No one knows exactly what causes epilepsy. Devinsky is one of 150 experts involved in the Epilepsy Phenome/Genome Project, a government-funded study to find genetic causes/influencers of epilepsy and genes affecting the response to treatment. The study involves 5,250 people. According to the project’s website, “The goals are to better understand what causes epilepsy, why some families have several people with epilepsy, and how we can better predict which anti-seizure medications (or no medication) will work best for an individual.”
“If people do know that there are two siblings or parents and children with epilepsy, we would be interested in talking to them,” Devinsky says.
Genetics is only a small part of epilepsy. “Anyone can get it from a car accident, a stroke, a tumor, Alzheimer’s, or an infection like meningitis,” the doctor explains. And while the important piece of the puzzle might be the source of the disorder — although many people believe there is causality where none exists, he says — just as important is controlling it and having a good quality of life. Quality of life could mean finding a new job, because seizures prevent a person from working in certain fields, such as operating heavy machinery or where driving is required.
Quality of life also extends far beyond the seizures: “The disorder continues to carry a significant stigma,” he says. Children can be insensitive to others with the disorder. Other children’s parents, teachers, and others don’t understand the disorder, which is why Devinsky suggests people say they have a “seizure disorder” rather than “epilepsy,” although he recommends in his book that his patients get comfortable with their condition because, “People see you through your eyes. If you are afraid of epilepsy, they will be afraid of it. It is a neurological disorder; if you are comfortable talking about it, then almost everyone else will be.” Devinsky founded FACES to challenge the stigma and educate the public to improve people’s quality of lives.
Quality of life doesn’t only mean not having seizures but few or no side effects from anti-epileptic drugs (AED). “Do not accept troublesome side effects without finding out if they are avoidable,” Devinsky recommends. For example, “Sally” was just starting to speak, but when she was put on Topamax, an anti-epileptic drug, her speech was shut down. “On the lower dose it slowed down and became more effortful, and as we pushed it up she stopped speaking,” one of her parents says. Five days after they took her off the medication, she was speaking again. Side effects or not, parents must build their children’s self-esteem, and cultivate it in themselves.
In addition to AED, people with epilepsy can go on special diets, use alternative therapies like biofeedback and, if all that proves ineffective in controlling the disease, can consider surgery. Today, people whose seizures cannot be effectively controlled for one to two years are considered candidates. “In general, the patient should be treated with at least two single drugs, or a combination of two or more drugs before surgery is considered,” Devinsky says. There are two main types of surgery: Lobotomies, which are resective surgeries, in which the part of the brain causing the seizures is removed; and the less common corpus callostomy, which is a disconnection “interrupting nerve pathways along which seizure impulses spread.”
Experimental trials are under way to test other solutions. “There is an explosion of scientific information on how the individual neurons work and how they communicate in normal and diseased conditions,” Devinsky writes. Solutions include early seizure detection like magnetic resonance spectroscopy (MRS) to discern biochemical changes in the brain, as well as using a device to sense a seizure’s onset and release medication directly to the troublesome brain area to prevent a seizure. “Right now, we’re focusing on treating epilepsy, but this device can eventually be of enormous benefit to patients with Parkinson’s disease, Alzheimer’s disease, and stroke victims,” he says. Other trials include using brain stimulation like biofeedback to prevent seizures, and transplantation of stem or fetal cells.
Ultimately, though, there is not one cure for epilepsy, since it’s a spectrum of disorders. But the vision is still the same, as Hirsch succinctly says: “Our goal to completely stop seizures in every patient. Completely.”
This article was originally published in the print edition of Brain World Magazine.
