Tuesday, February 24, 2015

A Positive Turnaround

Mira had an interesting day - not really irritable or fussy at any point today. She started off the day as she has been for the past week or so, having a ton of myoclonics, but again, not crabby at all through them. She also had numerous myoclonics before dinner, a few of which almost evolved into a full blown tonic-clonic seizure.

The report back from school was that she had a pretty positive day - she was attentive at times, focusing on objects placed in front of her and even was compliant in her walkabout. She didn't necessarily take any purposeful steps, but was content while she was in it anyway.

This afternoon, she was vocalizing more than I have heard over the past few days. She was making some screeching noises and at times, was kicking up a storm in her bed. This activity went on for about 20 minutes and she took a brief nap before dinner. No complaints through her bath either, which is usually a tough time for her, especially in the evening.

Mira hasn't had much of an appetite the pat several mornings, but makes up for it at dinner time. This evening however, she would only drink one bottle and refused everything else.

Monday, February 23, 2015

Winter Needs to End

This is about the time of the year when I am officially done with winter. Being trapped inside (with the exception of school and work of course) and not being able to just spend some time outdoors, just wears on you after a while. I think we all just need 30 minutes of fresh air right now. We woke up to a balmy 8 degrees here in Kansas City this morning - about two weeks straight of the weather not peaking over 30 degrees. I know, I know - we could be living in New Hampshire.

Mira's past few days have been fairly consistent. Same amount of irritability, same amount of seizure activity, and the same pattern of tiredness and fatigue. She was very tired by the end of the day and she went to sleep a little earlier than usual. Overall, she seemed to be in a slightly better mood than yesterday, maybe because she was able to get a change of scenery at school.

It would be nice for her to get outside and enjoy the swing next door, but it needs to warm up about 40 degrees. March is right around the corner, right?

Sunday, February 22, 2015

An Only Slightly Better Day

Mira had an only slightly better day than yesterday. The only difference with today was that she didn't have an enormous seizure to start off the day, which is great. Unfortunately, she was still in an irritable mood for most of the day. Again, she didn't last long in her chair this morning and just wanted to be back in bed.

Seizure wise, I didn't see hardly any activity, other than some subtle head drops this morning. Mira wasn't having any myoclonics and certainly not any bigger seizures all day, but she was definitely on an emotional roller coaster. She took a significant nap, starting right after lunch, but celebrated the Unhappy Hour at the usual time.

With Sarah and Eli out of town in Los Angeles, I decided to get Mira and Jonah out of the house late this afternoon, despite the cold. We headed up to Ikea to pick up the rest of Eli's new bed frame that I forgot to get last week. Mira loved the car ride, but wanted to keep moving all of the time, which is impossible, especially while battling the crowd in the store. Regardless, Mira managed to muster a few smiles while we were working our way around, but quickly tired when we were at a standstill at the checkout line.

 Hopefully, school tomorrow will break her fussy weekend funk that she has been in.

Saturday, February 21, 2015

Polar Opposite Day

After Mira's spectacularly vocal day yesterday, unfortunately today was the complete opposite for her. She was up and in her chair for about 10 minutes and proceeded to have a massive seizure. This one lasted for about a minute and the aftershock of it lasted another 5 minutes or so. It really knocked her out afterward, for a solid hour. When she finally came around, she was very drowsy and lethargic, which is understandable. The seizure established the tone for the rest of the day.

The remainder of the morning wasn't much better. She became irritable before lunch and wasn't really interested in eating, playing, or sleeping. She just wanted to cry. She took a brief nap after lunch and woke up in a foul mood and was off and on fussy for the rest of the evening.

No vocalizing. Unhappy. Seizures. A completely polar opposite day for her. No diet changes, no medication changes, and nothing out of the ordinary today that would potentially spark a change for her. It just happens. If there is one thing that has been constant with Mira is that nothing is ever really constant. She can have an extremely positive day and 24 hours later turn around and have a terrible one.

Friday, February 20, 2015

Mira's Vocal Day

Mira had a really great day today. She was very vocal all day at school and was in a positive mood the entire day, minus one fussy moment right before dinner because she was hungry. After having a sizable dinner, she was ready to race around the house. Mira came a long way from this morning, when she was having a myoclonic seizure every 15 seconds, for a solid 20 minutes.

After racing around after dinner for a little bit, Mira continued to babble and vocalize. I tried to get a video of her doing this, but every time she stopped moving, she stopped talking. So, I did the 'walking-cam' method, just to give you a glimpse of what she sounded like. Keep in mind on most days, when Mira is making noise, she is usually fussing or crying, so hearing her vocalize like this, it is music to our ears.

video

Thursday, February 19, 2015

Test Your Strength

Mira had a decent day today - woke up having a lot of myoclonics, but in a pleasant mood. She had an off and on day at school - did well in her walker, trying to take a few steps, while not complaining as she usually does. She was a little cranky late afternoon, but again, no seizures before and after dinner, which is always a positive. She tolerated a bath pretty well and ended up getting some time with her toy afterward, which made her happy.

Then she started doing this. I have never seen her do this type of routine repetitively and with such focus. She was quiet as can be while she was doing this almost stretching motion, over and over for about 20 minutes. She looks like she was doing a slow-motion 'Test Your Strength' carnival game with the giant hammer or perhaps she was practicing some new yoga moves. Either way, it was pretty interesting - the whole time she had a look of determination, yet calmness as she was doing it.

video

Wednesday, February 18, 2015

Solid Day, Despite the Seizures

Mira had a really good day at school today - she was attentive and happy, even tracking some objects and reaching out for other toys. Her teacher said she was focusing on things throughout the day. She had a few fussy spells, but overall had a very good day at school.

This morning, Mira was having a lot of myoclonics. She was in a great mood when she woke up, despite having so many head drops and seizures. She tired of her toy after a good stretch playing with it, but didn't get fussy at all before the bus arrived. Same thing this afternoon - not irritable, but too many myoclonics to count. She went to bed a little earlier than usual - she seemed to be pretty worn out from the seizures.

Tuesday, February 17, 2015

Up + Down





Mira had a pretty typical day today - some ups and downs, but overall, not terribly bad. She woke up this morning and had a few subtle head drops and was a little irritable, yet her mood changed once she was in her chair and was able to get some time with her toy. She actually did well this morning after she was dressed and had something to eat. She seemed excited to get on the bus and was anxious for school.

She did have some fussy spells at school, but also grasped a few objects, ones that normally don't even peak her interest in the slightest. She held onto one toy for about 15 seconds, which is a good length of time for her, Mira's stamina apparently wore down eventually at school and was fussy by the end of the day.

This afternoon she was a little off and on as well. She played some before dinner, but again became really tired after she had a couple bottles and wanted back in her bed. The positive thing is that I didn't see any seizures at all this evening - no myoclonics or head drops at all, for several hours before she went to bed.

Monday, February 16, 2015

Similar Day

Mira had a slightly less rocky day today, but still had some serious fussing spells. She did alright this morning for a bit, until she started having a ton of myoclonics right after breakfast. All of those head drops and attacks really got under her skin and she quickly tired of her toy. She rested for a little bit and was irritable during lunch. Mira may have been getting bored, as the kids didn't have school today and it was too cold and snowy to get outside. No big seizures today, which is great.

Mira has been doing the creatine for about a week now and we haven't really seen any improvement, other than her miraculous fuss-free day on Saturday. We will keep moving forward at this dosage and see where it takes us. For now, she seems to have more energy, so it may be helping in other ways.

Sunday, February 15, 2015

Happy Day Streak Ends at 1 Day

After Mira's stellar day yesterday with zero irritability, I had my fingers crossed for a repeat performance. Mira decided to put an end to her stretch of calm demeanor by waking up on the wrong side of bed this morning, She was really cranky. Fussing and crying, I got her changed, dressed, and in her chair and from there, she lasted about 10 minutes before she was in full irritability mode, just crying her eyes out. She managed to finish a bottle through the tears, but obviously, something was really bothering her. She didn't have any tonic-clonics, only a few mild head drops - nothing like she has been experiencing the past few mornings, so I don't think it was seizure related.

So back to bed she went. She proceeded to take about a 30 minute nap, which I suppose isn't really a nap when you just woke up 30 minutes prior. Here was the interesting part. She woke up, started kicking her feet and vocalizing a little, then progressed into doing this for the next 20 minutes:
video
Sarah and I have seen her do these abdominal crunches before, but she was really getting into it today. She was laughing and giggling the whole time. Mira has abs of steel by now. It was some serious movement on her part, especially this early in the morning.

The rest of the day was similar - up and down, happy and sad, sleepy and excited. She didn't have any seizure activity the rest of the day, but alternated between naps, abdominal crunches, and being mildly fussy. She was all over the emotional spectrum today, having periods of belly laughing to tears streaming down her face she was crying so hard. This afternoon, Unhappy Hour was in full swing - she was really irritable from about 4:00-5:00pm and hated being in her bed, but was only slightly less fussy doing anything else. She eventually settled down around 5:30pm, but by then, she was exhausted.

A strange, roller coaster of a day for Miss Mira today.

Saturday, February 14, 2015

Guanidinoacetate Methyltransferase Deficiency

I love to research and to create theories from that research. I'm not talking about theories of aliens that have been supposedly visiting our planet for centuries or conspiracy theories regrading fake moon landings, as humorous as they may be. I do however, enjoy reading scientific based theories that have been studied, documented, and published, in an effort to educate.

I have read literally thousands of abstracts and articles on epilepsy. Obviously, I do this in an effort to see if there is anything that might be applicable to Mira, in the absence of a definitive diagnosis. Most are irrelevant or things we have already tried. Many are so technical in nature that as a lowly architect, I can't begin to understand the complexity of the study at hand. Mira's neurologists have speculated that she has a genetic mutation of some sort, but have failed to pinpoint a specific relevant mutation, mosaicism, or deletion in any of her genetic screens thus far. So, I continue to read.

A few weeks ago, I stumbled on a very unassuming interactive website that investigates (granted on a very limited basis) the scientific research behind the supposed health benefits of  some common vitamins and supplements. Frankly, I didn't think much of it, since I have read quite a bit on a majority of the vitamins, herbs, and amino acids they had listed in the chart. There is no shortage of opinion-based supplement literature floating around in cyberspace.

On the website, you can hover your mouse over the chosen supplement selection and it will provide an external link to the research behind the claim. Most, if not all of the supplements on the chart only provide a single source of data and/or study, thus provides an extremely narrow perspective on the research behind the claim. The top of the chart provides links to supplements with the strongest supportive evidence, again, based on a single linked source. As you work your way down the chart, the evidence diminishes in regards to the specific claim, yet many supplements are represented multiple times in the chart, as they have multiple claims of health benefits associated with them.

To be honest, I was most intrigued by the interactive nature of the chart and at first, paying little attention to the actual supplements being investigated. I then pursued some of the links that I have read extensively about, including vitamins D, E, and B12, glancing over some of the data provided. As I returned to the top of the page, I was most interested in reading something new and trying to find something I new nothing about, which happened to be creatine and its claim of having cognitive benefits.

Creatine was one an amino acid which I had only briefly scanned in all of my readings and to see it not only listed in the top of the chart in the strong evidence category but also having an association with cognition, I was hooked on finding out more. I was prepared to be redirected to a site along the lines of www.showmethecognition.com or a random advertisement, so I was pleasantly surprised to end up on a Pubmed server for its link. The abstract regarding the connection between creatine and cognition was very brief, but cited a host of references for further reading, as most Pubmed articles do.

Until now, I had only a limited association of creatine with muscle performance, but nothing beyond that. So, I started digging. I found creatine had some broad reaching effects on not only athletic performance, but ironically, on seizure activity. I discovered, through a rabbit hole of references, that creatine was actually implicated in a few rare, but debilitating epileptic syndromes, including guanidinoacetate methytransferase deficiency (GAMT), arginine-glycine amdinotransferase deficiency (AGAT), and creatine transporter deficiency (CT-1). I happen to find a dozen or so articles on these three creatine transport defects and focused my attention on this article and also this one, regarding GMAT.

