Monday, August 22, 2016

Well...........That Was Brief

After Mira's miraculous turnaround last week, she had an incredibly irritable weekend. As quickly as her mood shifted 180 degrees, she spun back around and was right back where she was before. I have no idea what to do sometimes and it feels like everything I try to do to and help, is just one gigantic fail. As soon as I open my mouth, I think i jinx her positive streak. We have so few options these days and it seems nothing helps for an extended period for her. She just has good days and bad - lately is has been a lot of very fussy days, minus the 4 or 5 day stretch we had last week. She was having all sorts of lightning jerks all weekend - no major seizures, but certainly small seizures rising to the surface and causing issues with her. She was fussy this morning before the bus arrived, but apparently at school, she has a decent day. She had a big tonic-clonic this morning, which didn't completely wipe her out, but her teacher said it was definitely an intense seizure. We will keep on the pyridoxine for now and keep riding the roller coaster. It seemed to help break the cycle, albeit very briefly.

Thursday, August 18, 2016

Complete Turnaround - Thanks Pyridoxine!

Mira has been doing unbelievably better these past 4 or 5 days and I suppose we owe it all to pyridoxine. She had been having such a miserable time over the past 2 weeks, that we had to try something different, if for no other reason that to break the irritability cycle she was lodged in. As history has shown, Mira always seems to respond well to higher level dosages of pyridoxine, particularly in the 15-20mg/kg range. I have had many theories about her being pyridoxine dependent (too many to count) but I can assure you, at an absolute minimum, she is pyridoxine responsive. Regardless of how, what, why, and for how long B6 works for her, I am convinced it does work for her, in some capacity. Even if she has never tested positive for the ALDH7A1 gene, you will have a hard time convincing me, after this past week, that she doesn't have some sort of genetic, molecular, mitochondrial, and/or enzymatic dysfunction that responds to pyridoxine. Her turnaround since giving her the equivalent of 20mg/kg, has been nothing but miraculous. I have not witnessed (although others have) her fuss, whimper, or cry for the last 5 days. Instead, I personally have heard nothing but vocalizing, dragon noises, and overall, utter happiness. She also has not had a major tonic-clonic for quite a while. She did have some brief myoclonics in her bed yesterday afternoon, but that has been about it. I don't care if this is short-lived or not - right now, Mira is very happy, doing well at school, and has had a minimal amount of seizures all this week. The driver and para on the bus said she was crying her eyes out yesterday on the ride home, constantly pulling on her chest piece in the process. The second Sarah got her in the house and out of her chair, she immediately stopped crying and was happy as can be. That to me is a sign of expression - her wanting something by communicating, rather than just crying non-stop, with every effort on our part, being an exercise in futility and frustration. The repeated chest piece grabbing is something new. She also has been clutching at her legs, chewing on her blanket, and consistently vocalizing every single day since starting at the this higher dosage. She had been on a dosage of roughly 8mg/kg since we tapered down last September, after being on a higher dosage last summer. We saw amazing results for a few weeks last year, but it slowly faded out within a matter of a few months, as she fell into her old patterns of heavy seizures and high irritability. I'm fully prepared to ride this out indefinitely, knowing there are 2 variables that differ from last year, that may or may not have an impact on her recent success. First of all, she is on a higher dosage of fluoxetine (we raised it several weeks ago, due to irritability) and second, she no longer has her toy, which was an enormous seizure trigger. So, the pyridoxine journey continues and we will again, take it day by day.

Saturday, August 13, 2016

First Day of School

Things really started to final shift for Mira on Thursday, where she wasn't as irritable. Typically when her mood starts to shift like it did so abruptly, we expect some heavy seizures and/or some neurological flux to follow soon thereafter. Sure enough, Mira woke up Friday morning and was clammy and rigid. She wasn't having any seizures per se, but she was definitely altered - one of her episodes of dystonia and rigidity. The unfortunate part was it was the first day of school. It was strange for both Jonah and Mira to start school on a Friday (granted it was only a half-day) but I stopped questioning the districts choices when it comes to school schedules. We decided to send her off to school, since she wasn't having myoclonics or anything, we figured she was simply going to be lethargic, which was exactly what happened. Her teacher said she was very quiet and subdued - not fussy, just tired. She remained in that state for the rest of the afternoon at home. By the time this morning rolled around, any symptoms of her dystonia has disappeared and she was in good spirits for the entire day. Such a nice change of pace for her, after a solid stretch of nearly constant crying, fussy, and restlessness. Jonah was all smiles starting school yesterday - he was very excited to get to walk to the farthest classroom at the every end of the school. He gets to experience all the other classrooms, the library, the music room, and the art room, all before getting to his room - such a journey every morning for him. Eli had his teacher for kindergarten years ago, the only change is that Jonah has her for second grade. On Monday, Eli starts, so finally, all three kids will be in school - Sarah will probably collapse on the floor in complete exhaustion, while either doing celebratory snow angels on the hardwoods, or simply enjoying the silence for bit. She deserves a serious break.

