Friday, July 31, 2015

Crazy Busy Week

This week was a long one for everyone. As summer keeps humming along, the last few weeks always seem to be packed with an increasing amount of things to do and places to go. Unfortunately, I had to travel most of this week - two days in Cincinnati and two more days in Louisiana. With me on the road, it makes a long week for Sarah, with no one to pass the baton to when she gets worn out. With the kids out of school of course, it is challenging to keep all three entertained.

Mira has had a rough few days. She continued to have some heavy seizures through the middle of the week, spiraling into a bad day today that involved a long of twitching, seizures, and repetitive motions, much of which looked very similar to the extended episode she had on her birthday. Sarah and I were on the fence today about whether to administer Diastat (as I was in the airport in Louisiana, with Sarah sending me videos of what Mira's episodes were looking like) and ultimately, we decided to wait it out. Fortunately, the activity subsided after about 45 minutes and Mira rested afterward.

During all of this activity today, Mira was refusing to drink anything, partially due to the seizures, but mainly perhaps, because she is really constipated. It is one of the things we really struggle with her and it is difficult to keep her in balance. When she is constipated, her seizures tend to increase and of course, her irritability skyrockets - she is obviously uncomfortable right now. Hopefully, everything will start moving for her soon - it is always a delicate balance with the Miralax.

Monday, July 27, 2015

Monday Seizures Again

Mondays don't seem to suit Mira. Just like all of the seizure activity she had last Monday, today she had 2 intense tonic-clonics. Her first one was at breakfast - it set the tone for the rest of the day. Clammy hands and feet, lethargy, and all of the usual post-ictal issues she usually experiences, happened after the first seizure. She had another big TC this afternoon. She obviously hasn't had a whole lot of energy because of the seizures today.

Sunday, July 26, 2015

The Return of Thumper

Mira had another interesting day today. She wasn't near as vocal as she was yesterday - still babbling quite a bit, but only for a few hours off an on this afternoon. She was quiet this morning and didn't have much to say. Instead of vocalizing, she was kicking. She did a ton of kicking.  She went through a period of this years ago, which earned her the name 'Thumper'. Today, Thumper returned with a vengeance. Mira spent a better part of the afternoon, kicking the daylights out of the footrests on her Zippie. She has been doing this more over the past few weeks I suppose, but today she took it to a whole new level. Alternating feet, both feet together, right heel only while spinning the left - so many different kicking patterns, but the result was the same. She was getting some solid sensory feedback via her feet and it was loud.

I have probably posted the condition of her footrests in the past, but if I haven't, I can assure you that they have seen better days. The foot pads are completely shoved back against the calf supports, from Mira digging her heels in, slowly scraping away at the covers and padding. The actual footrests are banged up as well, with the bolts and washers needing serious attention from her relentless pounding. Today I thought the footrests were going to snap off. After one episode of kicking away on them repeatedly for about 15 minutes, I wedged a bathmat over the footrests and under the Velcro support on the back, just to give her heels some relief.

Mira only had a few hard myoclonics this morning - probably 3 or 4 of them at different times - all isolated and random. I didn't see any seizure activity after about 9:00am this morning. Her last big tonic-clonic seizure was last Sunday, which is a nice long stretch for her without having one.

Saturday, July 25, 2015

Miss Chatterbox - The Second Album

Mira was anxious to get back in the studio this morning to start working on recording her sophomore effort. Her album has 12 tracks and all of them are titled 'ba-ba-ba-ba-ba' in varying tempos and volumes. She had a lot to say from from the moment she woke up. She had a decent morning, but when I put her back in her bed, she started to have a lot of myoclonics. She didn't have a single one in her chair for 20 minutes or so, but once she was laying down, she started having them about every 20 seconds or so, for about 15 or 20 minutes total. Then, that was all of the seizure activity we saw all day long - not another drop, twitch, or anything.

What we did see (or rather, hear) all day long was Mira's vocalization. She talked a constant stream of her new tune, 'ba-ba-ba-ba-ba', the entire day. It didn't matter if she was in her bed, her chair, playing with her toy, or racing around the house - she was always doing it. Very rarely was she quiet. One thing I noticed too, was that she didn't really nap much at all today. It was as though she didn't have time to sleep - too much babbling to do.

