Tired Mira

Mira was droopy and tired all day long today. The report back from school was that when she wasn't napping, she was slouching and very tired for most of the day. This morning, she didn't seem all that interested in her toy and certainly didn't want to drink anything. She did a lot of staring off into space and not moving much at all. We ended up tilting her chair back before the bus arrived and she took a cat nap before the day even started for her. All of the heavy seizures yesterday must have caught up with her today. After dinner, we were able to get a few smiles out of her, but she soon drifted back into slumberville - she ended up going to bed at her usual time, not counting the head start she got in her chair.

Bad Seizure Day

Mira had three big seizures today - one right when she got out of bed, another right after lunch, and a third one right before dinner. All three of them were pretty intense, tonic-clonic seizures and each one lasted about 45 seconds. Obviously, she has been out of it all day because of them.

The first two seizures were completely random, but the one she had late this afternoon, could have been triggered by her toy. Either way, she had a rough day with all of this activity. She was very lethargic before bed, not able to even keep her head up. Poor kid - I hope tomorrow is a better day for her.

Crabby Morning

Mira was not a happy camper this morning. She didn't have a ton of myoclonic seizures, but something sure was making her irritable. She was fine for the first 20 minutes or so in her chair waiting for the bus, but then she ramped it up and was kicking mad, literally kicking her bottom footrests on her chair so hard I thought they were going to snap off. She stayed that way until the bus arrived and from the sound of it, the ride to school didn't help her demeanor much. She continued to have an up and down day at school.

This afternoon, again, not much in the way of seizures, but she continued to be off and on fussy. We rushed through dinner and took her out to the park, which seemed to break the cycle. She spent a little time in the swing and we walked around the park for another half-hour. That wore her out before bed and she went right to sleep.

We are still going back and forth with GeneDx on Mira's CEP (Comprehensive Epilepsy Panel) but can't seem to get an update from them with insurance. We will try again mid-week.

Up + Down, All Day Long

Mira was all over the map today. She had periods of full-on belly laughing, mixed with extreme fussiness. She woke up this morning and had a really intense seizure, which of course knocked her out for a good hour. After that, we didn't see much seizure activity, the rest of the day. Then the ride began................

Most of her afternoon was spent on the roller coaster of moodiness - she was up and down for the remainder of the day. She had an enormous appetite, drinking a number of bottles, sometimes giggling in between them. When it came time for a bath after dinner, Mira ramped up the fussiness to maximum volume. She cried through the entire time, from shampoo to dry and everywhere in between. You would think she would have exhausted from the 45 minutes of fussing, but she was still ready for more. Back in her chair, she drank another few bottles and had a long stretch with her toy, shifting gears and began giggling at times again.

Up and down. Laughing and fussing. Just another day for Mira.

This Week

To say that this has been a long week would be a tremendous understatement. Mira started off the week really well - full of energy and for the most part, happy. She has been having some positive days at school - attentive and reaching out for things, etc. which is fantastic to hear.

The middle of the week was hectic, as Sarah and I drove to St. Louis for my father's funeral. My Dad had been struggling with heart issues for the past few months in the ICU, so it wasn't completely unexpected, but nonetheless, it is always difficult to lose a parent. Through all of the sadness, it was nice to hear stories about him that I had never heard before and discover some of his accomplishments that he had always been so modest about. It was all emotionally exhausting, as funerals always are. Needless to say, we didn't bring any of the kids with us, as it would have made the trip entirely too stressful.

Mira had an uneventful couple of days while we were gone and was in very good hands. She ended up having a fairly late evening last night, while we made our way back to Kansas City. Mira got to spend a lot of time in the car back and forth, which she typically enjoys. Maybe not so much yesterday, as we were told she was pretty irritable toward the end of the drive. She must have been worn out and just wanted to be in bed after all of the day's activities.

A huge thank you to Tisha, who spent her two days off this week taking awesome care of and shuttling our kids (as well as her three kids) around while we were in St. Louis - we are so, so grateful!

Feeling Much Better

Most of Mira's congestion cleared up last night and she woke up snot-free, for lack of a better term. Her sinus pressure seems to be gone and you can tell she is feeling better overall. She didn't have much of an appetite this morning, but then again, she had a lot to eat before bed. She had much more energy today, along with some fussy spells, but they didn't last long.

After dinner, she was very enthusiastic with her toy (with no seizures) and just like last night, polished off three bottles in no time flat. We went to the park afterwards and got her in the swing for a bit. She reacted very positive to it and enjoyed the movement. It was the most energy I have seen her have in the swing in quite a while. We walked around the park after the swing and she crashed hard once she was in bed.

