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Johns Hopkins Pediatric

Meeting Exstrophy with Excellence

Bubbly, apple-cheeked Camden Mills, who turned 1 on Oct. 17, 2023, has graced his parents, Molly and David, with all of the delightful baby milestones: his first tooth, his first words, learning to roll over, to sit up and crawl.

L to r: John Gearhart, Heather Di Carlo, Chad Crigger, Isam Nasr

L to r: John Gearhart, Heather Di Carlo, Chad Crigger, Isam Nasr

But the Mills have learned to anticipate an additional set of milestones — signs of progress Cam shares with a community of infants born with a rare (2.2 cases per 100,000 live births) birth defect known as classic bladder exstrophy and who are lucky enough to have up-to-the-minute treatment for it.

Babies with bladder exstrophy are born with their bladder outside of their bodies, and their bladder, pelvis, abdominal wall and genitalia usually imperfectly formed. The condition exists on a spectrum that includes the more severe cloacal exstrophy, which can involve the spine and rectum, and is incredibly challenging to treat. Well into the 1960s, there was no reliable treatment for these babies, and they were unlikely to survive to adulthood. But thanks to pioneering surgeons — and some of the best have done their work at the Johns Hopkins Children’s Center — patients with exstrophy can now lead normal lives. So Cam’s first really big exstrophy milestone was celebrated last April, when the bladder exstrophy center of excellence team at the Children’s Center performed his bladder closure surgery.

Molly Mills, left, with David and baby Cam

Molly Mills, left, with David and baby Cam

Cam was the team’s 1,500th exstrophy patient since they started tracking patients in 1975 [see “Learning from the Data”]. It was an important milestone for the team captained by John P. Gearhart, a world-renowned exstrophy expert who since 1995 has served as the Children’s Center’s director of pediatric urology. Most “high-volume” exstrophy centers treat one or two patients a year. Gearhart’s team performs surgery on 18 to 20 patients and oversees the ongoing care of many more. “Our volume is far and away greater than that of any center in the world,” Gearhart says.

But 1,500 is also an important milestone for Molly and David Mills, because it validates the tireless research they did when they first learned, 19 weeks into Molly’s pregnancy, that Cam was likely to be born with bladder exstrophy.

“I knew almost nothing about bladder exstrophy when we started on this journey,” says David, a pediatric hospitalist in Charleston, South Carolina. “I’d seen only a few cases in my entire career. So when we heard Cam was the 1,500th patient, it just blew our minds. We are incredibly grateful for the depth of Dr. Gearhart’s and his team’s expertise, and to the 1,499 patients who came before us.”

Molly, a registered dietitian who works with South Carolina schools and communities to create healthier environments for kids, says she feels “as if we’ve set Cam up for success by finding him the most expert and experienced medical team possible.”


The Road to ‘Doctor G’

When they learned their baby would likely be born with bladder exstrophy, “our heads were spinning,” David says. “We are obsessive researchers, but it was hard to wrap our heads around.”

A local pediatric urologist gave them a list of exstrophy experts, and one was Gearhart, who responded to their email by immediately inviting them to Baltimore. Like so many parents before them, the Mills found that just meeting “Dr. G,” as he is fondly known by patients and colleagues, allayed many of their fears. Folksy, funny, larger than life, he exudes confidence in his team and their expertise, and immediately puts patients and parents at ease. “He was so clearly comfortable with exstrophy and told us just what to do and what to expect,” David says.

Over the years, Gearhart and his team have perfected a staged intervention. They’ve found that the most important step — which best predicts successful future urinary continence — is that initial closure, which involves rebuilding the bladder and the pelvic bones, and restoring the bladder to its normal home in the abdomen.

Usually that procedure happens when the baby is 1 month to a few months old, but Cam had some polyps on his bladder and a hernia that had to be repaired, so the big surgery was delayed until he was 5 months old.

The Mills left their beloved dog, Mac (Cam spelled backward, David notes), with a sitter and rented an apartment in Baltimore near the Children’s Center. They took turns sleeping so that one of them could always be in the room with Cam, who spent six weeks in the hospital with his legs immobilized while his pelvic bones healed.

Molly, who is a passionate advocate for children’s nutrition, figured out a way, with the help of a lactation specialist, to lean over the crib and feed Cam as soon after the surgery as possible. “Even though I couldn’t pick him up, it was still possible to breastfeed, not only meeting his nutrition needs but also giving him comfort,” she says. “We think he needed less pain medication as a result.”

Cam did so well, in fact, that the exstrophy team is reconsidering its postoperative protocol to potentially reintroduce breast or bottle feeding as soon as it’s feasible.

The Mills can’t say enough good things about the support they felt from everyone they met at the Children’s Center. “The depth of expertise, the care, and the willingness and ability to answer any questions we had was incredible,” David says.


