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:
I noticed. And wondered. But hoped that it was just because you were all feeling lighthearted. I'm sorry to hear that it wasn't so.
I can't fathom your frustration at just not knowing. That must be so difficult, and I feel so sad for KayTar. It must be so hard to have your eyes moving involuntarily and not having any control over it.
Stay strong and keep writing. I hope it helps to do so.
Oh, man. I wish there were some clear-cut answers. It must be so difficult not to have them yet.
And I'm sorry for the wee one who has to experience these episodes that must be really frightening.
Thinking of you.
Oh. Baby girl..I had these kinds of episodes (with the migraines) when I was a wee one also. Poor thing.
The not knowing is definitely the worst. My only reassurance is that you live close to one of the best hospitals and have some of the best doctors in the country. I pray they will start getting answers for you soon!
oh babe. oh, babe. i would be climbing the walls. keep letting us know how we can support you.
My goodness. Your family has more than it's fair share of stuff to deal with. I hope you get the answers that you need soon.
"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."
We're at 7 years and counting. We too have made the same correlation. Ben has not been back to his "baseline" since we returned from the beach over two weeks ago. I would really hope you and Josh reconsider your options about vacationing. Despite the problems traveling can produce the family still needs those adventures.
BTW, Ben has a similar anomaly in that you can place cold (or hot) objects on or near his skin and he will have a VERY delayed reaction...most of the time. It's almost like the "switch" to turn the reaction gets flipped a few seconds later, a minute later, or not at all.
The more I'm learning about Kaytar the more I'm convinced she has a mild genetic abnormality.
Kyla. (HUGS) Poor little KayTar. And (HUGS) for mommy, daddy and brother of KayTar. The thing about symotoms is you hate for there to be one more, and yet, it could be the puzzle piece. Sigh. If it is the calcium channelopathies chromosome mutation...do they know much? Can they do anything? Keep writng. Happy. Sad. In control. Out of control. We're here. We need no particular face other than you.
I'm so anxious (okay, probably not as anxious as you) to hear what the neuro says. It's really great that you can video some of it so even if they don't get an EEG they still might have the video to refer to.
I hope you get some real answers soon, Kyla. Sorry you're making yourselves homebound for awhile. I would too.
Oh, if only those darn answers would come...praying they do one day soon.
Poor KayTar...and poor all of you. The frustration of not knowing what's causing these 'seizures'j and trying to make her comfortable in the interim when they strike must be immense.
Although I'm glad you've been able to remain lighthearted... I hope you keep writing about the 'other side', too. It must help to be able to talk/write about it.
Oh Kaytar! That poor little girl. How hard this must all be for her to understand, feel.
and how hard it must be for her mamma who love her so.
Hope some answers come to you soon.
Sorry to read about KayTar's post-vacation troubles. I hope you get some answers soon.
I'm thinking of you.
p.s. totally off topic here but I just awarded you an award over at my site. You can get the button from my post if you'd like.
I did notice and I hoped it was because everything was going really well.
And, um, I tagged you on Saturday morning but didn't have time to notify you. No pressure though.
Um, I tagged you too. I guess CG got to you first.
Oh goodness... your photo captures it perfectly... I feel queezy already. (Off to sit in a dark room.) Feel better soon Kyla!
So, I find myself plagued with inane curiousities to your situation as there's a few key points that identify in mine. But it's a bit weird for someone to come out of the blue like this. So I'll keep it down to a shorter inanity. I am nearly 30 and I've been going through this as far back as I can remember. There doesn't seem to be too much help for the "orphaned" genetic anomalies. Most of my childhood treatments were akin to cases of mild autism From the reaching depths of the neurological community to the somatic experiences within psychiatry. I've been on everything under the pale moon and eventually wound up in more alternative lands.
I can only speak about my experience but I found beta blockers helped to an extent not by much but more than anything else did, pressure point massage which we came across early in my childhood with the treatment plans involved in mild cases of autism - which although there were few lines to corelate with a diagnosis it was the only treatment plan out of even a guess they would prescribe. - I don't completely understand why but some physical stimulation lessens and draws me out of the episodes, - acupuncture is another route but it's a little scary when you're young and going on into adulthood I am a little cynical about it's effectiveness but that's where I've gone with most treatments - the more open-minded alternatives because my doctors really don't know - finding the differences_the answer or the perceived cause still comes with guess work on what the appropiate treatment is. So then comes psycho-somatic air to it. If you can't treat it, then try to be as comfortable as you can with it. Meditation helps. I feel a bit of a vulcan and I am so not a trekkie/trekker, but maintaining mental and emotional control has become a fundamental. And meditation - it's sometimes more difficult with children, but making up quiet and stillness games, and having an emergency mellow pack - some juice, a light snack, favorite music, dark shades and a blanket, significant item or stuffed animal to grip on for life and comfort -- which as silly as it is for a near 30 year old guy to have, has helped me significantly with trying to get back to center and maintain some control over this situation.
My mum had a difficult and frustrating time with it as well. She was in the medical field and spent far too much of her free time scouring the libraries for a definitive. And even now she still doesn't accept that sometimes we just don't know. I am just saying that some times it's better to put on the back burner for a while. And you shouldn't put guilt in doing that. And with a bit of a halmark sentiment, just spending as much time and making the episodes go by as less traumatic as possible. It's the best gift you can give even when you're feeling helpless in the situation. It's a frustrating game of figuring out what works and still holding out for a treatment as much of an answer.
I was hoping that all was going well, and I hope writing this makes you feel a little less loaded. I really wish that you knew exactly what is going on, that an answer will present itself. I'm not sure I could be anywhere near as focused as you are being a parent. You are one strong person and family.
Post a Comment