All three of these syndromes are connected through a defect involving the transport and metabolism of creatine in the brain. I won't go into the specifics on each, but GAMT seemed most applicable to Mira's situation. It basically involves the build-up of guanidinoacetic acid in the body, which happens because of a defect in a gene (SLC6A8 and similar functioning genes) involved in the transport of creatine. This failure of the brain to properly process and transport creatine, causes encephalopathy, seizures, hypotonia, developmental delay, and autistic-like features.

There is no denying that epilepsy is complicated and the brain is equally complicated. There are a myriad of issues that can cause a seizure, from metabolic disturbances, to genetic defects, to structural problems, to everything in between. Trying to pinpoint a single root cause of why Mira has been having daily seizures for the past 9 1/2 years has been elusive and will most likely, continue to be so. For now, I am very intrigued by the notion that creatine, GAMT in particular, is somehow involved.

When Mira was about a year old, she had already been through a battery of genetic testing, MRIs, and EEGs, with no conclusive reason why she was having seizures. Her neurologist at the time mentioned possibly doing a creatine study on her, but the chance of it yielding anything were slim to none. Mira ended up having a MRI with spectroscopy, but it didn't reveal anything. What I had read through these articles is that sometimes, a MRI-S can help in the diagnosis of GAMT, AGAT, and/or CT-1. Her neurologist at the time mentioned this in his notes, which we have a copy of.

My theory for now is, that some sort of creatine transport issue is something to pursue with Mira. After reading the studies and their therapeutic approaches to managing a creatine deficiency, it basically comes down to a trial of creatine monohydrate. Since there is no risk of toxicity or side effects (even at very high dosages), we are supplementing Mira's diet with a ratio of it. I figure one of three things can happen: 1. she gets an energy boost from it, helping to also possibly support muscle stamina or 2. it does nothing for her or 3. she truly does have a creatine transport issue and it will help restore her creatine levels and ideally, help with her seizures and/or development.

I'm certainly not banking on scenario number 3, but am staying optimistic. Mira has been trying the creatine for the past 4-5 days, without a whole lot of change, until today. In terms of seizures, nothing has really changed, as she had another big tonic-clonic this morning and continued to have a ton of myoclonics this afternoon. No surprises in that department. Interestingly though, Mira did not fuss a single time the entire day today. Not when she woke up, not when we gave her a bath, not when she wanted a nap, and not even during the notorious Unhappy Hour, from 3:00-5:00pm. It was really strange to not hear her complain, cry, or become irritable, not even once.

It could be total coincidence, a really lucky day, or it could be something more, but whatever it was for her today, I don't care. Mira was happy. She was even smiling and giggling at a few times during the day. I would love for the creatine theory to be proven, but it is way to early for that to happen, as it takes months to restore and maintain creatine levels sometimes.

Seizures aside, I'll take Mira having a really positive day for now.

Friday, February 13, 2015

Heavy Seizures

Mira had a pretty rough seizure day yesterday. When I got her up from bed, she was very twitchy, her hands were clammy and she felt warm. That's usually a positive indication that she is going to either have a bad day or is on the verge of having some heavy seizure activity. Sure enough, she was only awake and in her chair for about 10 minutes, when she had an intense tonic-clonic seizure that lastd about a minute. This was about 6:30am and she was knocked out for a solid 45 minutes. We were on the fence about sending her to school, since this seizure completely drained her.

We decided to send her anyway and all things considered, she had a decent day. She wasn't too interested in doing much at school and was quiet most of the day. She did enjoy her music time and some of her activities, but seemed to be fairly lethargic at times. She was back at home and doing alright for a few hours before dinner, but then had another big tonic-clonic. As with the earlier one in the morning, this one too just drained her.

This morning again, we thought she was going to have a repeat performance, having a few myoclonics that appeared as they were going to slowly unfold into something awful, but they fizzled out after 10-15 seconds. Even those smaller seizures affected her focus. Mira had a half-dozen or so of these episodes in the morning, then a few more this evening before dinner.

She is quietly resting in her bed right now, as the seizure activity over the past few days has really taken a toll on her.