If you've noticed, things have been pretty lighthearted around here lately. This is what you might call avoidance.
A couple weeks ago, I casually mentioned to KayTar's pediatrician that she doesn't feel the intensity of cold. As in, she doesn't notice if you drop an ice cube in her diaper. Or if you let her have the freezer pack to hold on an owie, she will put in under her shirt on her tummy until you forcefully take it from her. Or you could put your fresh from the fridge soda can on her bare back and she would just smile at you happpily. There is no typical response to cold, no sucking in of breath, no shudder, no wriggling away. She loves it actually and we have to keep her from it, or she doesn't know how long is too long. I just thought it was another sensory quirk to add to the running list of oddities, but it sent the pediatrician in a new direction. Evidently, there are a few different genetic disorders tied to the chromosome where KayTar has a mutation. This new symptom made her look into those again. The neurologist doesn't feel any are a good solid fit, but I think we are re-examining some things. What it boils down to is that the place KayTar has a mutation is connected to various calcium channelopathies, so while it is not a known and studied mutation, it does not mean it is innocent. The calcium channelopathies would look like a Venn diagram if you plotted all the various symptoms...there are many overlaps. So whatever her mutation causes, it would likely have overlaps as well, even though it fitting the known genetic disorders perfectly might not happen. We see both genetics and neurology next week, so hopefully we will have some new information soon.
Also, the pediatrician said that KayTar's drop attacks and involuntary eye movements might be seizures and she is talking to the neurologist about having us do an inpatient prolonged EEG. We still might not be able to catch one in action, but we'd like to try everything we can to get a solid answer. An abnormal EEG is clear cut, but a normal one doesn't mean much at all. So even though we keep getting clear ones, it doesn't rule seizures out. Dandy, right?
In regards to yesterday, here is the long and drawn out version. We drove in from out of town late morning/early afternoon. Once we got home, KayTar napped and post-nap we went out shopping (for a rock polisher, oooh!) and to get BubTar's haircut. When we arrived at the first store, KayTar was painfully light sensitive in the parking lot. Once we were indoors she was fine and when leaving the store, the sun did not bother her. From there, we went to the toy store for a haircut and the continued search for the elusive rock polisher. She was still fine. She was enjoying herself walking around the store and took a ride on the little fire engine in front of the store. We got in the car and drove to yet another store to find a rock polisher. As Josh was unloading her, he called me over. Something was going on. He rebuckled her, I rebuckled BubTar, and we headed home. Her eyes were darting all over and she was holding Josh's baseball cap over her head and crying. Eventually she gave up on the hat helping her and threw it down. Her eyes were bouncing up and down and all around while in the car, she was alternating between covering and rubbing them and leaving them alone. When we were minutes from home, she just stopped fussing. Her eyes were closed and she said, "What color?" so I said "What color?" and she started naming colors, and prompting me to ask again. I don't know if it might have had anything to do with an aura, because a two year old isn't a great source...but it was a distinct change in her behavior and its not typical for her to play "What color?" with closed eyes. Maybe it means something. I guess we can't know for sure.
Once we got home, she was continuing to have strange random eye movements. They would flick, roll, twitch, jerk, misalign with the other. It was strange. She was aware of it happening, because she would rub them or hold them closed at times. We were in a room with windows, and the sunlight was not bothering her. She cried some, but didn't seem to be in much pain. The eyes twitching about was the strangest part. She was aware at times, other times not responsive at all. After about an hour, she threw up. After that she wanted to be in the dark. I'm guessing that the movements of her eyes made her nauseas and that once we were in the complete dark (literally, closed into the hallway where there are no windows) the motion was easier to handle. She couldn't see the world jerking to and fro. The eye movements were not non-stop, but they happened on and off throughout and were the most prominent feature. At 8:30 she fell asleep and woke at about 9pm completely herself again.
What was it? Who knows. I sent the pediatrician a video and she doesn't think it is seizures, but we can't know for sure. She said it could still be related to migraine, although the eye movements are not characteristic of migraines with her genetic mutation it could all be connected. She's sending the video along to the neurologist to get his take on it. I'm feeling confused and a little frustrated. All of the recent abnormal activity has focused in her eyes, I am concerned we are missing something happening in her brain that is causing all of this. I don't want to write it off as part of the migraine syndrome when we don't really know what is happening. It was different than a typical episode, although similar in some ways. Maybe an evolution of some sort, but if so, I want to know why it is happening. I'm ready for some answers, even a few. Something concrete to go on. Anything more than an educated guess.
Oh, and because the last two have happened on days we've arrived in from vacations, chances are the stress of being away from home is too much for her body and it is triggering these reactions in her. So, no more vacations for for an indeterminate amount of time. It just isn't worth it if it causes her all of this pain and distress.
I think I have purged all the information that has been rattling around in my brain for the last week or two. Here's hoping that next week brings us some answers, because we are all feeling a bit like this: