This month, promising new research on genetic connections to drug resistant epilepsy, or DRE, leaves me hopeful, despite America’s current isolationist leanings and the recent cuts to the National Institutes of Health’s funding. A joint effort of the University of Texas-Houston and the University College of London, their new study found a link between the presence of specific genetic variants, and a higher risk of DRE. These two genes are often found in patients with DRE and can influence their response to anti-seizure medications. While this sounds wonky and technical, it’s exciting, because it provides important insights into the 30% of people with epilepsy who can’t control their seizures with medications. I am part of that 30%. As somebody who had uncontrollable seizures for decades, I’m thrilled to learn that neurologists have new information to develop more effective treatment plans for newly diagnosed patients with epilepsy.
I was diagnosed with epilepsy at age six, but my mother knew something was amiss long before that. She recounts a day when I was only two–not much older than I am in the above picture. We were home alone when my body began twitching uncontrollably in the crib. She watched in horror that progressed into panic when my face turned slightly blue. Something was obstructing my breathing! My mother called the doctor, who told her to come in immediately. Luckily his office was a few blocks away. Clutching me in her arms, my mother ran there.
The doctor said I’d had a febrile seizure. Since I was only two, it was possible that I wouldn’t have more in the future–sometimes seizures caused by fevers were a one-time occurrence. He prescribed an emergency anti-seizure medication and sent us home. A few years later I had two tonic clonic (aka grand mal) seizures within six months of each other. The doctors diagnosed me with epilepsy, and put me on Dilantin, the launch of my 40+ year seizure-control odyssey.
Compared to today, neuroscience technology was very basic back then. They didn’t have MRI’s or CT scans. Neurologists ordered EEG’s, which record patients’ brain waves, and they vetted the results for abnormal spikes on the readout graphs. They certainly didn’t have genetic testing, to determine if a patient would be likely to respond to anti-seizure medications. Instead, neurologists relied largely on trial and error, with a little hope mixed in as new medications became available. Dilantin was the first of 14 anti-seizure medications I tried. My seizure-control journey went on for over 40 years—it wasn’t successful until I had two brain surgeries in 2014, a story I describe in my memoir, Seizing Control.
This is the third piece in less than 18 months that I’ve written about studies demonstrating the powerful role genetic testing can play in epilepsy treatment. I’ve been seizure-free for almost ten years, but I still get excited about this research field. I recall that day my mother described, and I imagine how differently my epilepsy journey would have been, had the doctors had access to genetic testing. Then I think about all the patients who are being diagnosed with epilepsy now, and I am happy to know that genetic testing is becoming a common option in neurologists’ toolboxes. As I described in a recent blog, the tests are noninvasive and very affordable compared to CT Scans, EEG’s and MRI’s. Most importantly, patients can avoid multiple rounds of unsuccessful medications, which can go on for decades and feel like futilely throwing spaghetti against the wall, to see what sticks.
Leave a Reply