AJ’s life was relatively uncomplicated until age 14, when he began to experience unpredictable seizures and received a life-changing diagnosis of epilepsy. Today, a small, battery-powered device surgically implanted into his brain is helping to control his seizures.
AJ’s first seizure happened on a family trip to Boise, Idaho. He was on a moving walkway in the Salt Lake City airport and started to have an aura. When he got to the end of the walkway, he dropped his bags, fell to the ground and had a seizure; his left arm hovered over his chest and he stared blankly into the distance. The seizure lasted about a minute.
His parents took him to a physician in Boise who diagnosed AJ with epilepsy and prescribed him anti-seizure medication. AJ had two more seizures on the trip. When the family got back to their home in Phillipsburg, NJ, AJ went to a nearby neurologist who prescribed a second medication.
Even with two medications, the seizures continued. They would take two forms: mild seizures lasting about 45 seconds that AJ recovered from quickly, or harsher, convulsive seizures that lasted two to three minutes and involved his whole body. For the longer seizures, AJ would black out and have no memory of the episode, but would be exhausted afterward. His only warning that a seizure was coming was an aura about 10 seconds in advance. Some people’s auras take the form of flashing lights or zigzag lines; in AJ’s case, it was an unusual sensation.
Seeking specialized epilepsy care
AJ’s mom, Teri, did some research online and came across the Pediatric Epilepsy Program at Children’s Hospital of Philadelphia (CHOP), which is about a 1½ hour from Phillipsburg. The program is an accredited level 4 epilepsy center that specializes in the diagnosis, evaluation and treatment of children and adolescents with seizures and epilepsy.
Teri reached out to the program coordinator and made an appointment for AJ to undergo a comprehensive evaluation. Diagnostic tests determined that part of AJ’s brain hadn’t developed correctly from birth. Marissa Di Giovine, MD, AJ’s neurologist and Director of CHOP’s Responsive Neurostimulation Clinic, and other members of his care team were shocked that AJ had lived so long without having a seizure and at how functional he was.
“One wouldn’t realize the extent of his condition by merely looking at him or speaking to him,” says Dr. Di Giovine. “He is an exceptionally intelligent young man both academically and emotionally, and physically, he is quite athletic.”
Dr. Di Giovine modified AJ’s medications but the seizures continued. When seizures don’t respond to medication, in some cases, the epilepsy team at CHOP considers surgery to remove the part of the brain causing the seizures, provided it isn’t too close to brain tissue that controls critical functions. Children who undergo the surgery can become seizure-free or have significantly fewer or less severe seizures.
StereoEEG to pinpoint seizure location
First, the team needed to identify the point or points in the brain where AJ’s seizures originated. AJ would need to undergo stereoelectroencephalography (also known as sEEG or stereoEEG), a minimally invasive surgical procedure in which electrodes would be implanted directly into his brain around the area his physicians thought was causing his seizures. Benjamin Kennedy, MD, Director of Epilepsy and Functional Neurosurgery at CHOP, and his team in the Neurosurgery lab at CHOP are doing research to understand epileptic networks electrically using sEEG, as well as elucidate the genetic mechanisms of brain malformations, with the goal of developing more effective therapies for patients like AJ.
AJ was taken off his medications and spent 19 days in the hospital. During that time, his doctors monitored his seizures to see where exactly they were coming from. Understandably, the idea of brain surgery can be a scary thing for families, but sEEG is well tolerated by children of all ages. Dr. Di Giovine says AJ came out of neurosurgery smiling and gave her a thumbs-up.
“He approached the whole situation with more grace, bravery and humor than I could have ever hoped for with any of my patients,” says Dr. Di Giovine.
The procedure found AJ’s seizures originated from a large area on the right side of his brain that was very close to the area of the brain that controls hand sensation and movement. The team was concerned that removing the abnormal part of AJ’s brain would affect his ability to move his hand. Dr. Di Giovine told the family about a brand-new treatment that offered a better option for AJ.
Responsive neurostimulation to control seizures
Responsive neurostimulation (RNS) is a cutting-edge treatment for seizures in which a small, battery-powered device is surgically implanted into the skull with electrodes leading to points within the abnormal part of the brain where seizure activity is originating. When the electrodes sense abnormal brain activity, they emit mild electrical pulses that prevent or shorten the seizure. A piece of the skull is removed so the neurostimulator is flush with the outer surface of the skull, and it is put in a place where it is hardly noticeable in a child’s hair.
Because RNS is an advanced, precise procedure, it should be performed in a hospital with expert pediatric neurosurgeons and neurologists who have experience caring for children before during and after RNS surgery.
Dr. Kennedy implanted the device in AJ’s brain when he was 18. Shortly after the procedure, AJ and his family moved to Colorado. AJ is now 19 and a freshman studying business at the University of Colorado in Colorado Springs. He says he’s happy he has the device.
“I feel like I’m pretty well protected by it,” he says. “It makes me feel a lot safer.”
Refining the device so it controls all of AJ’s seizures is a process that could take a few years. It requires AJ to keep diligent records about his seizures. Every day, he uses a remote monitor to collect data from the neurostimulator and uploads the data to a secure web database. He has follow-up appointments every three months with his new medical team at an adult RNS clinic in Colorado. At each visit, the care team adjusts the neurotransmitter to improve its detection and reduction of seizure activity.
Living his life
With each adjustment of the neurotransmitter, AJ has seen an improvement. Already, his seizure frequency has decreased 50 percent since the device was implanted. The goal is to be able to completely manage the seizures with the device so AJ can come off his medication. AJ looks forward to that day. He’s excited to do things like get his license to drive and go swimming.
“He is the most positive upbeat person,” says Teri. “Even if he has a setback because of a seizure, the way he reacts to it is amazing. He doesn’t let this change anything in his life. He’s never felt sorry for himself or been depressed about it. That’s just his personality.”
Sometimes, depending on where AJ is when he has a seizure, it can be scary, he says, but he’s learned to manage. When he gets an aura, he just tries to find a safe place where he’s not going to hit his head.
“It’s not that bad,” says AJ. “It doesn’t really affect my life majorly. I live a totally normal life.”
“I am so proud of AJ and the man he has become,” adds Dr. Di Giovine. “He was a trailblazer.”
Update: November 2019
AJ is now a student at the University of Colorado at Colorado Springs, where he enjoys hiking the mountains of Southern Colorado. He is working with a neurologist at the University of Colorado in Denver every two months to make adjustments to his RNS system to help minimize his seizures. He's currently averaging about 1 seizure a month and continues to monitor his sleep, stress, and diet to stay healthy.