here is an update:
The short answer is we still don’t know but are trying to figure out what’s going on.
We took Samson to the pediatric ER on Saturday night. Because he was aware and did not seem to have any mental status changes during these spells, they were on the verge of discharging us. However, after the head doctor came in, he had another one and he decided that it was likely a seizure, though a very subtle one. He was admitted and they did a video EEG. They put him on strong anticonvulsants, then started him on a maintenance dose of a third.
Yesterday they did an MRI and a lumbar puncture. They determined that he was having small, focal seizures in two different regions of his brain. He also has slightly elevated cerebrospinal fluid pressure but absolutely no sign of infection in the brain, and a small patch on the MRI that seemed a little bit excitable, which could be the source of at least one of the types of seizures.
Right now, they don’t think this is typical “idopathic” epilepsy because the seizures are originating in two separate spots but not spreading, and because his background brain activity looks great, and also because he has that elevated CSF. Also, because the broad-based seizure suppressant didn’t seem to work at all.
The current potential explanations are an autoimmune attack or inflammation in the brain. However, they won’t know for three weeks whether any antibody tests come back positive. They are also evaluating the possibility that some underlying metabolic disorder is to blame, although that seems unlikely given how quickly symptoms set on.
If it’s an autoimmune attack, they have to make a guess about what type it is. One of the most common ones is NMDA-receptor encephalitis, though Samson’s symptoms don’t quite fit with that. However, the good thing is that there’s a treatment for this type of autoimmune attack – intravenous immunoglobulin and steroids to suppress the immune system, a few months of anti-seizure medications, followed by tapering. The doctors also said that if it is an autoimmune attack, even if they never identify the specific antibody, there are treatments that are similar which seem to work pretty well. Also, this type of problem can be reversible if caught early, which it seems to have been (if this is what it is). There is also another type of autoimmune attack, called GAD65, which is also intriguing because we already know Samson has positive antibodies to that (from his diagnosis with T1D). However, his symptoms don’t fit at all with that. And there may be many other autoimmune disease processes for which there’s no known antibody.
He is still in the hospital. He has an EEG hat glued to his head, which he HATES and which means he can’t really get up, go to the bathroom or change his clothes with ease. The rescue medications that they gave him (ativan and phosphenytoin) made him incredibly disoriented and messed up; he couldn’t tell you his favorite cartoons, couldn’t tell you even the most basic facts about his family, etc. But those are wearing off and he’s getting back to his usual self. He is miserable in the hospital (as any 4-year-old-boy would be) but we are hopeful right now that there’s a way for him to make a full recovery. He was literally doing gymnastics on Saturday morning and was completely fine – had an awesome time, super verbal and chatty, etc. So we are hoping that once he’s adjusted to the anti-seizure medication and completely gotten all the anesthesia, ativan, fosphenytoin, etc. out of his system that the cognitive deficits we’re currently noticing will disappear completely.
Please continue to keep Samson in your prayers – we are praying that they identify the cause, that it’s easily treatable and that he makes a full recovery. AS you can imagine, Mitch and I are beside ourselves with worry. But we’re trying to keep everything normal for Samson as getting back to daily life routines is likely to be the best thing for his recovery.