I had gotten home from a business trip at 3 AM. 5-month-old M woke up for the day at his usual time, around 6:30 AM, and I was wrecked and not prepared to go to work yet, so I brought him into bed with us and let him nurse back to sleep. Around a half hour later, as I was still dozing, I felt his body start jerking rhythmically next to me. We spent a few minutes trying to figure out what was going on - he was still aware, and would respond to his name being called, though he couldn't turn his head to look at whichever of us was calling him - and the jerking wasn't stopping. I suddenly realized something was really wrong and called an ambulance. He was still jerking when they arrived and used the word "seizure" - in the fog of things I can't remember exactly how long it lasted, but it was at least 15 minutes. Really damn long for a seizure.
After a trip to the ER, a transfer to our Children's Hospital, an overnight stay, a short EEG, and two MRIs (one failed, one successful), they ruled out things like brain tumors and blamed the seizure on a mild fever they measured at the ER some time after we arrived. The neurologists were definitely bothered by his age and the duration of the seizure, since neither was typical of the benign febrile seizures many infants have, but they sent us home and we felt relief.
All was well for several months until I got a call at work that my husband was on the way to the ER in the ambulance - again - after M had another seizure. It happened again 24 hours later and we spent another weekend in the hospital. Then again a month later. All with fevers, but all long seizures, all different types, all atypical for benign febrile seizures. When they took blood for a genetic test the third time we were admitted, I started googling and discovered something called Dravet Syndrome - a rare and catastrophic form of intractable epilepsy whose symptoms matched M's to date. Sitting in the hospital that night reading every study I could find online, I went from relief that there was A Thing that explained what was going on to horror as I began to understand what the implications could be. His medical team confirmed that this was something they were testing for, but said it could still be a number of other, less severe things. Six weeks (and another cluster of seizures) later, we got the test results - he had a missense mutation in one of his SCN1A genes, a mutation associated with Dravet spectrum epilepsies.
The mutation is most likely de novo - random - rather than inherited; I'm still waiting for the results of a test on myself, since my family has a strong history of a type of migraine that is sometimes the result of an SCN1A mutation. But neither of us has any history of familial epilepsy. It's 99% likely that this was a random fluke of cell division. Just shitty luck.
Working with his excellent team of epileptologists and neurologists, we've leapt into what action we can: putting him on an anti-epilepsy drug called Keppra, starting him on a therapeutic version of the ketogenic diet shown to be effective in controlling seizures, and engaging with our state's Early Intervention services to identify and attempt to mitigate any developmental delays. Seizures are now, for the most part, a depressing part of life rather than an immediate trip to the emergency room. M, meanwhile, has no idea what's going on and is a happy perky kid who enjoys chasing our Roomba, annoying his sister, and climbing everything in sight.
We, his parents, are scared shitless about what the rest of his life will look like. He may get lucky and lead a typical life except for the occasional seizure. He may experience a few delays or physical issues, but otherwise develop mostly typically and lead a fairly normal life. Or he may plateau in development and never live independently. Or he may fall victim to SUDEP, since the long seizures due to SCN1A are especially likely to result in dangerous status epilepticus. We delight in his cheerfulness and applaud every developmental milestone but can't do so without remembering what could still be. It's a draining dichotomy.
We've gone through a number of stages of grief with the diagnosis, and other parents I've met whose kids have the same or similar conditions warn me it won't be the last time. But being very action-oriented people, we are doing what we can, controlling what we can, and hoping with every fiber of our beings that it will be enough. Other than that, we just have to wait and see.
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