Less Congestion + Less Sleepy

Mira was somewhat improved today - she woke up with a little less congestion and was in a decent mood this morning, despite having a bunch of myoclonics with her toy. She mustered through a bottle for breakfast, even with all of the sinus pressure and congestion. Being upright in her chair seemed to help some.

She had a positive day at school, with a minimal amount of sinus issues and ironically, no seizures. She didn't have any head drops or any seizure activity this afternoon either, which is great. Mira had some quality time with her toy on a couple of occasions - before and after dinner. She had quite the appetite, drinking three bottles in a row.

We are trying some a new protein powder mix with her and she drank it right down, so I guess she approves. It's gluten free, soy free, and dairy free, yet has the same amount of protein and calories that she needs to maintain her weight.

Sleep + Congestion

Mira had another lethargic day today and it became very clear this morning as to why she has been sleeping so much - she is congested. It's either allergies or a virus, but either way, Mira is having a lot of sinus congestion. She hasn't been running a fever, but with all of the discharge and nasal issues, I am sure it is causing her some discomfort.

She was up at the usual time this morning, but ironically, she didn't have any seizures. In fact, I really didn't see any all day today. We have noticed that sometimes when Mira comes down with something like this, she actually tends to have less seizures. It's weird and could just be my imagination, but I didn't see any myoclonics all day and certainly not any big seizures.

She took a really long nap this morning and just like yesterday, finally woke up around lunch time. She drank quite a bit and went back to bed for another nap.  She was off and on asleep for most of the afternoon. She absolutely hated getting a bath tonight, crying before, during, and after. At least her toy made her happy before bed and she was able to play with it uninterrupted for about a half hour or so. Hopefully her congestion won't stick around long.

Sleepy, Lazy Day

Mira had a very sleepy day, which isn't surprising after she had two intense seizures yesterday - one in the morning and one in the afternoon. Both of them completely drained her and I think much of that exhaustion spilled over to today.

It rained here off and on all day, which added to the sleepiness for everyone here, especially Mira. She woke up later than usual and as soon as I got her in her chair, she started having some intense myoclonics, so we avoided the toy altogether this morning. She quickly drank two bottles and wanted right back in bed. From there, she slept off and on for 3 or 4 hours. She was quiet as could be and we ended up waking her up for a late lunch. Again, she started having heavy myoclonics in her chair, so we had to remove her toy. She dozed off and on in her chair and then became fussy right before dinner. She drank and ate a lot for dinner and we tried the toy once again. This time, she didn't have any drops and ended up playing for over an hour, before wearing herself out before bedtime.

At this point, her toy really seems to be a big trigger for her and I'm really not sure what to do. It's terrible for Mira because she really loves to play with it, but her seizure activity goes through the roof lately when it's in front of her. It doesn't seem to matter what time of day or her mood either - it just sets her off.

We sent in the paper work to GeneDx to see if we can get any sort of break on Mira's comprehensive epilepsy panel, since our insurance denied coverage. I am not optimistic that GeneDx will come back with a reasonable out-of-pocket cost for us, but we will keep following through with it.

A Positive Day

Mira had a much improved day from yesterday. She had a brief fussy spell this morning, but putting her back in her bed for a few minutes resolved that pretty quickly. She had a great day at school - full of energy and smiles all day long. She didn't care for her Kid-Walk too much, but overall a very positive day.

She had a number of myoclonics throughout the day, mainly with her toy again. Thankfully, none of them progressed into anything more. We were keeping a close eye on her every time we out the toy in front of her. She had a long stretch playing with it after dinner and ended up staying up about an hour past her usual bedtime. Once she was in bed, she let out a few giggles before falling asleep.

Ready for Bed

Mira was up and down this morning - she was able to get some quality time with her toy, without having any significant seizure activity. Ironically she tired of her toy pretty quickly and was fussy after that. I'm not sure how the bus ride went overall, but she was certainly not happy as she was getting on to go to school.

She had a decent day at school - happy and attentive, but this afternoon, she continued to be irritable. She took the crankiness to a whole other level during her bath, which was exhausting for everyone. Mira had a little more time with her toy and again tired of it after a few minutes. I think she was just ready for bed, because within 5 minutes of being out of her chair, she was as happy as can be and immediately after, fell fast asleep.

Despite the irritability, Mira didn't have any big seizures, which was great, although it feels like alternating days between heavy seizures or crankiness. Today was definitely a fussy day for her.

A Break from the Toy?

Mira continues to have these involved seizures every time she gets in front of her toy. It's terrible because she really wants to play with it and gets upset when she is waiting for it. Yet, it really is becoming an issue with her this past week. We are going to have to find something else to try and capture her interest.

We went outside after dinner and walked around the park. Mira really enjoyed the movement and the cool air. We got into the swing briefly, but she just wasn't feeling it again today. I'm not exactly sure what is going on with her over the past week, but she has been very quiet and reserved. She has her fussy moments here and there, but she is definitely not herself these days. Her appetite is strong, but overall, Mira is lethargic and inactive. We aren't sure whether the seizures are just taking a toll on her or if she is just in a funk.

So Serious

Mira only had one big tonic-clonic seizure today, which I suppose is an improvement from yesterday. She had a bunch of episodes that were basically myoclonics, one of which this morning turned into a full blown seizure. We kept a close eye on her all day, especially when she was in front of her toy. The trigger for her this morning and all day yesterday was of course, her toy - she was having a lot of similar episodes as before, so we tried to keep her playing to a minimum. We took a long break from it the rest of the day.

I think the separation from her primary source of entertainment made Mira angry. We finally relented this afternoon and let her play with it and she definitely made up for lost time. She played for about an hour straight and a couple of times, she would stop, turn her head, having this completely serious face, as though she was still pouting for not having her toy for so long. Mira looked mad.

After dinner, she had a bath, and was quiet afterwards. We then gave her a little more time with her toy, which was uneventful from a seizure standpoint. No frowns from Mira either - hopefully she isn't going to hold a grudge tomorrow.

Trigger Toy

Mira has been having a ton of seizures today. All of them have happened the same exact way too, from interacting with her toy. Mira has days where she will play with her toy for 45 minutes straight, without so much as a twitch. Other days, like today, playing with her toy will cause her to erupt into a huge tonic-clonic seizure.

She ended up having three really intense seizures, each one within a minute or so of sitting in front of her toy. She started each one by having some small myoclonics, then a more intense one that unfolds into a much bigger episode. Each time, we immediately take the toy away, but by then, it's too late. She is overwhelmed and the seizure is already taken over. We had hoped that this morning was just a fluke with her toy, but it turned out to be what set her off every time.

It's terrible because her toy is the one thing she loves to play with and unfortunately, it's been the trigger. Despite the seizures, she has been in a pleasant mood most of the day. We were able to get out to the park and into the swing, but Mira was very lethargic and not really enjoying it much.

More Big Seizures

Mira continues to be fairly quiet and reserved these days, for a reason. She woke up this morning and had a big tonic-clonic seizure right when I put her into her chair. Not a great way to start off the day. Despite the seizure, she was apparently all smiles at school this morning, up until about lunch time. She was very sleepy this afternoon and wasn't too happy about getting in her walker at school.

This afternoon, she took a nap and woke up a little fussy, which ironically, led into another big tonic-clonic before dinner. She then had yet another one after her bath. I'm not sure what the trigger (if any) was for her, but it felt like her toy wasn't helping, so we had to keep it from her after the second seizure. The obvious reason for her quiet demeanor the past few days is all of the seizure activity and spending much of her day in a postictal state.

She was completely worn out after today, not wanting to eat much before bed.

Quiet

After having a string of tonic-clonic days, Mira has been fairly quiet the past two days, at least on the seizure front. She wakes up having a fair amount of myoclonics in the morning, but not a whole lot of seizure activity the rest of the day.

Monday morning, Mira made it very clear that she did not want to get out of bed. I let her sleep in as long as I could before the bus arrived, but she still wanted nothing to do with being in her chair. She was fuming mad, so after a couple of minutes getting her ready, she made it vocally clear that she just wanted to keep resting. I even gave her a bottle while she was in bed. She finally came around, right before the bus pulled up and the feedback we got from school was that she ended up having a pretty smooth day.

Today was similar, minus the morning theatrics before breakfast. She again had an uneventful day at school. Not a whole lot of seizure activity this afternoon, but she did end up going to bed a little earlier than usual because she was droopy and tired.

Still waiting on some feedback from the neurology clinic on the comprehensive epilepsy panel paperwork. It is always a long process.

Consistent Tonic-Clonics

Mira has been having a consistent number of intense tonic-clonic seizures for the past 3 days. Friday she had one, another 2 on Saturday and then one already this morning. Overall, it is a pretty constant cycle - a couple days off with none, then 3 or 4 days of having at least one a day. Before and after the seizure, her hands and feet are very clammy, yet cold at the same time.

She woke up this morning having only a few myoclonics in her bed, but with her cold and damp feet, it seemed inevitable that she was going to have some sort of intense seizure. Sure enough, after about 15 minutes of being up, she had a myoclonic that slowly unfolded into one.

