A Steady Guide Through Exstrophy

Gift funds new practitioner to support patients and families at every step of their journey

James Burke recalls the day his daughter Alice was born. “We were so pleased,” Burke says. “Then I looked up and saw the nurse’s face and went, ‘Oh my God, something is wrong.’”

A fleshy mass protruded from Alice’s belly. Doctors rushed in. “All of a sudden you’re in a surreal nightmare,” Burke says.

Alice was diagnosed with bladder exstrophy, a rare congenital condition where the bladder develops outside the body. She required major surgery, and would need to be catheterized and placed in a body cast while she healed. “It’s the confusion in the beginning,” Burke’s wife Pernilla adds. “Catheters? What do you mean?”

Bladder exstrophy occurs in only one out of every 50,000 births. It can be detected prenatally, but in many cases, it isn’t discovered until birth. For many families, like the Burkes, the diagnosis comes as a complete surprise — introducing them to a condition they didn’t know existed.

Children with bladder exstrophy require lifelong, specialized care. About three-quarters of patients at Johns Hopkins achieve continence, but getting there requires additional surgery. Some children need further surgery to preserve kidney function or to restore sexual function.

The Burkes found their way to Johns Hopkins, where they were heartened to find a team dedicated to bladder exstrophy. “Alice needed a community of people,” Pernilla says. After 12 years at Johns Hopkins, the Burkes say the team feels like family.

James is president of the Burke Foundation, which recently made a generous gift to fund a dedicated position for a bladder exstrophy advanced practice provider at Johns Hopkins. The position was created to provide consistent support to patients and families at every step of their journey.

“It made all the sense in the world,” James says about the decision to fund the position. Rare conditions like bladder exstrophy receive very little funding, but the need is great, James says. “That’s where philanthropy can make a huge difference.”

Heather Di Carlo, interim director of pediatric urology and the Spiegel/Nichols Associate Professor in Pediatric Urology at Johns Hopkins, says the Burkes’ gift is transformational. “It enables us to offer a level of continuity and personalized support that was previously beyond our reach,” she says.

The Division of Pediatric Urology hired physician assistant Madilynn Perrigo for the role. As a PA student, she had completed a rotation with the bladder exstrophy team. However, she first came to Johns Hopkins as an exstrophy patient.

“Growing up, I didn’t know anyone with exstrophy,” Perrigo says. “Families can’t picture that you can have this and have a normal life.”

Perrigo is the point of contact for all exstrophy patients and families — coordinating appointments, managing prescriptions, consulting on care plans, and answering questions big and small. Her work enables physicians to focus more on surgery and research, while giving families a steady, informed guide.

“It’s knowing that families can walk through this process feeling more confident, that there’s somebody there to hear your fears and problems,” Pernilla says. “I would have wanted that for our first 10 years with Alice.”

Perrigo recently underwent continence surgery and is open with families about her experience. “I know all the tips and tricks to make things as comfortable as possible,” Perrigo says. “I have a Lululemon belt bag when I go out. No one knows it’s for my catheter supplies.”

Alice, now 14 years old, recently returned to Johns Hopkins for her continence procedure. She faced major surgery and a long recovery. Having Perrigo by her side made all the difference. “Madi has been a role model,” she says. “Being able to spend time with a successful woman like her, who has what I have, has been inspiring.”

This story first appeared in the Fall 2025 issue of Hopkins Medicine magazine.