Tuesday, January 31, 2017

Mira's New Chair

Mira's new chair arrived today! While it is technically the same chair (a Quickie Iris) and only slightly larger to accommodate her future growth, it feels like it it so much bigger. Perhaps it is our tiny house with narrow doorways, or the new tray attachment, but it just feels enormous. Her tray and easel are certainly wider than her current chair and they barely fit through the doorway to her room. Her easel has adjustable knobs on each side, which allow it to tilt on the tray, but unfortunately, they protrude out much farther than her old tray, and they nearly hit the door jambs and the narrow hallway to her room. The new headrest feels more secure and has more of a curve to it, for better head support on the sides. The footrests are also very stout and did not come with foot pads. Mira kicks with her heels so much on the footrests, that she has destroyed her last set, so we figured it didn't make sense to get any on her new chair. She kicks with the heels of her feet just for sensory input, so the pads weren't necessarily providing any real protection. The biggest change is perhaps, the color - it is dark purple in color, much darker than her current pink chair, which we couldn't get because they no longer supply the Quickie in that particular color. The process with the seating company went very smoothly this time, a far cry from our last interaction with her previous chair, over 4 years ago. The company has since changed names and ownership, all for the better. While we met with the same sales rep before, however the communication and exchange was fairly painless this time.

Monday, January 30, 2017

Melissa Officinalis (Lemon Balm)

While we are continuing on this theme of alternative herbs, I wanted to offer up lemon balm (melissa officinalis or I will use the acronym LB) is often lumped into the same category as bacopa monnieri. LB is recognized for having a calming effect, often categorized as a natural anti-anxiety treatment. In terms of seizure control, most of the articles that I have come across are limited to animal studies, including this one, and this one, and even this one. While the effects of LB have all been positive in every study, there are few human trials that have been documented, although the conclusion reached from all of those studies were that there was 'insufficient evidence to support a well-established use monograph'. Also, while no adverse effects were recorded in any of the human trials, the half-life of melissa officinails seems to be very limited, offering little extended protection beyond a few hours, in terms of effective seizure control or as an anxiolytic. One of the most promising trials I have read in regards to LB is located here. The phytochemical mixture used in the study (Cyracos) can actually be purchased OTC by a variety of suppliers. The efficacy of this particular LB mixture was much more effective at alleviating symptoms of anxiety, at a higher 600mg dosage. Lemon balm didn't appear to be much of an option for Mira, as most of the anecdotal data I have read has to do with it being an anxiolytic and perhaps not effective for seizure relief. Nonetheless, it might bring some value in reducing Mira's irritability.

Saturday, January 28, 2017

This Week with Mira

This week was a busy one for everyone, but most of all for Sarah. On Tuesday, I had to leave for Boston and didn't return until Friday evening, which left Sarah to hold down the fort for 4 solid days. Since the kids didn't have school on Friday (teacher work day) it made the stretch toward the work week finish line even more of a challenge. Mira was very up and down for the entire week - some days she was in decent spirits, but her shifting moods have been difficult to predict, and to try and redirect. For instance today, we had one of those days where nothing would satisfy Mira's fussiness for more than a a  few minutes, unless of course, you were walking. Thus, we took several walks today, all in the afternoon, when she was at her lowest. We ran some errands this morning which she tolerated for awhile, but soon expressed her lack of interest by squirming in her chair, while getting increasingly upset. She couldn't stand not being in constant state of motion. On our walks, she would only get irritable whenever we stopped. We went down to the village (our local shopping area a few blocks away) and with each stop, in each store, she raised the cranky bar one more notch, until we were back on the sidewalk. She ultimately settled down after dinner, but at the end of it, this Saturday was just 'one of those days' for her.

Vitamin D + Vitamin A

There is a lot of research that exists on vitamin D, particularly in relation to depression, autism, seizures, and a host of other neurological manifestations, that supposedly stem from having low vitamin D levels. Referred to as the 'sunshine' vitamin, vitamin D is a fat-soluble (can be stored in the body) and its main function is to promote calcium and magnesium absorption in the gut. I won't go into the specifics, as they can be explained much more thoroughly on this site than I could ever do justice.

I have always maintained a certain level of skepticism with vitamin D, since to me, it really isn't a vitamin at all - it's a steroid, that ultimately can affect hormone levels in the body, which in turn affect the entire equilibrium of the endocrine system. Touting vitamin D as the savior for combating all of these different illnesses raises a number of questions for me and there is certainly an endless amount of literature to address my inquiries. Just search through Pubmed and you will discover enough reading for all of 2017. Vitamin D is implicated, in terms of epilepsy alone, in everything from hypocalcemia to influences on AEDs.

Vitamin A on the other hand is a bit of an anomaly when it comes to the implications on seizures and autism. Vitamin A is also a fat-soluble vitamin, nearly synonymous with, on every single health website imaginable, the word 'vision'. While its importance to the cornea cannot be ignored, the vitamin's influence on other organs should not be understated. Just like vitamin D, vitamin A can also influence hormones.

