and cover the brain with normal tissue, which is the way it was meant to be.”
Ruguleiski encourages parents to be aggressive with their child's medical care. “Learn all you can,” she says. “Every single doctor we saw in the first year of Abigail's life told me to take her home to die. You can't give up. Every day with her is special. We don't take it for granted.”
UPDATED: 1-06-2005
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Dr. Kim Waller is an associate professor of epidemiology at UT School of Public Health.
See Dr. Waller also at:
Dr. James Baumgartner is an assistant professor in the Division of Pediatric Surgery at UT Medical School.
See Dr. Baumgartner also at:
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