She had a few moments where she was going from babbling to fussy at the drop of a hat - like someone had switched a light on and off. Very abruptly, the switch would flip from being very happy and babbling, to irritable with tears streaming down her face within 5 seconds or so. For most of the day, she was in a great mood and always talking. At about 4:00 this afternoon though, she turned on the fuss-o-meter for a full-fledged wail-a-thon for a few minutes, but she got over it once she had a few bottles. She was obviously hungry and we needed to know - loudly. Then it was more ba-ba-ba-ba-ba the rest of the evening. I think her voice even became a little hoarse from all of the vocalizing. I can't recall the last time she has had so much to say in one day, let alone two days in a row.

Friday, July 24, 2015

Miss Chatterbox + Pyridoxine Update

Mira has been having a couple of great days - very vocal and animated all day long. Today she has been exceptionally vocal. If you listen to the video (ignore the microphone picking up the creaking floor and her squeaking Zippie wheels) she has been basically doing this for hours. She is certainly more vocal when we she is moving around in her chair, but as I am typing, she is still making the same noises, just sitting and playing with her toy.

We are a little over 45 days on the pyridoxine at a decent dosage and so far, I think the affect on Mira's over all disposition has been very positive. She is increasingly vocal, happier, and smiling more. She still has her good and bad days, but looking at everything globally since the beginning of June, I think there have been more checks in the positive day column. In terms of seizure control. she has had a few seizure-free days and even a few back-to-back  SF days, which is more than she has had in quite a while. Complete seizure control would be ideal (if the theory holds true) but we are a long ways off from that right now and I am certainly staying realistic. My hope is that her positive demeanor and low seizure days start to outnumber her rough days as we keep moving forward.

I did exchange some emails between one of the authors of one of the articles that I have read and his response was fairly guarded and reserved. He said it would be highly unlikely that someone would respond to pyridoxine a second time, after being seizure-free on the first trial. Although this has happened to patients he has seen in clinic, on this type of pyridoxine therapy. Stranger things have happened I suppose. Mira will continue to take around 25mg/kg per day, indefinitely. Again, I am just following historical patterns with her and should history miraculously repeat itself, we would see drastic improvements in seizure control around the beginning of September.

Wednesday, July 22, 2015

Endocrinology + Swimming

Mira had the last of her swim therapy sessions today and fortunately, I was able to actually get in the water with her. It was amazing to see how excited she was when first getting into the pool. All arms and legs were going in every direction and she was smiling up a storm. She simmered down after a few minutes, but was enthusiastic and smiling the entire session. I think she really gets a ton of sensory feedback when she was in the water. Despite having the luxury of the water to help support her in the pool, it is still an exhausting endeavor to hold her in the water. Sometimes it feels as though she is a 4-arm octopus who is constantly trying to squirm in every direction imaginable. Her coordination is all over the place, but I think the therapy is very beneficial for her. Hopefully, the session offered over the summer will again be available in the fall - I think CCVI is going to try and work something out to make it a permanent part of their schedule.

Right after swimming, Mira had an endocrinology appointment, which was brief and uneventful. We didn't realize it had been so long between Lupron shots, but it had been over three and half months, when we should have been in clinic after two months. Mira has been receiving Lupron shots for the past several years, as we started to see signs of precocious puberty before she had even turned 8 years old. Because of all of the seizure activity she has been enduring for years, her hormonal balance is completely out of whack, which apparently is not uncommon with kids with neurological issues.

After Mira's bout of irritability and seizures on Sunday, Monday, and into yesterday, she rebounded and had a fantastic day today. She was very vocal at school, focusing on objects as well. Her enthusiasm continued at the pool and even at her appointment, which lasted over an hour from start to finish. She took a quick nap when we arrived home and has been happily playing and racing around the house. We saw some brief myoclonics this morning, but no other seizures all day long.

Monday, July 20, 2015

Monday Blues

Mira's off day is now turning into a more of a stretch. She woke up this morning having an uncountable number of myoclonics and was having a lot of difficulty trying to play with her toy with the constant flow of neurological interruptions. One seizure after the next, with her toy exacerbating the activity even more. Her feet and hands continued to be wet and clammy today, with her demeanor turning sour as the day progressed. She was irritable this afternoon and continued to have countless myoclonics through dinner. Over the last few hours, she has come out of it a bit. She didn't seem to mind her bath so much and is content with her toy right now. Yet overall, she fell back into one of her more typical days - lots of twitching, seizures, and irritability.