Yesterday we were out and about, running some errands, which Mira seemed to enjoy. We also went to the park and were able to get in the swing late in the afternoon, but Mira was very drowsy and not feeling up for it. We went back inside and she had another big tonic-clonic.

I can't wait to open the windows and air out the house, since it supposed to be in the upper 60's this afternoon. It feels as though with the stomach viruses floating around for the past two weeks and not wanting to completely vacate, perhaps airing and forcing it out (psychologically if anything) will do some good.

Hope everyone has a nice Easter!

Paperwork and Seizures

We followed up today on the paperwork necessary to try and appeal insurance for Mira's denied CMP (Comprehensive Epilepsy Panel) screen through the company that does the actual testing. It takes a lot of shuffling paperwork through neurology, the testing company, and of course, us. I am not optimistic that anything will come out of this, as insurance tends to dig in their heels when it comes to genetic testing and stated plan benefits. It certainly doesn't hurt to try. We will keep following up until we hear a decision.

Mira had a decent morning and a good day at school, but a rough afternoon. She had a huge seizure about 5:00pm, right when we put her in her chair. It was very random. She was playing happily with her toy for a minute and she just broke right into a big TC. The epilepsy roller coaster always has its ups and downs - after having a few really good days, she tends to follow up with a few bad ones.

Neurology Appointment

Generally speaking, we have a neurology appointment about every six months for Mira. This is an actual meeting in clinic, with her current neurologist, to go over Mira's current medications, seizure control, etc. Ironically, we tend to spend about at least 5-7 times as long in the waiting room and exam room, than we do actually meeting with her neurologist. Of course, we keep in contact with the clinic via email and phone calls between appointments, but the one-on-one face time is extremely limited.

The entire appointment process took about 90 minutes total, yet the actual amount of time we spent talking directly with the neurologist was around 10 minutes. That's not to say we don't like and appreciate her neurologist and the clinic staff, but rather it is a reflection of how understaffed and overbooked the clinic is, regardless of the time of the day, month, or year.

I know I have said this in the past, but my theory of gearing up for a neurology appointment is always a gamble. After almost 10 years of being seen in clinic, I have slowly learned to change my expectations, because frankly, one really shouldn't have an expectation to begin with. Yesterday's meeting was no exception. We were thrown for a loop, again, which is par or the course.

Sarah and I collectively agreed that we did not want to change Mira's medications. We feel that after riding the medication roller coaster with Lyrica, Onfi, and Vimpat at the end of 2014, we had met our drama quota for everybody for the year. The Lyrica wean was an utter disaster and we have finally reached a stable plateau with seizures, irritability, and life. Her seizures are not completely controlled - they never have been and the feeling is at this point, they never will be. This may be as good as it gets.

The medication conversation went smoothly. We then briefly discussed MTHFR, which is methylenetetrahydofolate deficiency. The reason I brought this back up (see 2007 entry and 2014 entry) was because Sarah had recently tested positive for the mutations of both the C677T and A1298C variants of MTHFR. While both of these mutations are fairly common in people without epilepsy (ranges of 20-40% of the population actually has at least one of these mutations) it is quite certain that Mira has at least one if not both of these as well. In rare cases, some of these mutations have a profound effect on MTHFR processing and levels, which lead to severe neurological complications. It is a possibility and it would be good to know this. 

That lead to the first kicker in the conversation with Mira's neurologist yesterday, which is that we will probably never know if this is a possibility. We cannot have Mira tested for this because insurance is refusing to pay for it and of course, we cannot afford the $3,000+ cost of the out-of-pocket testing for this CMP (Comprehensive Epilepsy Panel). The  second kicker was when her neurologist told us that his role within the hospital was changing and that he would no longer be able to see Mira in clinic, since he is dropping about 75% of his patients. The patients he will keep however, are patients that have a confirmed genetically defined reason for their epileptic condition. It comes down to this: he will keep her as a patient, if and only if she has a confirmed genetic condition.

They are also running a separate exome study within the clinic, which Mira is not a candidate for, since they will not even look at her file until she has the CMP done first. So, either pay out of pocket for the panel in the hopes that they discover one of these 70 different mutations, in the hope (not a guarantee) that she will be allowed into the exome study, in the even remote hope that she will continue to be a patient of her current neurologist. Needless to say, this basically means that we will be cast back into the pool of neurologists and have to get acquainted with a completely new doctor.

Just when we feel like we are getting comfortable with someone in clinic (after 3-4 years) the tables have turned upside down again and we have to re-educate someone new. I don't say that to be pompous or conceited, but rather because Sarah and I know Mira better than anyone. To have to sit down with someone completely new who has never met her, is always a tedious exercise. I am too exhausted to go through this again with someone else in clinic and the very thought of it wears me out.