Looking at the whole child: Coordinated care for spina bifida helps Jeffrey thrive

8-year-old boy with spina bifida smiles at the camera

Jeffrey Marotz and his family may have driven to Boston Children’s Hospital from their home in New York, but it was really the boy’s feet that brought him here.

Born with severe spina bifida, a complex birth defect that affects the development of a child’s spinal cord, spine and brain, Jeffrey had also been diagnosed with clubfoot, a related orthopedic condition that causes the foot to twist unnaturally.

Previous surgeries hadn’t worked and the braces that had been custom made for then three-year-old Jeffrey didn’t fit correctly. “Nothing was working,” says his mom, Michelle.

A team approach to spina bifida

Frustrated, Michelle and husband Matt decided to get a second opinion from the Spina Bifida and Spinal Cord Conditions Center at Boston Children’s. Because spina bifida can affect multiple systems, Jeffrey was seen by a neurosurgeon, orthopedist, urologist and complex care pediatrician — all choreographed by Rebecca Sherlock, the center’s nurse practitioner.

“I thought we were just coming to the clinic to see an orthopedist,” Michelle says. “It didn’t occur to me that the center was a whole team of doctors who really knew spina bifida, and that those specialties would be working together. Coming here was the best decision we ever made for our son.”

Jeffrey, who has spina bifida, with his parents and Rebecca Sherlock
Jeffrey and his parents with Rebecca Sherlock

An unexpected detour

It was during one of those first meetings that Michelle and husband Matt learned that Jeffrey required more extensive treatment than previously believed. When they described the mysterious episodes in which Jeffrey would arch his back and stop breathing, neurosurgeon Dr. Benjamin Warf suggested there might be a problem with his shunt, a device that helps drain excess fluid in the brain. After Warf confirmed that indeed the shunt was blocked, Jeffrey underwent shunt revision surgery, which relieved him of his symptoms.

But a year and a half year later, Jeffrey again exhibited symptoms suggestive of a shunt malfunction. This time, Warf opted to remove the shunt and perform an endoscopic third ventriculostomy (ETV), a minimally-invasive procedure that creates a tiny opening in the brain allowing trapped fluid to escape into its normal pathway. “The ETV has successfully rid Jeffrey of shunt dependence in the years since,” says Warf. “Jeffrey’s parents will no longer need to worry about shunt malfunctions.”

Even though we came to the center for orthopedic care, we needed to address the shunt problem first to get Jeffrey stable. ~ Michelle, Jeffrey’s mom

With the shunt removed and the ETV a success, orthopedic surgeon Dr. Lawrence Karlin could focus on treating Jeffrey’s clubfoot. “Dr. Karlin looked at Jeffrey’s spine and hips and explained everything that needed to happen over time in order to meet our goals,” remembers Michelle. “Nobody had looked at our son’s whole skeleton like that before.”

Using a staged approach, Karlin performed tendon and ligament releases and bone reshaping surgeries on Jeffrey’s feet and ankles. His feet are now positioned to improve his overall body alignment, he fits better into shoes and is free of the painful sores caused by the ill-fitting braces.

Always ready for what’s next

With a complex condition like spina bifida, it can be overwhelming for families to know how and when to respond to the various symptoms that arise. Michelle and Matt find comfort in knowing their team at Boston Children’s approaches Jeffrey’s care holistically — doing what is right for him, at the right time. “The clinicians here live and breathe your child,” says Michelle. “They don’t just know about what you’re talking about today. They know everything about your child.”

Like most children with spina bifida, Jeffrey was born with neurogenic bladder, a condition in which the bladder does not store or empty properly. Although Jeffrey’s parents were initially able to manage their son’s condition with medication and self-catheterization, they had been told by urologist and director of the center, Dr. Carlos Estrada, that Jeffrey would likely need bladder augmentation surgery in the future. And indeed, by the time Jeffrey was eight years old, his condition had worsened. It was time for surgery.

In July 2017, Jeffrey underwent surgery by Estrada to increase his bladder capacity and make it easier to catheterize through a new channel that connects his bladder to his umbilicus. To better manage his neurogenic bowel, surgeon Dr. Terry Buchmiller also created a channel through which Jeffrey irrigates his colon to provide continence. Estrada and Buchmiller work closely to coordinate their surgeries and provide the best for Jeffrey’s and his family.

Looking to the future

The recent bladder surgeries were a success, but there are new challenges. Every afternoon, Michelle gives Jeffrey fluids through the channel into his colon that help move stool through and out of his body — a process that causes him painful gas.

Michelle is hopeful, though.

“It’s so hard in the moment to see your child suffer. But I try to channel my emotion into productivity. I just keep moving forward and do what I need to do to make things better for Jeffrey.”

Michelle, Matt and Jeffrey will continue to visit the center for checkups and pressing issues, always with an eye toward Jeffrey’s long-term needs and goals. And just as with the first visit, Rebecca will coordinate all of Jeffrey’s appointments, and communicate with and train Jeffrey’s school and local doctors in New York whenever there are changes to his condition or medication regimen. “Rebecca saves me so much time and energy and I trust her completely. She is my guru and my hero,” says Michelle.

Jeffrey, who had a clubfoot, with nurse and mom in hospital

Every minute Rebecca saves Michelle and Matt is a minute they use to give Jeffrey the best life possible. Their dedication shows. Jeffrey is inquisitive, calm and kind. He loves school, swimming and his parents. He knows every single president, state and capital and country. At his latest visit, Rebecca tested him, “Capital of Massachusetts?” she asks. “Easy,” he laughs, “Boston!”

Michelle smiles. “Our life isn’t all rainbows and butterflies,” she says, “but we are very happy.”

Learn about Boston Children’s Spina Bifida and Spinal Cord Conditions Center.