Sunday, July 19, 2015


Mira's pattern of having a couple of great days, with a bad bookend days on the front and back end, continues. After having a few solid days in a row, today was an off day for her. She woke up and had a ton of myoclonics right off the bat, then had a big tonic-clonic seizure this afternoon. Her hands, feet, and back have been clammy and sweaty all day long, which is usually a sign that something neurological is going on. Ironically, she has not been fussy all day today - I may have jinxed it by posting just now, but she hasn't uttered so much as a whimper over the past 24 hours. Even through all of the seizure activity today, she remains in a good mood. We went outside this morning to get into the swing, before the rain started, yet again. Mira was content in the swing for a few minutes, but you could tell she wasn't fully into it.

Saturday, July 18, 2015

Another Solid Day

Mira had a very quiet, yet positive day today. She woke up this morning and had a few subtle head drops, which were barely perceptible pauses almost, I could tell it was something neurological. but you could barely see it on the surface. She played with her toy for a bit and we headed out to run some errands. She was quiet for most of the trip and then was a little fussy on the way home. She had a few bottles and I put her back in her chair and she had one single, strong myoclonic, that fizzled out after a few seconds. That was the one and only seizure I saw all day. I think something was going on leading up to it, as it was the literally the only time she was fussy the entire day. After it was over, she wasn't crabby at all the rest of the day and I didn't see the slightest bit of seizure activity. In fact, she was full of energy and was enthusiastic the rest of the time - especially happy when cruising around in her chair. She stayed up late too and wanted to keep playing with her toy.

Friday, July 17, 2015

A Very Positive Week

All in all, this has been a very positive week. Mira had a round of seizures earlier in the week on Tuesday, but since then, it has been eerily quiet on the seizure front. Mira woke up again this morning and had a handful of subtle myoclonics - none of them were very pronounced and they didn't last long. She hasn't had any tonic-clonics since having those two on Tuesday, which in itself, is pretty remarkable and certainly atypical for her. In fact, total number of full-blown tonic-clonic seizures for the past week has been 2, which is well below average for her. She has been doing fantastic in the afternoons too. Minimal amounts of fussiness and a whole lot of energy. Today again, she enjoyed racing around in her chair, not having quite as much energy as yesterday, but was still enthusiastic for a solid 30 minutes while we raced. Mira was getting vocal during it too - sort of humming and just making these extended 'mmmmmm' sounds whenever she was moving around.

Thursday, July 16, 2015

Two Days On; One Day Off

Mira has been alternating days with seizures. After a great weekend (at least 2+ seizure-free days) she had an off day on Tuesday, having multiple seizures and a ton of myoclonics. Yesterday and today though, she was back to having a minimal amount of activity. She had a few subtle myoclonics yesterday morning, but nothing after that. Today again, some very, very light myoclonics in the morning and then nothing the rest of the day. She had a ton of energy around dinner time and wanted to do nothing but race around in her chair for almost an hour. She wore herself out kicking and waving her arms, finally settling down after we walked around before and after dinner.

She had some serious happy feet over the weekend. You can see in the video how much she has destroyed the foot pads on her Zippie. She kicks with the bottom of her heels repeatedly - it looks like it hurts, but I think she has mastered it to where she is simply getting positive sensory input.

Tuesday, July 14, 2015

All-Star Weekend

Mira woke up in a great mood this morning, despite having a ton of myoclonics. Ironically, this weekend and yesterday, she didn't have any seizures - no myoclonics, no tonic-clonics, and no twitching at all since the two big seizures on Friday. Her streak ended this morning by having a steady stream of myoclonics, then ended up having 2 big tonic-clonics - one this afternoon and another during dinner. Regardless, it was nice to to see her have a few consecutive seizure-free days. Despite all of the seizure activity today, she remained in a positive mood, having only one fussy spell at school, when she was in her Kidwalk.

