Special Delivery: Future is Bright for One Baby with Birth Defect

When Heather and William Carroll married eight years ago, they knew they wanted children. Ms. Carroll had a 9-year-old daughter, Kassandra, and the couple was eager to add more children to the family. After seven years of disappointment, in 2012 they finally got the news they had been awaiting — Ms. Carroll was pregnant.

Their joy was tempered after an ultrasound during a prenatal checkup revealed myelomeningocele, a form of spina bifida. An amniocentesis confirmed the diagnosis.

Spina Bifida
In babies with spina bifida, the bones of the spine fail to completely develop and close before birth. Spina bifida affects coordination and is often accompanied by hydrocephalus, or water on the brain.

If the exposed spine is not reconstructed and closed properly, the baby can develop a serious infection, increasing the risk and severity of symptoms.

Ms. Carroll was familiar with spina bifida. Before she was born, her mother had had a baby boy who died as a result of the birth defect. That made the diagnosis all the harder to hear.

“At first it was devastating and it was scary, because I knew what my mother went through,” she said. “I knew what the ultimate worst could have been.”

After their initial shock, the Carrolls began an odyssey to find the best treatment for both the baby and Ms. Carroll — a journey that led them halfway across the country. They were not sure if the care they needed could be found close to home. They went to Nashville to consult with a team of specialists before opting for both delivery and surgery in Miami.

Ms. Carroll, who was born at Baptist Hospital and gave birth to her first child there, scheduled her delivery at Baptist. When she went into labor three weeks early, her obstetrician was not available. Baptist Hospital obstetrician Enrique Vazquez-Vera, M.D., was on call and stepped in.

Risky C-Section
“It was a risky surgery to perform a C-section on a baby already known to have a complication,” Ms. Carroll said.

With a successful delivery, the Carrolls welcomed Charlotte, nicknamed “Charlie.” The family was then introduced to Vitaly Siomin, M.D., medical director of the Brain Tumor Program at Baptist Health Neuroscience Center and one of only a handful of pediatric neurosurgeons in South Florida.

To prevent infection, Dr. Siomin said, babies with spina bifida must undergo surgery 24 to 36 hours after birth. The (exposed spine) area must be reconstructed layer by layer, which can be a painstaking process.

“This procedure integrates neurosurgery with elements of plastic surgery,” Dr. Siomin said. “The tissues are very delicate and some tissues are missing, so you have to be creative to bring the skin and fascia [connecting tissue] together. You want to avoid too much stretching or pressure so that the tissues heal very well.”

While cases of spina bifida are more unusual in the United States — the Centers for Disease Control and Prevention estimates 1,500 babies are born yearly with the condition — surgeons perform such reconstructions weekly in Tel Aviv, where Dr. Siomin completed a fellowship.

After her surgery, Charlie spent three weeks at Baptist Children’s Hospital in the George Batchelor and Gloria Vasta Lewis Neonatal Intensive Care Unit.

Energetic and Adorable
Today, she is an energetic, adorable 20-month-old with an impressive vocabulary. She never suffered an infection and has not experienced water on the brain. Ms. Carroll is hopeful that with weekly physical therapy, Charlie will learn to walk. “She seems the type of child who’s not going to let anybody tell her that she can’t do it,” she said.

While surgery does not cure spina bifida, it can prevent the debilitating cognitive and neurological problems caused by infections and lessen the likelihood of water on the brain. “A lot of the kids become very functional cognitively, and most of them do quite well,” Dr. Siomin said.

Charlie continues to progress with the help of therapists at South Miami Hospital’s Child Development Center. Dr. Siomin sees her for checkups every six months. “So far, so good,” he said. “She’s been very stable.”

What happened between the day Charlie’s spina bifida was discovered and the family’s life today, Ms. Carroll said, is a story almost as amazing as her daughter, who continues to beat the odds.

“We were trying for a very long time for this baby,” she said. “When we got to the point where we thought it wasn’t going to happen, it happened. She’s our little miracle.”

Tags: neurosurgery, spina bifida