Wednesday, August 10, 2016

What is Going On Lately?

These were the only two images we could get of Mira this afternoon, when she wasn't crying. Her mornings have been relatively decent, but her afternoons have been horrible. She has been extremely irritable this week, around the same time every day - today she was literally screaming, with tears running down her cheeks, fogging up her glasses in the process. We have no idea what is provoking this, but it certainly has escalated this past week. Coincidentally, she has been having dry diapers in the morning - one today and one on Monday. Last time this happened, we ended up taking her in to the pediatrician's office, because she had a UTI. I hope this isn't the case. Fortunately, she has had wet diapers (and soiled ones) the rest of the day, but we have no idea why she is holding it through the night. Constipation certainly isn't the issue either, as things are moving along in that category. I'm not sure if her extreme irritability and the dry diapers are related. It's always a guessing game, as she obviously cannot communicate with us, other than through crying.

Sunday, August 7, 2016

Doing Better

Mira's irritability tapered off somewhat toward the end of last week and into the weekend. Ironically, we have some construction going on at the house - we are having all of the original windows, front door, and garage door replaced, so there has been a fair amount of noise happening during the day. Typically, Mira isn't too keen on loud noises, yet with all of the banging, nail guns, and sawing, she seems to be taking it all in stride. They won't be finished installing for at least another week to ten days, so hopefully her patience will continue while they continue to work. This is Mira's last week of summer vacation, so I am sure she is also anxious to get back into a school rhythm. Her myoclonic clusters subsided for a few days, but she started having them again this afternoon. Overall, she has been in a fairly decent mood this weekend, but did become irritable right before all of the seizure activity started. We only say one near tonic-clonic over the past 4-5 days, when we were out walking on Friday, she slouched forward and became very rigid, but the seizure didn't fully evolve into a TC.

Thursday, August 4, 2016

Unhappy Mira

This has been another rough week for Mira. She continues to have these random clustered myoclonic episodes throughout the day, every day this week. I think all of this neurological activity is going hand in hand with her irritability. Every morning so far this week, she has woken up in a foul mood, crying and fussing until she is distracted by something - a bottle, a change in scenery, a nap, or sadly, more seizures. The cycle of seizures and fussiness, with a few random moments of quiet, is taking its toll on everyone here in the house these past few weeks.We called neurology on Monday about the uptick in her irritability and the recommendation was to increase her dosage of fluoxetine, which we started on Tuesday. It may take several weeks for it to take effect and for her to show any potential reaction to the increase, so we are being patient for now. This has been the most exhausting summer, on so many fronts, and I am so ready for it to be over.

Sunday, July 31, 2016

Myoclonic Clusters

Mira has been having an increasing amount of myoclonic clusters, at all times of the day. When I went to get her out of bed this morning, she started having a series of episodes - curled toes, eye deviations, rigidity, etc. Her breathing is never altered or anything, but it's all seizure activity nonetheless. She had one of these episodes in the middle of the afternoon yesterday, and again the day before. There never seems to be any pattern to it, as with most of her seizure activity in general.

Friday, July 29, 2016

Both Ends of the Spectrum

Mira spent the beginning of the week being in a very cranky mood - she was super irritable during the day on Tuesday and Wednesday, with nothing making her happy. Things have lightened up quite a bit since then, capping the week with Mira laughing and giggling today. We experienced both ends of the spectrum this week. She has been in a great mood today, maybe due to the fact that we have been doing serious amount of walking, all of it in the house. Walking around kept her smiling, so long as we were in a constant state of motion. I think we ultimately wore her out - she is in bed snoring right now.

On another note, my back did not improve after this weekend, in fact, the pain became unbearable, Sarah took me into the ER Monday afternoon, to see if there was something else going on. I scheduled an appointment with my PCP for Tuesday, but the pain was so bad I needed to try and manage it sooner, thus a visit to ER was warranted. They gave me some painkillers, which helped enough for me to get to my doctor the following morning and I was able to get a little sleep. After a steroid injection, a muscle relaxer injection, x-rays, and some additional stronger pain meds, things are feeling much better. I am still very sore, but at least the pain is manageable. I have had this happen before, just from transferring Mira, but had never experienced pain quite like I did earlier this week. As Mira is getting heavier and taller, I need to be more cognizant of how exactly I am picking her up, Transferring her chair into the van is typically what causes one to bend into an awkward position - her chair weighs a ton and is extremely difficult to get into the van with just one person.