She was fairly fussy over the weekend, probably because we were trapped indoors most of the time. The sweltering heat and humidity here has been going strong for 4 or 5 days and it is supposed to last through the end of the week, at a minimum. We went outside a few times on Sunday to spend some time in the park, but the swings were so hot, you couldn't even sit in them. Mira didn't care for the heat either - she was sweating up a storm after only a few minutes.

Sunday, July 12, 2015

Pyridoxine Deficiency (and Dependency)

Over the past almost 10 years, I have read extensively on catastrophic epileptic syndromes and potential treatments for epilepsy. I feel as though I am fairly well read on the subject and can bore anyone within 10 minutes flat, if they are willing to listen. I have researched everything from calcium channels to cannabis, from NMDA receptors to the blood-brain barrier, and seemingly everything in between. Every once in awhile, I will find something that could be a potential option for Mira, which usually sends me down a rabbit hole of research for studies, trials, and documentation on the subject. There seems to be no shortage of information online, if you know where to search for it. Much of it is highly technical and being a lowly architect, I can often only extract the broader ideas behind the article or study.

Some days it seems hopeless, like I am searching for an answer that will most likely, never be found. Other times, I am optimistic that I will stumble on something that may shed some light on Mira's situation, in the hope that it will help her in some capacity with her seizures, her irritability, or her overall quality of life. In the absence of finding why she suffers from relentless daily seizures, I continue to read and research. It has simply become part of my day.

About 2 months ago, I stumbled on a fascinating article, having to do with Pyridoxine Deficiency (PD), located here. It was a simple, three sentence abstract through PubMed, written 30 years ago. I found this article interesting for a host of reasons, as I have read quite a bit on PD over the years, and because Mira had done the 'pyridoxine challenge' when she was about 4 months old. I remember at the time they did the test, I found it miraculous that a lack of a vitamin B6, could have such catastrophic implications on the body, particularly the brain. Years later, I had since read much on PD and BD (Biotinidase Deficiency) along with a host of other metabolic syndromes, which a lack of or a surplus of vitamins that cause havoc on the nervous system. Pyridoxine, as it turns out, performs over 100 different functions in the body, from aiding neurotransmitters to protein metabolism.

PD is very well documented, even being researched as far to suggest there is an EEG pattern associated with PD. If you do a simple search for PD on PubMed, you will pull up 556 articles related to it, dating back to 1945. Some of these I am very familiar with, but I decided to read further into the idea that a response to PD can be delayed for months, based on the original abstract I read. Down the wormhole I went, which led me to a definitive chapter from Genereviews, which is a collection of chapters having to do with specific genetic conditions. The chapter on pyridoxine, written by Dr. Sidney Gospe, is an exhaustive collection of information and links regarding PD. Gospe, who is physician out of the University of Washington School of Medicine, seems to be the authority on PD, as his name has surfaced on so many different articles I have read.

There is a brief discussion in the article, which describes and references 'atypical' presentations of PD, particularly with these findings:

  • Late-onset seizures (age ≤3 years)
  • Seizures that initially respond to anticonvulsants and then become intractable.
  • Seizures during early life that do not respond to pyridoxine but that are then controlled with pyridoxine several months later.
  • Prolonged seizure-free intervals (age ≤5 1/2 months) that occur after pyridoxine discontinuation.

I found this utterly fascinating and frankly, possibly relevant to Mira. Again, when Mira had done the pyridoxine challenge, she was around 3 or 4 months old. The test essentially involves an injection of 100mg of pyridoxine, administered during an EEG. In many cases, the EEG will normalize within minutes of metabolizing the B6, but is sometimes delayed for a few hours, Thus, continuous, timed injections of pyridoxine are administered, up to 500mg, to see if any change is noted on the EEG or with the child's symptoms. This I had read about, but I had no idea that the delayed response to pyirdoxine can actually be months, not hours. Nothing had happened to Mira's EEG when they tried B6, so she was considered a non-responder. Just this past year, Mira had even completed a comprehensive epilepsy panel, which tested for ALDH7A1, one of the primary genes associated with PD. There is also a lees common PNPO genetic association.Yet not all children with PD test positive for mutations in ALDH7A1 (or PNPO), so it does not exclude her from having PD.

After reading all of this information, I went back to see when we had started a trial with Mira on B6, as I remember trying it at one point, but I don't remember to what degree, nor when that exactly was. As it turns out, it was around August 2007. Unfortunately, I did not document how long we had tried pyridoxine, at what dosage, and when we actually stopped it. I can tell you though, that Mira became seizure-free in November 2007, about 3 months later. She continued to be seizure free for around 5 months, when we slowly started seeing her familiar seizure patterns develop again. This pattern of seizure freedom and pyridoxine may or may not be relevant, but intriguing enough to pursue the idea.

This is complete and utter speculation, but it is what I am theorizing at this point - it might be possible that Mira actually is atypical PD and potentially has a very delayed reaction to supplementation. Her period of seizure freedom could be chalked up to this as well, based on the articles I read. I don't have any recollection of how long we kept doing the B6 in 2007 and it could all be coincidence, yet I don't want to completely rule it out. Again, it is total speculation at this point, but it is possible. At the time, the only thing we could associate Mira's seizure-free stretch with was the Lyrica. It seemed to be the miracle drug for her, stopping all of her seizures within a couple weeks, which is pretty miraculous, considering she had failed 14 different medication trials before that. Her seizures slowly crept back and she never had a seizure-free time again and she is still taking Lyrica, 8 years later.

After reading this article by Dr. Gospe, it became apparent that we should revisit the pyridoxine potential, so we started a low-dosage of it in the beginning of June. Right now, she is holding steady at around 20mg/kg, which is a medium range dosage for PD. I have read articles that have administered up to and beyond 100mg/kg, but a majority of the articles consistently stay within the 10-30mg/kg range. There is little to no risk with pyridoxine, with many reports from the 1980's even being falsified or misleading (see Chapter 11 and the Schaumburg reports), so I am not worried of any risk at this dosage, especially if this theory proves to be wrong and we stop using it after 6 months. Besides the fact that we have tried 20+ different pharmaceuticals with questionable safety and efficacy ratings, I think it is only fair to Mira to try something simple and non-toxic. 

We are going to hold steady at this dosage for awhile and wait it out for a few months. If history repeats itself and my theory is true, as it has already started to, Mira could potentially hit a seizure-free date of around the beginning of September of this year. We haven't seen much change in seizures or irritability since we started the pyridoxine, yet based on the theory of her having PD, she wouldn't be seizure-free until the end of August. Ironically, we have seen a minimal amount of seizures since Friday, not seeing any yesterday or today. On the fussiness side, she was very fussy yesterday and has been up and down today. I'm staying cautiously optimistic about this right now, but there certainly is some logic behind this that could prove to be life-changing for Mira.

Friday, July 10, 2015

An Interesting Day

I took the day off work and was able to spend the day getting caught up at home. Mira was an interesting mood all day today. She spent the morning playing with her toy, having a minimal amount of head drops and myoclonics. She had a huge appetite too, finishing off 3 bottles in about 20 minutes. We then spent about 45 minutes racing in her chair around the house, which Mira was very energetic about - she just kept going and going, not wanting to stop racing.

We then ran a few errands and Mira did not make so much as a peep - even went we spent a solid 10 minutes in the spice aisle in the grocery store. She was incredibly patient during everything. After errands, she had a decent lunch and took a sizable nap. She played with her toy more this afternoon and again, we spent another 30-45 minutes racing around the house. It rained the entire afternoon, which kept us indoors, so it was the logical thing to do to keep her entertained. She again was full of energy through all of the racing, never fussing once. She just quietly wore down and went to bed.

Mira's typical day, on the Fuss-O-Meter, is usually around a 5. Some days, she cranks it up to a full 9 or 10, when she just cries all day, but rarely does she have a day like today - practically a zero. She only fussed once all day, for less than a minute when she was up from her nap.

Wednesday, July 8, 2015

Swimming + Seizures

Mira had her third swim class today, which she enjoyed very much. It was much cooler today, so the lack of oppressive humidity we have been experiencing for the past few day finally broke. It made the outing a little easier for Sarah and the boys.
Mira's morning started off rough, having a seizure first thing this morning. She was clammy and tired the rest of the morning, until the bus arrived. She perked up a little and she ended up having a decent day at school, last 30 minutes in the Kidwalk without complaining. After swim, she had another big seizure, which again, gave her cold, clammy hands and feet. She did enjoy a nice bath and was fairly quiet the rest of the evening.

