Well, hi. It's been a pandemic.
It's been a rough year for everyone. In some ways living in fear of germs comes naturally to us, so parts of the past 18 months have been more bearable for us than for some. On the other hand, M's Dravet Syndrome has continued to grow and evolve as it does, and there have been some especially soul-destroying moments. But he - and we - are in a better place these days, thankfully.
The biggest issue was that he became extraordinarily sensitive to sunlight. He had started having very subtle "blinks" in spring 2020 when he was outdoors in light, which we addressed with a variety of sunglasses. But it kept getting worse, and he was becoming intolerant to overexertion as well, having seizures with something as simple as running around with his sister outside in the summer. We increased his Keppra, which appeared to help a tiny bit with the "blinks", but didn't solve the exertion trigger. So we added Epidiolex.
You may recall we nearly started Epidiolex once previously, then stopped since keto seemed to be doing the job. We were happy to try for real this time given the amazing results we'd been hearing about from people on Epidiolex - seizure control, better cognition, etc. Unfortunately, it ended up making things much worse.
We're in the process of weaning down now, but in the past ten months while on Epidiolex M's light sensitivity skyrocketed to the point that we covered every window in our house to avoid him being exposed to sunlight, he was on a hair trigger for tonic-clonics to the point that five minutes splashing in puddles on our driveway on a rainy cold day triggered a seizure, and the "blinks" became intense absences where his whole body would shudder and he'd come close to losing his balance. We had to have his school keep him indoors for recess daily because he'd starting having seizures on the playground at school. We couldn't take him outside to play *at all* without a seizure - and during a pandemic when the only safe place to go other than your house is outside, well, that was awful.
Even more concerning was that M had started taking a long time to start breathing again after tonic-clonics. Once a seizure ended, he'd just *not breathe* for up to 40 seconds, would take time to resume a rhythmic breathing that didn't sound like ragged gasping, and his blood oxygen levels would take up to ten minutes to stabilize at normal. He ended up being put on oxygen by paramedics twice. I cannot even begin to tell you how shitty it was to be rushing to his school with a FaceTime call open on my phone as his teachers were frantically asking me whether or not they needed to start CPR before EMS arrived.
The thing is, it took me until June to realize that all these things had started after M had started Epidiolex.
I keep a detailed spreadsheet of everything that happens with M. I track any "weird" behavior we notice, unusually frequent absences, what his triggers are, when he has big seizures and how much Diastat he has to have, time of day of seizures, medication changes, diet changes, even moon phase. This is the engineering project manager in me, who loves to maintain good data and be able to look back on it to search for patterns. So in June I started looking back through my data and I realized all of this worsening had happened since adding Epidiolex. I noticed the photosensitivity and absences were worse at the highest doses. I noticed that the apnea was worst at the middling doses. It definitely seemed to be the culprit.
We had previously reduced his dosing in the spring to see if the photosensitivity and absences improved, and they did. But following a tonic-clonic seizure with apnea in June, we went back up in hopes of getting better seizure control again. I hadn't made the connection with the apnea until that point. So we gave it another month, and then I wrote his neurologist an essay explaining why I wanted to get him off the Epidiolex.
I don't know why he hasn't had success on the Epidolex. My theory is that it's because he's not on Onfi, and one of the theories of why CBD helps Dravet is that it enhances the effects of drugs like Onfi that act on GABA receptors... and indeed, most of the kids in the Epidiolex trials were on Onfi at the same time as Epidiolex. There are in fact several papers positing that this is the case. One suggests it's not, so the science isn't settled. But it's my gut feeling that some day if we do go on Onfi, it may be worth trying again.
The only upside we saw to Epidiolex was that at the highest doses, his seizures self-resolved in under 2 minutes. Given that every other tonic-clonic he's had in his life has required at least one dose of rescue Diastat, this was pretty great. But in balance, it's not worth more frequent seizure activity.
We're now down to a low dose twice daily, and debating whether to stay here, reduce down further (maybe to once daily), or come off completely. If there are cognitive benefits, we're loathe to give them up. But it's hard to say.
We feel lucky that his neuro is on board with this and listened to my armchair epileptology. I'm either one of her most annoying patient parents or one of her best ones, and I'm not sure I want to know either way. I'll just feel grateful that we're listened to and that M has such a good team on his side.
In the meantime, we've added Fintepla, which was approved late last year, and it's been a gamechanger. Much more tolerance to playing outside, much better tolerance for sunlight. We've opened up the curtains in our house and it's no longer panic-inducing to see M look out a door on a sunny day. We're very hopeful that we continue to see this work for a while as we find a new post-Epidiolex equilibrium.
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