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 about two—not much older than I am in this picture. We were home alone when my body began twitching uncontrollably in the crib. She watched in horror that progressed to panic when my face turned slightly blue. Something was obstructing my breathing. My mother called the doctor, who instructed her to come in immediately. Luckily his office was only 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 spurred on by fevers were a one-time occurrence. He prescribed an emergency anti-seizure medication and sent us home.
Rapid genome sequencing (rGs) is a cutting-edge technology that tests for DNA changes, which can cause or contribute to a medical condition. An international study led by the Murdoch Children’s Research Institute in Australia is the first to examine rGs as a way of quickly diagnosing new-onset epilepsy in babies. Test results are available within three weeks, far faster than the currently available genetic tests that take months or even years to yield results. Dr. Katherine Howell, the study’s co-author noted, “Identifying the cause early can help guide treatment options, such as medication changes, which can improve seizure control.” Seizures beget seizures, so effective efficient diagnosis is critical to successful epilepsy treatment.
After that scary episode in the crib, I didn’t have any noticeable seizure activity until more than three years later when I had a grand mal seizure. I was diagnosed with epilepsy. The doctors put me on a long-term anti-seizure medication and referred me to a neurologist. Had rGs sequencing been available in 1969, the doctors would have likely diagnosed my epilepsy years earlier, and I might have had a more effective treatment plan. Instead, I had two grand mal seizures within six months of each other, followed by a decades-long journey where I tried 13 different anti-seizure medications, none of which were successful. Tired of failure, I opted for elective brain surgery when I was 47. While the procedure was glitchy, requiring a follow up emergency brain surgery, it ultimately stopped my seizures.
Almost as important as effective treatment is patient access to explanations and answers. Until very recently, people who were diagnosed with epilepsy that didn’t have an apparent cause such as a brain injury or structural brain abnormalities were said to have idiopathic epilepsy–my diagnosis at age six. In the medical world, idiopathic typically means “cause unknown.” Getting diagnosed with an uncurable condition that had no obvious scientific explanation felt infuriating and unfair.
The word idiopathic originally comes from ancient Greek, idios, meaning one’s own, and pathos, disease, the literal translation “one’s own disease.” Given this vague puzzling definition, it’s not surprising that over the millennia, epilepsy’s mystery resulted in outlandish explanations and enormous stigmas, which still exist today. During Medieval times, physicians believed epilepsy was the result of demonic possession and people with epilepsy were treated as witches and warlocks. During the witch craze, many women with epilepsy were condemned to die at the stake. Another commonly held belief was that epilepsy was contagious, transmitted through the patient’s breath. Thanks to medical advances and research, these practices and beliefs have been largely dispelled in the U.S. But there are still places in the world where myths persist.
In recent years, the phrase idiopathic epilepsy has fallen out of favor, replaced by genetic generalized epilepsy. I am grateful and relieved for modern-day practitioners’ acknowledgement that indeed, there is a scientific explanation and term for the condition.
I’ll never know if rGs would have allowed me to avoid brain surgery. But I’m thankful that Dr. Howell’s team is working to make rGs accessible to the families of infants with genetic generalized epilepsy. Hopefully these children will have an easier epilepsy journey than mine.