Tuesday, July 7, 2015

Opposite Day

After Mira's miserable day yesterday, she did a 180 degree turnabout and had an awesome day today. She woke up full of energy, having only a few myoclonics in bed before she was dressed, but persevered through it and had a very energetic morning. She was attentive and happy at school, even keeping her feet on the floor when she was in the Kidwalk. The entire afternoon, she didn't really fuss at all. After dinner, she wanted nothing but to keep moving, We raced around the house in her chair for literally an hour straight and she did not tire at all - in fact, I tired out and had to stop walking with her. Once in bed, she continued to kick her feet and vocalize. It amazes me how she can have an incredibly rough day, then turn around and have a spectacular day. She is always keeping us on our toes.

Monday, July 6, 2015


Mira had an awful day today. She spent the entire day crying and fussing - absolutely nothing would make her happy. I did the rounds with her this morning before I had to go to work, which left Sarah holding the torch for the rest of the day. After Mira's non-stop wailing all morning and most of the afternoon, Sarah was pretty fried by the time I got home, thus she handed the baton back to me. Mira chugged back 2 bottles and her toy seemed to keep her happy, for about 5 entire minutes. She had an appetite and didn't seem like she was in any pain, although it is always difficult to tell with her. Apparently, this back and forth, from her chair, to her bed, with her toy, with drinking in between, had been going on for hours. Sarah said she took a nap in the afternoon for about an hour or so, but whenever she was awake, she was crying. No seizures; no head-drops. Nothing but crying.

She finally came around, about an hour before bed, when we raced around the house in her chair. She giggled some and at least showed a tiny bit of interest by kicking her legs. Boredom? Not sure, as we were running around quite a bit yesterday and she was equally as crabby.

I thought today she might enjoy some peace and quiet, after a hectic weekend and recent late night outings. I guess not. She went to bed early - I have no doubt all of the fussing wore her out.

Saturday, July 4, 2015

The Fourth of July

After a late night out at some good friends of ours, watching a spectacular fireworks display (and lighting many of our own), I figured the kids would sleep in later than usual, since they were up so late. I should know better, as they were all up at the usual time - early. Mira did not do well last night - she tired easily of her surroundings and constantly wanted a change of scenery, which we provided. We eventually laid a blanket down for her in a nice quiet bedroom, but she just resisted and cried most of the time. She finally fell asleep, on the way home.

She has been having a rough time today too - she has had 2 big tonic-clonic seizures, one right after lunch and another before dinner. On both occasions, her toy seemed to be the trigger. Before the first one, she was having a ton of hard myoclonics and I noticed she had really clammy feet and feet, prior to getting her into her chair. I figured it was safe to try her toy again, about 3 hours later, which backfired when she had another involved seizure. We had decided to head out for fried chicken at Rye, which Sarah and I have been to a few times before, thinking that the kids all might be on decent behavior for a nice sit-down meal. I should have know better on that decision too - I was 0 for 3 today, which gives me a .000 batting average.

Needless to say, Mira spent most of the day reclined in her chair, recovering from the seizures. Out at dinner, she has very quiet and reserved, to be expected. The boys could have exercised much better behavior. I don't think Jonah was struggling with the concept of what is appropriate and inappropriate at the dinner table. We survived the dinner and headed home afterward. Neither of the boys were interested in seeing fireworks - I think they were just worn out from last night.

Wednesday, July 1, 2015

Wednesday Swim

Week 2 in the pool proved to be exhausting for Sarah and Mira. The amount of work to get Mira changed, dressed, and actually into the pool, is guaranteed to send even the most in-shape person into sweat mode in a flash. Then there is the hour Sarah spends in the pool with her and of course, then getting her changed out of her sopping wet suit and back into her regular clothes. By the end of it, Mira was yawning and Sarah was exhausted. The weather here has been wet and humid too, offering no relief once outside of the pool either.

Mira has been in a great mood today, even with the extensive workout in the pool. She had a big appetite for dinner and played with her toy for a long time afterward. She even laughed a bit during her bath. She had a modest amount of head drops, most of them have been pretty subtle and thankfully, no big tonic-clonic seizures since the weekend.