Jude's Story

On the day he was born there were signs that her son, Jude, might have a problem, says his mom, Jennifer Nesbitt. "He had a spot on his back, and I was like, hey, what's this? Also, he wasn't moving his left leg very well. That's when everything hit the fan."

Jude's obstetric team at a hospital near the family's home in Georgetown, South Carolina, noticed the same mark and ordered an ultrasound. The imaging test revealed a myelomeningocele, the most serious type of spina bifida, a disease that can ravage and shorten patients' lives. It occurs when part of the spinal cord protrudes from the spinal column and forms a fatty tumor under the skin. Because the spinal canal does not close completely and attaches itself to the tissues of the back, the nerves of the spinal cord can be seriously damaged.

"I was terrified. It was a very scary time in my life," says Nesbitt. "I never had a medically fragile child."

The hospital transferred Jude by ambulance to the Medical University of South Carolina (MUSC) Shawn Jenkins Children's Hospital in Charleston, which is experienced in treating the disorder. There, Jude's parents met pediatric neurosurgeon Ramin Eskandari, M.D., who noted the need to admit Jude to the Neonatal Intensive Care Unit (NICU) where he could be watched closely.

"A lot of times a myelomeningocele is discovered as the child gets a little bit older, as it grows with the patient," Eskandari explained. "It leads to spinal cord injury because the fat on the outside is actually inside the spinal cord, trapped in there and tethered to it, where it keeps growing."

Undetected and untreated, Eskandari added, outcomes may include impaired bowel and bladder control, frequent urinary tract infections, muscle weakness and sensory loss in the legs, difficulty walking and scoliosis. The standard treatment is to surgically untether and release the spinal cord from the fatty tissue with scalpel and laser before the child experiences neurologic symptoms. Covering the exposed spinal cord and nerve roots can also reduce the risks of cerebral spinal fluid (CSF) leaks and central nervous system infection. But precisely when to operate may make a dramatic difference for the child's outcome — too soon and the growth of spinal nerves may be compromised, or too late damaged, both inviting possible serious complications.

"The hard part is knowing when to do it from both the patient side and protecting the nerve potential in the spinal cord," says Eskandari.

First, a baseline for Jude's nervous system would have to be established, which could be measured in the NICU. Eskandari had another thought: Could neurologist Amy Chen, M.D., conduct Nerve Conduction Studies (NCS) of Jude's peripheral nerves, which measure how fast electrical impulses travel through a nerve, which in turn would help determine the healthiness of the nerve roots near the spinal cord? That, in turn, would help determine his baseline and the ideal time to surgically release the cord. How is the study conducted on infants?

First off, although a low-voltage electrical current is used, Chen explains, patients can feel and react to a quick sharp pain. "An infant will react to this stimulation and may not be able to stay still for the procedure," says Chen. "We need to explain the rationale in conducting this painful procedure to the parents so they are onboard."

The study, she adds, would have to be done on both sides of the body, if possible, to allow side-to-side comparisons of the nerve responses coming off both sides of the spinal canal. "If we see a change in the nerve responses, we will need to see if it matches up with what the patient's family see and what the doctor's examination show," Chen says. "If the first study is normal, a series of studies need to be performed over time, once every three to six months, so we can track how the nerve responses are increasing as they typically do with growth and development of a child."

Coupled with Jude's clinical assessment gleaned from imaging and physical exams, says Eskandari, the NCS results and data were "extremely critical" in Jude's case. At nine months, he explains, the latency, or time it takes for the electrical impulse to travel from the stimulation site to the recording site, declined a bit: "It didn't improve the way it should have, and we decided to do the surgery around that timepoint."

Now the chief concern was keeping the surgery as safe as possible for the patient, in large part through the role of the Intraoperative Neurophysiologic Monitoring (IONM) team, headed by clinical neurophysiologist Jessica Barley, Ph.D., CNIM. She describes their primary role as "advocates of patient safety" in providing real-time assessment and feedback of patients' function "from the cortex of the brain to the bottom of the feet" to the surgical team in the OR: "We are like air traffic controllers guiding the pilots, the surgeons, by seeing the entirety of the patient's neurophysiologic status and letting them know when it's time to land the plane."