Sunday, July 24, 2016


If there is one positive attribute with Mira's episodes (her most recent one last Wednesday - see the post before this one) is that they typically never last more than 24 hours. This latest one was no exception. By the time we put her to bed Wednesday evening, she had already been slowly coming around a bit beforehand and by the morning, she was back to baseline. Her fussiness and irritability has subsided over the weekend, with a minimal amount of seizure activity since. However, randomly this afternoon, she was laying in her bed and started having a series of strong myoclonics, one about every 15 seconds and the pattern went on for about 45 minutes. This is also not an uncommon occurrence these days. Rarely do they happen in the middle of the afternoon, but today they did - typically she has these right after waking up. I suppose today has been a different day in general for her - after having a couple solid weeks of irritability, she was very quiet and content all day today. She did spend a fair amount of time in her bed just chilling out, only getting up to race around the house and to have something to drink. She has loved racing around today (it was miserably hot today (hitting 98 degrees, so going outside for a walk was not an option) even if it was just around the house - she never seemed to tire from it and the only reason we stopped was because it was actually wearing me out. Sarah and I have been taking turns transferring her, as I again strained my lower back, either from transferring her chair into the van yesterday or from sitting awkwardly on the couch, hunched over my computer - not sure which. Either way, today I have had some serious pain that no amount of Advil seems to combat. This happened a few months ago and it look almost 2 weeks to fully get over it.

Wednesday, July 20, 2016

Very Rough Day

Mira had a really rough day today. I went to wake her up this morning and it was obvious that she had just had an intense seizure. She was laying in bed in a sort of post-ictal position, one that is reminiscent of the aftermath of one of her involved tonic-clonic seizures. Her arms were stretched outward and she was still having some small spasms with her arms. Her back was completely soaked and she was staring at the ceiling. I can tell it had just happened, at least within the past 10 minutes. Unfortunately, it is not uncommon for her to have a seizure when waking up, but it is always disconcerting nonetheless. I got her changed, dressed, and in her chair, but based on her expression, you could tell this was potentially going to be an off day for her. It's sometimes difficult to tell immediately after a seizure, so we decided to send her off to school, keeping in mind that with limited summer hours, she was only going to be gone for a portion of the morning.

Sending her off to school was probably not the best decision and I should have read the signs better, as she had another big seizure on the bus. The driver and para told her teacher, who in turn told us. Her day didn't improve much after that, as she was off the entire morning and was having a ton of twitches and jerks at school, throughout most of the morning. We could barely get 1/3 of a bottle in her before her bus arrived, which was red flag that things were not going to go well - Sarah couldn't get her to drink anything the rest of the day. She was either completely rigid or very lethargic, or both, the entire day. We finally managed to get her to drink a full bottle at about 7:00 this evening, which took her about 20 minutes to actually finish. You can tell from the pics above, that her arms were tense, her feet extended and crossed, and she was very clammy - her temperature was completely off. She was extremely quiet and altered, not responding to much of anything visually or any motion. Most of the time she will react to her chair moving, but today she was motionless and void of any recognition with every turn of her chair.

She has had numerous episodes like this in the past and you never know when they are going to happen. Fortunately, she only happened to have 2 tonic-clonics, as she has had as many as 10-12 in a single day in the past when these dystonic episodes surface. We have been keeping a close eye on her, as she has gone through the neurological ringer today. Epilepsy sucks, that's all there is to it.

Sunday, July 17, 2016

Another Rough Week

Mira has had a turbulent week, starting off last Sunday by spending the day having continued jerks and an absolute ton of myoclonics throughout the day, which continued into Monday. I had to fly out to New Brunswick on Tuesday morning and didn't get back until mid-day on Thursday. Mira ended up having an enormous seizure Tuesday night in bed, which Sarah said was really awful. That seizure took a toll on her and she was very lethargic all day Tuesday and part of Wednesday - her teacher said she was out of it at school and didn't want to participate in much of anything. By the time I was home on Thursday, she was back to her typical routine, which has been over the past few weeks, just a lot of continued fussing. There has been something bothering her, neurologically, but there is no telling what exactly it is - she has just been irritable and twitchy. On Friday, she seemed to have a better day, even spontaneously laughing on a few occasions, but overall, has not been happy with much. On a positive note, her fancy new sparkly shoes came in (as she outgrew her last pair of Tom's) and she hasn't been able to kick them off yet, not from a lack of trying. These particular shoes are about the only pair she manages to keep on her feet about 95% of the time and of course, they are stylish. She gets so many comments on them!

Monday, July 11, 2016

Continued Fussing

Mira's fussy spell continued through the entire weekend - just like a newborn baby, she would nap, then wake up and start crying until she had a bottle, or two, or three. This cycle started off this morning and was unrelenting the entire weekend. She did manage to sleep solid through the night both nights, but she would pick right back off where she left off the evening before, crying. It never seemed to subside during the day for more than an hour at a time. We did manage to go for a few walks, but it has been so sweltering hot and humid, that it just felt miserable outside most of the time. Getting outside seemed to break Mira's routine temporarily, but she would soon become either lethargic, irritable, or both if we stayed out too long, meaning more than 15 or 20 minutes. She was off school all last week, which may be part of it - she starts back tomorrow morning, so hopefully, things will turn around for her. She hasn't been having any seizures or anything significant - just her few typical random spasms and jolts every so often.