Under a sunny sky and surrounded by their families, a few teenage boys threw a football around on a grassy patch in a garden in Cleveland. Such an ordinary scene could happen any day, anywhere in America. But these three boys and their families are a miracle in triplicate.
A worker behind that miracle, N. Scott Adzick, MD, Surgeon-in-Chief and director of the Center for Fetal Diagnosis and Treatment at Children’s Hospital of Philadelphia, was watching that football toss between three of his former patients. It took place during a regional reunion for the Center’s patients and their families. When they meet at CHOP Fetal Family Reunions — the 20th of which was celebrated in 2016 — it is an opportunity to reflect on the many ways remarkable innovations in fetal intervention have changed lives, to thank the Center, and to simply have fun in celebration.
Katherine Mulligan, whose son Sean was one of those boys, was watching Dr. Adzick.
“I could see how touched he was, seeing these three boys that all had spina bifida, and I was just thinking, wow, three months before they were supposed to be born, he helped them and then put them back in to cook some more,” recalled Katherine. “It just brings tears to your eyes, knowing what could have been, and knowing how this man and this team saved all of us from a very different lifestyle.”
If not for Dr. Adzick and the team at CHOP, Sean would have waited until after birth to have surgery to repair his improperly formed spinal column. This procedure for the most severe form of spina bifida, myelomeningocele (MMC), was the standard treatment long before Katherine’s pregnancy in 2000, and continues to be an option for some patients. But much of the damage to the developing spinal cord has already occurred before birth. If he had surgery as a newborn, Sean would still have had a high risk of lifelong neurological disabilities, major motor impairments including potentially the inability to walk, significant bowel and bladder problems, and the need for a shunt tube in the brain to drain excess fluid that accumulates in a complication called hydrocephalus.
Instead, Sean was born, in Katherine’s words, “kicking and screaming,” two months after being one of the earliest of the now nearly 300 spina bifida patients to have fetal surgery for MMC at CHOP. Katherine and her husband traveled from their home in Ohio for the then-experimental surgery soon after receiving Sean’s diagnosis at Katherine’s 20-week ultrasound.
The CHOP team led by Dr. Adzick pioneered this surgery through preclinical research and began performing it in patients in 1998. The idea behind it was that closing the fissure in the spinal column during gestation would reduce the spinal cord’s continued exposure to the ravaging neurotoxic effects of amniotic fluid and potentially prevent some of MMC’s most disabling symptoms. At the time of the Mulligans’ choice, there were anecdotal reports that, among the approximately two dozen babies born after fetal surgery at CHOP, few had hydrocephalus that required a shunt to be surgically implanted in the brain. But the procedure was too new to know more.
“We had no idea what the outcome of the fetal surgery would even be like for a 1-year-old or 2-year-old,” Katherine recalled. “But, we thought, if we don’t have to be playing around in our child’s brain, that alone has to alleviate a lot of issues. We were thrilled that, within weeks, we were watching the hydrocephalus disappear on the MRIs and other scans.”
Birth After Fetal Surgery is Just the Beginning
The joyous moment of welcoming a healthy baby after fetal surgery is one that the Center knows well. These moments, and the journeys parents go through to reach them, were on display in the three-part documentary series called “TWICE BORN: Stories from the Special Delivery Unit,” that aired on PBS in 2015. The series won an Emmy award for Outstanding Science and Technology Programming.
But these happy endings are the beginning of longer stories, too. In the 16 years since Sean’s birth, he and many other early fetal surgery patients have been growing up living outwardly ordinary lives. At the same time, the procedure that offered them that dramatically changed trajectory has grown up in parallel.
“Establishing fetal surgery for spina bifida as a standard of care option was one of the most exciting developments in the history of the treatment for birth defects, and one that our CHOP team has spent years helping to pioneer,” Dr. Adzick said.
Like most children, but unlike many with severe spina bifida, young Sean learned to walk, talk, and run. Before Sean was old enough to begin preschool, CHOP and several other leading fetal centers that were performing fetal surgery for MMC joined forces for an ambitious study. They aimed to compare outcomes between prospectively enrolled patients who were randomized to receive either prenatal surgery or postnatal surgery. They sought to verify whether the early successes they saw in children like Sean indeed reflected benefits of the fetal procedure — not just the rigorous selection process families went through to qualify for it. The trial (Management of Myelomeningocele Study, or MOMS) was partially funded by the Eunice Kennedy Shriver Institute of Child Health and Human Development and co-led by members of the team at CHOP.
Over the eight years the MOMS study was underway, Sean grew steadier on his feet, developed loves of baseball and fishing, and enjoyed the adoration of three little brothers. He began attending school, where other students had no idea he had a disability unless he told them.
In 2011, the results of the MOMS study were published in the New England Journal of Medicine with Dr. Adzick the first author of the publication. This study showed conclusively that fetal surgery improved short-term neurological outcomes compared to surgical repair after birth. It improved young children’s ambulation, and it reduced the need for ventricular shunting in the first year. The findings were clear: Fetal surgery showed enough benefits in the first few years of life to be a standard care option for eligible patients.
Living in a Brighter Future
Sean spent last summer bicycling around town with his friends, capturing Pokèmon. This fall, he got his temporary driver’s license, and he is doing well in school. He needs to give extra attention to certain bladder health concerns related to his spina bifida but is generally healthy and well-adjusted. He knows he had fetal surgery, and he knows his life might have been different without it, but he rarely thinks about that.
Although it is too soon to have full results of the long-term follow-up of the MOMS study in a controlled study population, MOMS2, Sean’s experience seems typical of many of the earliest, pre-MOMS fetal surgery patients. A CHOP research team conducted surveys of 42 families who had fetal MMC surgery at CHOP before 2003 and published their results in February 2016 in the American Journal of Obstetrics and Gynecology. They reported that one-third of the children have normal bowel and bladder function at all times, compared to only 10 percent of children who have postnatal repair of MMC. They found that 79 percent of these children and teens were ambulatory in the community, and another 9 percent were ambulatory at home. And two-thirds of the children participate in sports activities, either special-needs or typical, ranging from baseball to ballet and, of course, touch football.
“It is so rewarding to see patients, who before even being born received grave diagnoses, growing up healthy and strong,” Dr. Adzick said. “It’s important to be open and honest with families and to be clear that while fetal surgery is not a cure for spina bifida, it has the potential to drastically improve the patient’s life. It has been our pleasure to give families hope for their baby’s future, and we look forward to continuing to treat more and more children.”
Read more about Dr. Adzick and the Patient Impact Award he received in honor of his pioneering work.