Epilepsy: A mother and scientist advocates for new research and investment
by Catherine Jacobson
My son’s first seizure happened when he was 14 weeks old. Ben was in the Baby Bjorn on my chest, apparently a peacefully sleeping infant. His eyes opened and rolled back into his head. It only lasted a few seconds. The first time it happened, I had no idea that it was a seizure. It took a few days and multiple, increasingly longer, episodes for me to realize that I should take him to the pediatrician’s office. Ben had a seizure in front of his doctor, who immediately admitted him to the hospital for a video EEG. For the next few weeks, they told us not to worry. Most babies’ seizures are easily treatable with medication. Most babies outgrow their seizures. Almost six years later, Ben is still having daily seizures. They have morphed over the years, getting longer and more severe. For the last two years, his seizures have lasted more than 15 minutes. He stops breathing during the initial tonic phase and turns blue. We keep an oxygen tank by his bed. He bites his lips and tongue which leaves a bloody stain on his pillow. His face grimaces and his little body convulses grotesquely. Almost every day. Even after trials of 12 different anti-seizure drugs. Even after surgical implantation of a vagus nerve stimulator; you can see the round disc through his skin by his left collarbone, its attached wire running under the skin up his neck. Even after resective brain surgery – during which he lost half of his right parietal lobe – and which left a wide scar that leads from just behind his right ear in an arc to the back of his head and up to his forehead.
This disease has devastated me. Unlike my husband, who says I can’t live and die by every seizure, I am in tears after most seizures. They are horrific to witness; it has not gotten easier over the years. Yet, I am grateful. Ben doesn’t have drop attacks. These are a particular type of seizure that can happen at any time, without warning. Children with drop attacks break bones and get concussions. I am grateful that Ben doesn’t experience ictal fear anymore. When he was two years old, he would scream out in absolute terror during a seizure. Now, he goes to sleep right after the seizure and wakes up the next morning, fairly well recovered. I am grateful that Ben is a happy child who lives in the moment. He doesn’t seem to know that he has these awful seizures in his sleep. I am incredibly grateful for that. When Ben was two, I made a choice not to be a suffering mother, to let joy live side by side with grief. It has taken me almost six years, but I do now get glimpses that life can be joyful. This disease has taken a big toll on me and my family, but it hasn’t beaten us.
An estimated 3 million Americans and 65 million people worldwide suffer from epilepsy. Thirty percent of these patients live with uncontrolled seizures. That is, current treatments do not stop seizures from occurring in almost 1 million Americans and 20 million people worldwide. Sudden Unexpected Death in Epilepsy (SUDEP) accounts for 34% of all sudden deaths in children. Epilepsy affects more people than multiples sclerosis, cerebral palsy, muscular dystrophy and Parkinson’s disease combined – yet receives fewer federal dollars per patient than each of these diseases (cureepilepsy.org). I want epilepsy removed from the shadows, talked about openly, and given the amount of attention commensurate with its impact on the population.
Drug development efforts have, unfortunately, failed to address treatment-resistant epilepsy. The percentage of patients living with uncontrolled seizures has not changed over the last 50 years despite the development of ~30 new drugs. There are a few reasons for this: two-thirds of diagnosed epilepsies have no known cause; animal models don’t adequately model human disease; and most of the drugs are not rationally designed – they are blanket drugs that serve to decrease overall excitability in the brain. The problem with that approach is that epilepsy is not one disease. Brain malformations, metabolic disorders, brain trauma, and ion channel mutations are just some of the molecularly very different known etiologies underlying epilepsy. These all likely require distinct treatments. History shows us that traditional hypothesis-driven research cannot adequately address the complexity of this brain disease. Orion Bionetworks engages in a completely different approach to understanding brain disease – hypothesis-generating research that harnesses the power of big data analytics. This approach can both help us understand the natural history of the disease, and identify molecular pathways as drug targets that might otherwise remain undiscovered. I am incredibly optimistic that Orion, through its partnerships and whole brain approach, can make a meaningful difference to people not only living with epilepsy, but all brain disorders that it tackles. In the world of scientific discovery, true collaboration serves the patient best, but is very rare. Orion’s approach depends on collaboration; it openly and freely shares its data to encourage new discoveries.