Pediatric orthopedic surgeon Robert Murphy, M.D., who treats patients with myelomeningocele who develop scoliosis, adds, "The IONM team is able to map and track the fidelity of the neurologic signals from the brain down to the neurologic structure, allowing us to make on-the-fly corrections." How?

In a mini-version of a NASA tracking station, the IONM team monitors signals from 40 to 50 subdermal needle electrode connections to the nervous system, which are translated and amplified digitally on a large screen as waveforms, or what the team colloquially refers to as "squiggles." Certain changes to these waveforms, however, may signal an alert — a significant negative percentage change from the patient's baseline in one or more nerve connections due to surgical manipulation, physiologic changes and patient positioning, among other factors. In such instances, the operation comes to a sudden halt.

"Changes can happen pretty quickly and when one does occur the OR takes a pause as attention is drawn to the alert," says IONM team member Lindsey Akers, MS, CNIM. "We then deal with the change by performing an intervention, which may include adjusting blood pressure and anesthetics, and administering protective medications like steroids to mitigate any possible damage to the spinal cord and nerve roots."

But identifying the cause of an alert and resolving it is no simple matter, explains IONM specialist Lakota Jones, MS, CNIM. There are many factors at play.

"Not only do we have to know and understand what we're looking at on the screen, but also what's currently going on in the procedure, especially the crucial parts where we may potentially see changes in data," says Jones. "I might alert the surgeons that I see a decrease in the patient's left quad muscle, and they ask, 'What does that mean, what do I do?' So, you have to be thinking about what's happening in that procedure when you get a significant data change and how to quickly direct the appropriate intervention to the team."

When a neurologic decline is reversed, Jones adds, there's a sigh of relief across the OR: "When the surgeon responds to an alert by saying, 'OK, this is what we're going to do,' a conversation begins with the whole OR team and attempts are made to retrieve the signal back to baseline status. When a signal recovery is made in real time, that is so fulfilling."

Fortunately, no alerts emerged during Jude's first surgery to detether fat from his spinal cord at nine months of age. In fact, he recovered well and experienced no apparent post-operative symptoms, which in these cases can include infection, bleeding, and damage to the spinal cord or the myelomeningocele itself, which may result in decreased bladder or bowel function. Murphy credits Jude's family, Chen's nerve studies, IONM and the surgical teams.

"The further along you can get these patients early on, the better they will do," says Murphy. "In Jude's case, he was full-on walking at a young age, which means as he gets older, he will be better able to face new issues that come up."

Not uncommon in children with myelomeningocele, new issues did arise. At six years of age, notes his mom, Jude began to feel a loss of sensation in his left leg and the toes of his right leg. Also, his left leg had a growth discrepancy with his right leg, which required placement of an external fixator, a stabilizing frame in which metal pins are placed into bone through small incisions into the skin and attached to a bar outside the leg.

Then another concern appeared — CSF leaking from Jude's spinal cord, likely related to scarring from his initial detethering operation, which required a second detethering surgery by Eskandari. And not long after that, Jude began to show signs of scoliosis, a curvature in his spine that can be related to the myelomeningocele tethering of the spinal cord. Murphy recommended a growth-friendly spine implant from Jude's pelvis up to his ribs to avoid progression of the curve and promote the growth of his spine, chest and lungs as he grows.

"The implant is lengthened every four to six months through a small incision in his back to mirror and match the normal growth cadence of his spine over time," says Murphy.

"Hopefully, his continued progression of growth will mitigate the retethering or re-scaring part of his pathology again. Overall, he's doing well and had not had any clinical evidence of retethering issues."

There was, however, yet another issue brought to light early on during Jude's stay at MUSC — but this one potentially positive not only for Jude and his family but other patients and families as well. When he was diagnosed with myelomeningocele as an infant, his grandmother was in the room and noticed its hallmark sign on Jude's lumbar spine. "That's what you had," she said to Jude's father, next to her.