‘Everybody Gets the Mission’

Gearhart says the strength of his team is not only the volume of exstrophy patients they serve. It’s the number of people in every possible role and discipline at the hospital who are committed to the cause. “We have some secret weapons,” he says.

One is Paul Sponseller, the soft-spoken chief of pediatric orthopaedics at the Children’s Center, who invented and has over the years continued to refine the osteotomy widely used to close the gap in the front of the bony pelvis — which is characteristic of exstrophy patients and would, if uncorrected, prevent closing the bladder. He also invented and similarly continues to refine the recovery protocol: six weeks in the hospital and two at home, during which the babies’ legs are kept still using pins and soft restraints to allow the bones to fully heal.

“Dr. Sponny” joined the Johns Hopkins faculty in 1986, two years after Gearhart, drawn by the opportunity to work under the late Robert Jeffs, who has been called “a founding father of North American pediatric urology.” Jeffs invented the staged approach to correcting the spectrum of exstrophy birth defects, an approach considered experimental into the 1990s that is now the standard of care. Jeffs was Gearhart’s predecessor as director of pediatric urology and, in 2010, Gearhart was named the first Robert D. Jeffs Professor of Pediatric Urology.

“Dr. Jeffs was a world leader in this,” Sponseller says. “He had a lot of patients and a great success rate, and I just wanted to be part of that team.”

Sponseller says Gearhart is himself “an incredible leader,” and together, they’ve done “hundreds of exstrophy procedures, over the past 37 years, on patients from all over the world.” They’ve even traveled abroad to perform the surgeries — Morocco, Somalia, Uganda — “wherever the need arises,” he says.

“Dr. Gearhart is a lot of fun, with an infectious enthusiasm,” Sponseller says, “and he has built the exstrophy center of excellence involving everybody — nursing educators, anesthesiologists, pain specialists, orthopaedic surgeons, nephrologists, pediatric plastic surgeons, pediatricians. He has a rare talent for that kind of inclusive leadership. Everybody gets the mission and feels like a welcome and vital part of the team.”

Under Gearhart, the team has created an infrastructure for physicians, patients and families, including a yearly exstrophy picnic with entertaining activities for kids and informative lectures for older patients and their families. There is a Facebook support group. And they run periodic “boot camps” for physicians from around the world who want to learn the procedure. Gearhart and Sponseller have published at least 100 articles, plus chapters in textbooks, about their exstrophy work. Notably, more than half of the team’s patients come to Johns Hopkins to correct surgical work done elsewhere.

In 2014, Heather Di Carlo joined the faculty as assistant professor of urology with an interest in “transitional urology and the adolescent and adult exstrophy patient who grew up with this birth defect,” Gearhart says. “A lot of young adults with bladder exstrophy come to us who have had multiple surgeries in other places and aren’t satisfied with their quality of life. They are the only adults we operate on.”

Gearhart says other vital partners include members of the pediatric anesthesia/pain service, pediatric plastic surgeons who specialize in young people with congenital abnormalities, and pediatric general surgeon Isam Nasr, director of the pediatric trauma program. “So it’s a big and focused team.”

But when Gearhart talks about secret weapons, he is thinking first and foremost of his nursing team. “You can do the best surgery in the world, but if you don’t have great nursing care, you’re sunk,” he says. “We have a very senior group who have nursed our exstrophy patients for the past 20 to 30 years, both our operating theater nurses and Pam Butler’s team out on the floor. Pam is not only an expert in caring for exstrophy patients. She has a son with exstrophy.”


An Exstrophy Nurse Turned Exstrophy Mom

Butler learned about exstrophy working under Jeffs and was already on the team when Gearhart and Sponseller arrived. “You can work in pediatrics and never see a kid with bladder exstrophy. Working for Dr. Jeffs, it was unusual not to have bladder exstrophy patients on our unit,” she says.

One of the many innovations she introduced was having nurses learn to replace babies’ leg restraints, which fall off on occasion. “I’d seen it done a few times and thought it made more sense for us to learn to do it than to have to call one of the surgeons out of the OR every time,” she says.

Butler retired in September after more than four decades at the Children’s Center and says the most significant advance in caring for exstrophy babies has been in pain management. “The biggest gift was to have an anesthesia team that could put an epidural — which completely eradicates pain in the abdomen and hips during that first bit of postop time — in a 2-week-old.”

Butler remembers going to a pediatric nursing conference, “probably in the late 1990s, and one of the speakers was talking about ‘new things’ they could do with epidurals in babies, and I just looked at the nurses next to me and said, ‘We’ve been doing that for 15 years.’”

