Persistence, teamwork, high-tech imaging, and surgical advances help 10-year-old boy leave his disabling seizures behind
It seemed at first that Alex might be joking. But if he was fooling around, it was a haunting act; in the middle of whatever he’d been doing, the handsome 7-year-old boy would suddenly put on a vacant stare and emit “a fake, hollow laugh,” his father, Jorge Borbolla, says. Then Alex would raise his hand to his face as if checking his own forehead for fever. A moment later, he would lean forward. Sometimes he would collapse.
The episodes were occurring several times a day. “Once one of these started, we couldn’t snap him out of it. Eventually we realized, he’s not putting us on,” says Jorge. He and his wife, Christianne Mares, recorded one of the episodes and emailed it to Alex’s pediatrician, who referred the family to Stanford Medicine Children’s Health, where their medical odyssey began. Over the coming week, as their doctors sought a diagnosis, Alex’s episodes became more intense and frequent. Soon, he was having up to a dozen attacks a day. “It could happen while he was walking, swimming, or riding a bicycle. And he could go down … really fast,” says Jorge. “It was dangerous.”
A brain MRI revealed no structural abnormalities, says Juliet Knowles, MD, PhD, Alex’s pediatric neurologist. Using conventional electroencephalogram (EEG), Dr. Knowles identified a source of abnormal, uncontrolled electrical activity, seizures, starting in Alex’s right frontal lobe. Alex had epilepsy. In those first few weeks, he was given five different anti-seizure medications, none of which helped him for more than a couple of days. “It was an exhausting and disorienting time,” says Jorge. “Parents need to know that it’s not always a straight line to diagnosis and treatment.”
Stereo EEG
At the weekly meetings with the multidisciplinary epilepsy team—imaging specialists, geneticists, neurologists, neurosurgeons, and psychiatrists—complex cases like Alex’s can be examined from every angle. It was at one of these meetings that the team agreed it was time to deploy for Alex one of the pediatric epilepsy program’s most powerful new tools: stereo electroencephalography (or sEEG). Since its adoption by the epilepsy team four years ago, it has helped pinpoint precisely where in the brains of young patients seizures are starting.
Employing a remarkably precise robotic surgical tool called ROSA, neurosurgeon Gerald Grant, MD, inserted 15 super-thin electrodes deep into Alex’s brain, enabling Dr. Knowles and other epileptologists who interpret the electrode recordings to create a precise three-dimensional picture of where Alex’s seizures began and how they spread to neighboring functional tissue. The aim of epilepsy surgery, says Dr. Grant, is to interrupt the seizure network and to remove as much of the seizure-causing tissue as possible without damaging the surrounding functioning brain. Stereo EEG makes the kind of resection surgery that Alex needed very much safer and more effective at curing seizures.
By superimposing information from stereo EEG onto Alex’s own brain MRI, Dr. Knowles and Dr. Grant found that the area of the brain causing the seizures was bumping up against Alex’s motor cortex, the key part of the brain controlling Alex’s left arm and leg. Damaging the motor cortex, which could cause partial paralysis, was out of the question, says Dr. Grant. On the other hand, the team was determined to remove as much of the troublesome tissue as possible, or the seizures might return over time. So, they had to operate with exquisite precision, and the stereo EEG gave them to power to do that.
To everyone’s surprise, after the stereo EEG was complete, and as the epilepsy team prepared for resection surgery based on its results, Alex’s seizures abruptly stopped, probably interrupted by the insertion of the electrodes, which disrupted the seizure network.
“At every meeting with Alex’s parents, we discussed the possibility that the seizures could return. So, they were ready for that,” says Dr. Knowles. “But after nine quiet months, we were all beginning to hope that they just wouldn’t.”
Then, one day, about a year after his stereo EEG, the haunting laughter spells began again. “They returned like a tsunami: slowly at first and then fast and strong,” says Jorge, “until they were as bad as before.”
Still hoping to avoid brain surgery, the Borbollas put Alex on the high-fat, low-carbohydrate ketogenic diet (a medical diet that helps quell many children’s seizures) and a novel CBD oil therapy, neither of which helped. Together, the family and the epilepsy team decided it was time to proceed with the surgical plan laid out a year earlier.
Resection surgery
During the surgery, Dr. Grant employed a powerful digital tool made by Synaptive Medical Inc. that reveals the functional tracks linking different parts of the brain. It’s important to know where these invisible electrical highways are in order to avoid disrupting them during surgery. During the operation, Dr. Knowles and Dr. Grant also used electrocorticography (measuring electrical activity directly from the surface of the brain) to even more precisely identify (on the scale of millimeters) the area of tissue causing seizures in relation to key motor areas. Knowing that he was cutting close enough to the motor area that Alex might experience some weakness in his arm, Dr. Grant, guided by Synaptive’s suite of digital tools, proceeded with extreme caution and, right in the operating room, performed complex mapping of the parts of Alex’s brain controlling his left arm and leg. “I knew Alex would be weak afterwards, but I also knew that weakness would be temporary.”
“If we had left in that last little spot that we identified in the OR,” says Dr. Knowles, “Alex might well have started having seizures again.”
After seven hours, the surgical team emerged from the OR. They had removed the entire lesion causing the seizures as planned without damaging any essential brain structures. The operation was a success!
Alex recovered in the hospital for four days after his surgery. As Dr. Grant had warned, Alex’s left arm was a little weak at first, but “after just a couple of weeks and a few physical therapy sessions, it was like nothing had happened,” says Christianne. Now Alex is seizure free, back in school, and feeling fine.
He will continue to see Dr. Knowles a couple of times a year as he slowly weans off his two anti-seizure medications. “Our goal is for him to be medicine free within two years of his surgery,” says Christianne. And with Dr. Knowles’s help, the Borbollas are confident that they will get there.
“Dr. Knowles is our guardian angel,” Christianne says. “But everybody on the team was so capable and warm,” adds Jorge. “They made one of our life’s toughest experiences bearable. We could not have wished for a better outcome. And we can’t thank them enough.”
The physicians are grateful too. “Alex is an incredibly courageous kid with an amazing family, and working with him has been an absolute privilege,” says Dr. Knowles. “He is also a brilliant kid,” adds Dr. Grant. “If we can keep him seizure free, his whole life can open up: school, sports, relationships, driving, self-confidence. Everything changes! Helping a family like Alex’s is one of the most gratifying things we do.”
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