Eskandari was startled. "It was one of those serendipitous moments and we started to look into it."

As it turned out, Eskandari learned, Jude's father was also treated at MUSC. Scouring through the records, Eskandari discovered he wasn't diagnosed in the same manner as Jude, there were no imaging references, and a member of the father's NICU team some 40 years earlier was still at the hospital. Interesting, but what Eskandari knew he needed was a team of neurologists and geneticists to isolate and identify the father/son genetic connection to the disease and what it may mean for future patients and their families.

His intuitive next step was to reach out to pediatric neurologist Kenton Holden, M.D., whose "big claim to fame," Eskandari noted, was as a high-level geneticist leading the pediatric genetics team during his 50-year career. After hearing Jude's story, Holden, who was nearing retirement at the time, said he was on board but was there a student he could take under his wing for this project.

That's when Eskandari instantly saw the pieces and players for this research project falling into place before his eyes: "We had a rising star student at the time, Thomas Larrew, M.D., interested in pediatric neurosurgery, who takes on the project along with Dr. Holden, neurologists, neurosurgeons and scientists in the genetics lab."

What did this research team find?

"They discover two genes implicated in this case of familial lipomyelomengocele that had not yet been discovered," says Eskandari, “and the important implications for family counseling (J Child Neurol 2017 Dec;332(14):1118-1122). Just too cool — and our prize student gets into neurosurgery residency, is graduating this year and is going to be a pediatric neurosurgeon."

That Jude's complex case enriched and motivated the minds of those who treated him was no secret. They could not recall a case that led to as much collaboration and new innovative approaches, like seeing the value of nerve conduction studies to hone in on the best time for surgery.

"Dr. Chen led that approach in another five cases before leaving MUSC," notes Eskandari. "Without this modality and the rigor of the studies performed by the technicians and neurologists in the NCS lab, we could not have achieved the level of success we did with Jude and in so many other cases."

Eskandari and others also point to advances in neurophysiological monitoring at MUSC Shawn Jenkins Children's Hospital — not just in the technology but in the kind of compassionate and dedicated people selected for this role and how they have evolved in caring for children. In ways, says IONM specialist Akers, she sees both her role and that of the entire OR team as additional security, at times emergently, for the patient.

"For children especially, this is probably the scariest moment of their life," says Akers. "I enjoy being able to offer them one extra measure of safety, and to say 'Hey, I know this is terrifying, but you've got an excellent surgeon and anesthesia team, you have our team, me and my neurologist keeping an eye on your brain, spinal cord and your nerves, and we're going to do everything we can to make sure that when you come out of this you’re the same as when you went in."

Akers adds that she feels great pride in being part of a hospital-based IONM team at MUSC where, she notes, she has experienced a greater focus on education and the quality of care than as a contract monitoring specialist early on in her career.

"In the five years I have been at MUSC, I have learned so much more than I ever could have learned working outside an academic medical system," Akers says. "With the complexities of the cases and the monitoring techniques we do, we are just a lot more involved. We do research on new and improved modalities, write publications as a team, and present studies at conferences across the country."

Similarly, Murphy points to the resources and earned status of MUSC as the tertiary care center for the state of South Carolina in providing care for patients with complex disease. "He had a tumor inside his spinal cord and a complex deformity of his spine involving neurologic conjoining structures, which we were able to treat through our collaborative approach with neurosurgery and orthopedics, in addition to our expertise in intra-operative neuro monitoring."

Barley concludes, "It's very promising and remarkable to see Jude's path — he's gone through five surgeries and never took a hit. This is the most serious form of spina bifida, but he has maintained function despite a difficult pathology. The timing was huge. From our perspective, he is a success story."

How is Jude, now eight years old, doing today? "He's fabulous," says his mom. "Drs. Eskandari and Murphy are amazing. They made this very easy for us to go through."

She adds, "With the rods from his spinal implant, he is not getting around as fast as he would like. But Jude has always had this unspeakable joy, like all the time, which blows my mind. He has not lost his joy."