During their 20-week ultrasound, moments after learning that their third child was a boy, the Dunns were told their unborn baby had spina bifida, a condition in which part of the spine fails to close properly in utero.
They were referred to a nearby hospital for further evaluation. After a high-resolution ultrasound, the maternal-fetal medicine specialist clarified the diagnosis as myelomeningocele (MMC), the most serious form of spina bifida, in which part of the spinal cord and surrounding nerves protrude through an opening in the back.
The condition was already causing hydrocephalus (excessive fluid pressure in the baby’s brain), and could lead to paralysis, bladder and bowel problems, and club feet after birth. The continued exposure of the spinal cord and nerves to amniotic fluid throughout the pregnancy is thought to result in progressive neurologic damage.
Until recently, a family’s only option for treatment of spina bifida was to wait until after birth to have the spinal defect closed. Babies born with hydrocephalus may also receive a shunt implant, a hollow tube that drains fluid away from the brain. Although shunts perform an important function, they can become infected or occluded, and often need to be replaced multiple times throughout the course of a child’s life.
But the Dunns’ physician had read a report — released just months earlier — about a breakthrough fetal treatment for spina bifida available at the Center for Fetal Diagnosis and Treatment at The Children’s Hospital of Philadelphia (CHOP). The advance is the result of a landmark National Institutes of Health-funded clinical trial, co-led by CHOP, that offers hope of improved outcomes when the spinal defect is surgically repaired before birth.
“She said we had a short window to get up there and have the surgery,” Stephanie recalls. “We were just fortunate that she knew about it.”
Candidate for fetal surgery
The couple was referred to CHOP immediately and flew to Philadelphia for a comprehensive evaluation and counseling to determine if Stephanie was eligible for fetal MMC repair, an extremely complex procedure only offered to qualified candidates.
“The doctors at CHOP went over what would happen if we had the surgery, what would happen if we didn’t do the surgery, what happens if the baby is born preterm, what happens if the baby needs a shunt, what was going to happen to me,” Stephanie says. “Every little thing that could happen they went through in detail five times, helped with questions and emotionally supported us.”
Stephanie qualified for the surgery and returned home to gather belongings for her temporary relocation to Philadelphia and say goodbye to her two other children. Only a week after her initial evaluation, CHOP surgeons successfully closed the opening in her unborn baby’s spine.
Finding support in Philadelphia
For the next two months, Stephanie’s home was the Philadelphia Ronald McDonald House, where she was restricted to modified bed rest. While there, she met four other mothers from across the country who had also undergone the fetal MMC repair procedure.
In talking to them, she realized how lucky she was to have seen a specialist who knew the procedure was available and referred her to CHOP. All of the other women only learned of the fetal treatment after researching the condition online themselves.
“If the specialist we saw hadn’t referred us, I would not have thought to research on my own,” Stephanie explains. “We would have missed out.”
An immediate bond
Little Gary was delivered by planned C-section in CHOP’s Garbose Family Special Delivery Unit (SDU), the world’s first birth facility designed exclusively for pregnancies complicated by birth defects. Thanks to the SDU’s location within CHOP, Stephanie and her son recovered from the delivery just a short walk away from one another.
"The SDU is amazing in that way,” Stephanie says. “They didn’t have to whisk the baby off to another facility like they do at most other places. My husband didn’t have to pick between his wife and his baby. He was able to see both of us in five minutes and have that bonding time.”
Four days later, the couple and their newborn son were on a plane heading home. Little Gary showed no signs of impaired motor skills, and prenatal surgery prevented the hydrocephalus from worsening, so he has not needed a shunt.
“I know I did everything medically possible to give him the best possible future," says Stephanie. "I am so thankful to everyone who made this possible, and I know my son would not be who he is today without them.”
Bringing joy wherever he goes
Five years later, Gary lights up every room he enters. While he walks with assistance from a walker, he doesn’t let anything stand in his way. He enjoys playing sled hockey, swimming, building forts with his family, and spending time with his friends at church. At school, when he’s not practicing his reading and math skills, he loves to joke and leave notes for people to find.
While Gary is loving life as a 5-year-old, his journey hasn’t been without challenges. He will be having his 20th surgery in February. But through it all, Gary’s spirit shines through.
“He is strong and so selfless,” says his mom. “He is a light to all. Whether it’s in the hospital with the staff, or at school pretending to be a mummy, he brings joy.”
The Dunns credit the connections they’ve built with Gary’s specialists and their local spina bifida community for being an uplifting force, in both good times and in bad.
“Here in Orlando we have so much support and our community is so strong,” says Stephanie. “It’s important to show the difficult times and the positive. Whether you’re going through a loss, or hospital stays and surgeries, may you see joy, peace and contentment wherever you are in your journey at this moment.”
Originally published March 2012
Updated December 2016