It was Valentine’s Day last year when David and Molly Mills learned, with great delight, that she was pregnant.
“It was the best Valentine’s gift,” says Molly, who met David at the Medical University of South Carolina in Charleston, where she was a pediatric dietitian and he is a pediatric hospitalist and director of the pediatrics residency program. “We both love children and we really wanted to start a family.”
Molly and David were a little anxious because they’d already gone through a miscarriage, but nothing could have prepared them for the results of the routine 19-week ultrasound. While scanning the baby’s anatomy, her maternal fetal team became alarmed when it couldn’t detect a bladder. That was the day Molly and David were told their baby would likely be born with classic bladder exstrophy (BE), a rare (2.2 cases per 100,000 live births) and serious birth defect.
In people with bladder exstrophy, the bladder tends to be imperfectly formed and outside of a defective abdominal wall. Also, the pelvis is generally not fully developed. There’s an unusually wide separation of the pubic bones too, and there are no sphincter muscles to control urine flow. Bladder exstrophy is often accompanied by epispadias, in which the urethra (and the penis for boys, the vagina for girls) is not fully formed, so urine leaks out.
The day David and Molly Mills learned about the bladder exstrophy, the couple also learned that the one local pediatric urologist comfortable with treating the condition had just announced his resignation.
“Our heads were spinning,” says David. “I’d seen one case in my entire career and knew very little about it.”
But that local urologist’s resignation was a blessing in disguise, because it’s how Molly and David found out about John Gearhart, a world-renowned exstrophy expert who since 1995 has served as director of pediatric urology at Johns Hopkins Children’s Center. He captains a team that has made the Children’s Center a center of excellence for treatment of the entire exstrophy spectrum, including the more severe cloacal exstrophy, which can involve the spine and rectum.
And that’s how Camden Mills — a bubbly, apple-cheeked little fellow who was born in Charleston on Oct. 17 — became the 1,500th patient with exstrophy to be treated by Gearhart’s team since it started tracking patients, and collecting data for future researchers, in 1975.
“It’s a very reassuring number,” says David.
Performing one or two exstrophy closures (restructuring the pelvis, repairing the abdomen and placing the bladder inside where it belongs) per year at a children’s hospital is considered high volume. Gearhart and his team do 18 to 20 annually. And they treat many patients who have had failed closures elsewhere or who just want the Johns Hopkins team to follow them throughout their lives. Such follow-up can include preserving kidney function, achieving better urinary continence, improving the appearance of external genitalia, boosting fertility and generally doing anything possible to improve patients’ quality of life.
“The significance of 1,500 exstrophy patients treated is tremendous because it’s a volume far and away greater than any center in the world,” Gearhart says. “We always have two or three cases in the hospital at any one time. And we have some secret weapons, including an incredible pain management team, and a team of nurses who have cared for these patients for the past 20 or 30 years, so the pre- and postoperative care is extraordinary.”
Preparing for Any Possible Game Plan
In the summer of last year, when Molly was 20 weeks into her pregnancy, the Millses were full of questions when they flew to Baltimore to meet Gearhart and his team.
“We’re both data people, so we wanted to know everything,” David says. “We even did genetic testing. Was there some underlying condition we could address? Would Molly have to give birth in Baltimore? We were trying to prepare for any possible game plan.”
Meeting Gearhart, a charismatic and kindly physician known fondly to many of his patients and colleagues as Dr. G, changed everything for the anxious couple. “He was so confident and matter of fact and obviously knowledgeable, it just built our confidence,” Molly says.
David adds, “I remember holding my breath as I asked if Molly would have to give birth in Baltimore, and he was like, ‘No way! I’m sure you have a good neonatology team down there.’”
Gearhart told them what to expect — an immediate exstrophy closure about a month after birth, followed a few months later by a less complex surgery to repair their baby’s penis. These surgeries would be followed by a procedure or series of procedures down the line that would help Camden achieve urinary continence and, eventually, a satisfying sex life.
Usually, the Johns Hopkins team likes to do the crucial closure procedure when the baby is 4 weeks old, but Camden had a hernia and some polyps on his bladder that clinicians wanted to repair first. So, the family made one quick trip to Baltimore for that fix in November of 2022. Then, in April of this year, after Molly and David arranged to do their jobs remotely and rented an apartment in Baltimore, they and Camden spent six weeks at Johns Hopkins Children’s Center.
The bladder exstrophy closure took eight hours, and afterward, Camden had to be immobilized from the waist down for six weeks to allow his pelvic bones to fully heal. Though the normal feeding protocol during recovery is through a tube, Molly — who has made a career, and a mission, of improving childhood nutrition — was determined to start breast-feeding again as soon as possible. With the help of a Johns Hopkins lactation specialist, she figured out a way to get up on a stool and bend over the bed to feed Camden. To her relief, he took to it immediately and with great enthusiasm.
“There is a lot of pain involved in that surgery, and sedation needs thereafter, and for six weeks, we couldn’t hold him, so it was one way I could offer him comfort,” Molly says. “We actually think he needed less pain medication as a result.”
Camden did so well that the Johns Hopkins exstrophy team is thinking about revising its feeding protocol, says Chad Crigger, a urology fellow on Gearhart’s team during the surgery and now an assistant professor of urology.
Advantages of the Center for Excellence
David and Molly Mills recommend that all parents facing this diagnosis find a center of excellence like the one at Johns Hopkins Children’s Center, not just because of the expertise of the surgeons — some of whom, like Paul Sponseller, chief of pediatric orthopaedics at Johns Hopkins, invented procedures and protocols now in widespread use for these babies — but because of the depth of expertise of the rest of the team.
"Dr. Crigger is one of the people who made a huge impact on us,” David says. “He saw us twice a day, every day of the week, and he’s just an amazing human and communicator.”
“Another person we wanted to thank especially is Addie Garcia [pediatric urology nurse practitioner], who helped set us up for success from the beginning,” Molly says. “David and I like feeling well prepared, and she sent us patient guides and even a list of what to pack for our visit. She was always available to answer our questions. Everyone we saw the whole time we were there was incredibly knowledgeable and communicative and comforting.”
The other advantage of an exstrophy center of excellence, says Molly, is the access it affords to other parents whose children have exstrophy as well as to older patients with exstrophy. Molly and David could compare notes with parents at the hospital, and there is a Facebook group that they — and even members of the medical team — find helpful.
“Patients are always asking me about sports or swimming, and I often go to the Facebook group because our veteran families often have great advice,” Crigger says.
Crigger adds that there is also an annual picnic. “Families meet other families whose children have exstrophy, and you see 200 to 300 kids just running around, climbing trees, being normal kids,” he says. While the children are engaged in fun activities with child life staffers, the exstrophy team offers lectures and discussions, including research updates, for parents and families. Some of the questions are poignant, Crigger says.
“We had one last year from a woman who wondered what we knew about exstrophy and menopause,” he says. “Hopefully, we will one day be able to answer such questions by mining that great — and growing — database of 1,500 patients that encompasses a nearly 50-year history.”
This year’s picnic is on June 17. Because Camden is still recovering from surgery — learning to kick again, and requiring some extra tender loving care — Molly says they won’t be going.
“But we are really looking forward to next year, and the years to come,” she says.
“It’s a privilege to be part of this community, and we want to pay it forward,” says David. “This is just our first step on Camden’s journey, and we are incredibly grateful to all of the researchers and doctors and nurses, as well as those 1,499 patients and their families who came before us and helped pave the way.”