Postoperatively, patients also benefit from the Pediatric Pain Management Service, founded in 1989 by Myron Yaster, whose team pioneered patient-controlled pain relief, which allows the patient or parent to press a button for a carefully calibrated extra dose of pain medication.

“The pain service changed everything,” Butler says.

Butler’s personal exstrophy journey took a new turn in 1995 when she and her husband adopted one of her exstrophy patients, an 8-year-old Russian orphan named Yuri. “I had to learn to be an exstrophy mom, which is different from being an exstrophy nurse,” she says.

She’d become deeply attached to Yuri, nursing him after a grueling 19-hour surgery in which Gearhart and his team worked not only to correct the birth defect but also to undo the damage inflicted by surgeons in Moscow. “I would say that's really become Dr. Gearhart's specialty,” she says, “fixing what somebody else has broken.”

She still cries, remembering the easy enthusiasm with which her husband and two young sons responded to the idea of expanding their family. After meeting Yuri, “my husband, Fran, just looked at me and said, ‘It’s like he’s always lived here.’”

Today, Yuri Butler lives in Hollywood, an accomplished 36-year-old film editor and graphic designer who graduated in 2015 from the American Film Institute and thinks a lot about the “circle of generosity” that brought him to the present moment.

“My case was really extreme, but even as a child, exstrophy was the least of my worries,” he says today. “Learning English was a big one. By the time I was about 14, I was fully recovered from all of the reconstructive surgeries, and then I was just up and running.”

And his advice to parents like David and Molly Mills is to “normalize exstrophy. Be open about it. Don’t sanitize it. Don’t allow it to be taboo. And humor helps a lot. That’s what my family did for me. It’s like managing diabetes or any chronic condition. Exstrophy doesn’t define me.”


Camden’s Second Surgery

Though they try to focus on the present and enjoy their irrepressibly happy son, David and Molly Mills also think a lot about how they can prepare him for the future.

“We talk about how we can build his confidence so he knows this is just another part of him and no big deal,” says Molly. “I’ve heard from other parents that it does get harder when they’re still in diapers and their peers are not, so we keep reminding ourselves to enjoy this phase, because happiness is his baseline, and he is such a fun baby to be around.”

In September, Cam had his second surgery — to correct his epispadias, a malformation of the penis common in bladder exstrophy babies that includes urine leakage through a hole at the top of the penis, near where it is attached to the torso. When he is a little older, he will have another surgery to give him control over his urine flow, either by rebuilding the bladder neck to potentially allow him to control urine flow through his urethra, if his bladder grows sufficiently, or by augmenting his bladder with intestinal tissue, if necessary, and creating a tiny hole or stoma in his navel through which he will be able to empty his bladder with a catheter. The timing depends on each child’s readiness to participate in learning to manage the special “toilet training” his or her individual case requires.

“After the first surgery, we were celebrating that his urine was coming out of his penis for the first time, not leaking out of an exposed bladder, and we could just change his diaper like every other baby,” David says. “After his epispadias repair, I burst into tears the first time I saw that he was peeing out of the tip of his penis. Those are words that I never thought I would say, but it was symbolic that everything we did to connect him with the team at Johns Hopkins was worth it.”

It’s not been an easy journey, but Molly says “everything so far is exactly as Dr. Gearhart and his team have predicted. Knowing what to expect and being part of the exstrophy community has helped us a lot.”


Hope for the Future

The Mills take comfort, not only in the quality of the exstrophy team’s care but also in their dedication to improving patient outcomes through research. One of their favorite Children’s Center doctors is Chad Crigger, now an assistant professor of urology, who last April was a fellow following Cam’s progress after his closure surgery. “He saw us twice a day, every day of the week, and he’s just an amazing human and communicator,” David says.

In addition to seeing patients, Crigger is working to solve one of exstrophy’s biggest mysteries. Why, after the closure surgery, do nearly one-third of the bladders not keep pace with the child’s growth? Inadequate bladder size is the biggest obstacle to helping kids with exstrophy eventually achieve continence — particularly the ability to “void from below” rather than through a catheter and that stoma in the navel — so it’s a critical issue.

“We have 143 tissue samples of bladder exstrophy muscle in our laboratory, and Dr. Crigger is working with a basic science researcher, doing really neat things, studying the mitochondria of the smooth muscle bladder cells, that could really help our patients,” says Gearhart.

And Gearhart is especially gung-ho about advances in imaging.

“It’s changed everything,” Gearhart says. “Dr. Di Carlo has developed a protocol for MRI-guided surgery that is safer and more precise, because we can see what we’re doing on a computer screen in three dimensions. And with improved prenatal imaging, we can see exactly what is happening long before the baby is born. We gain tremendous knowledge from this, and it’s invaluable for parents. Technology has taken us a long way.”

For more information or patient referral, call the Johns Hopkins Children’s Center at 410-955-6108.

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