So what is the potential connection between D + A? I have been asking this same question, as I have gone through a ton of anecdotal stories regards the efficacy of both vitamins, on seizures and autism. Some medical professionals have even gone so far as to develop a high dosage protocol for the treatment of autism in particular, for both vitamin D and vitamin A. There are message boards that have extensive threads on this very subject, most of which reference one single source: The Vitamin D Council, which is less of a populated 'council', as it is the compiled research of one person, Dr. John Cannell,  and you should note with full disclosure, he specifically endorses one particular brand of vitamin D, developed by Biotech Pharmacal. I'm not sure exactly why this particular balance of vitamin D3, vitamin K2, magnesium, zinc, and boron are considered an exclusive proprietary blend that they need to be endorsed, with Cannell potentially being compensated for, as there are hundreds of supplements on the market, but I digress. Regardless, Dr. Cannell's commitment to researching the effects of vitamin D should not go unrecognized. His agenda seems very simple - most of the general population is deficient in vitamin D and everyone who is deficient, should be supplementing to some degree. In terms of vitamin A, no such council exists as far as I can tell, thus there is no single unified source of literature to comb through.

There are connections between D + A and they revolve around the mechanism of action. The one that I started focusing on was the idea that both vitamins can influence voltage-gated calcium channels (VGCCs). You've probably heard me mention this in the past, as VGCCs are the supposed mechanism of action of Lyrica (pregabablin) which is a medication that Mira has been on for years. The function and pharmacology of VGCCs are nicely organized in chart here, which as you will read, influence everything from nerve terminals to endocrine cells. VGCCs have been the focus for therapeutic studies for some time - here is an extensive technical paper on the subject. If vitamin D can affect the 'fluidity' (so to speak) of VGCCs, are there antagonists that do the exact opposite? As it turns out, there has already been some research regarding the antagonistic relationship between vitamin A and vitamin D. I also found a great article that highlighted the concerns of excessive or even additional supplementation of vitamin D in relation to autism, from more of a historical perspective.

Saturday, January 21, 2017

Bacopa Monnieri

I have researched a number of alternative therapies for the treatment of epilepsy and one of the more interesting ones I found was bacopa monnieri (BP or just bacopa). Bacopa is a flowering herb, with supposed medicinal properties that is more commonly used in Ayurvedic medicine, for the treatment of everything from seizures to asthma. The investigated chemical(s) within bacopa that provide the actual therapeutic effects are bacosides, which are often recognized for their neuroprotective qualities. The bacosides have also been researched for their effects on blood flow, memory, antioxidant activity, and acetylcholine levels in the body.

I was most interested in the research on bacopa's effect on seizures, which is fairly limited in terms of solid human trials. There is a brief abstract here, but most of the other studies I came across were only animal studies. This full article and references can be accessed here, which offers some interesting details on the effects of bacopa on a host of different neurological issues. In the studies that actually listed the extract details, the range seemed to be anywhere from 30-60% bacosides, which is comparable to what you would find in any OTC bacopa supplement. Most supplements range from 20-50%, depending on the extract and/or manufacturer. In terms of seizure control, based on what I read, the effects of bacopa were all over the place, somewhat speculative, and again, limited to studies primarily on rats. The mechanism or potential actions included:

Raising serotonin (5-HT) levels in the brain
Reduction of oxidative stress
Prevention of glutathione reduction in the body
Potent antioxidant (greater than vitamin C)
Possible dose-dependent metal chelator
Glutamate excitotoxicity mediator

Out of all of these proposed positive impacts on cognitive processing and/or development, I found the elevation of 5-HT levels to be the most interesting. There seems to be a strong relationship with epilepsy/autism and serotonin. Despite the fact that all of these studies were only animal studies, there is convincing evidence that whatever the catalyst is (bacopa, tryptophan, 5-HTP, etc.) for altering 5-HT levels, whether directly or indirectly, has an effect on the neuroprotective capabilities of the brain and central nervous system.

Friday, January 20, 2017


Mira has had an up and down last few days. She is fairly quiet and in a decent mood in the afternoon and around dinner time, but the mornings have been a little rough. She has been refusing to drink more than one bottle at most, when she usually has two, which means that she ends up getting hungry at school much earlier than usual. It seems to throw her whole internal clock off for the rest of the day and she ends up being cranky by dismissal time, which ultimately means she is cranky on the bus ride home, as she was today. Yet, she won't drink enough in the morning and she gets fussy, for whatever reason, so she ends up back in her bed until a few minutes before the bus arrives until she calms down. It's a vicious cycle. Ultimately, she has been ending the last few days on a high note, drinking a ton for dinner, then having some extended toy time before bed. Tonight in fact, she went almost a solid hour of playing with the toy, before getting worn out. We have had some very positive success since reintroducing the toy - she hasn't had any seizures or even twitches when playing and it certainly isn't acting as a trigger as it used to in the past. We will continue with it, unless we start to see some familiar patterns emerge. Sarah is in Cincinnati visiting her sister, so I will be holding down the fort with the kids until Sunday afternoon, so we will all be trying to find some fun things to do for the weekend. Wish me luck!

Thursday, January 19, 2017

Biotinidase Deficiency

Very similar to Pyridoxine Deficiency (PD) there is another very treatable cause of epilepsy in children, called Biotinidase Deficiency (BD). As children with PD require extremely high dosages of vitamin B6, infants and children with BD require large doses of biotin (vitamin H) typically in the 5-10mg a day range. The recommended daily intake for biotin is 5mcg, thus a dosage for someone diagnosed with BD is 5,000-10,000 times the RDI for the vitamin. Once a child has been diagnosed with the deficiency, they must stay on this high dosage of biotin for life - the lack of this enzyme requires a consistent high dosage to maintain proper levels in the body. All of the symptoms for BD are very similar to Pyridoxine Deficiency, including hypotonia, ataxia, seizures, developmental delay, eczema, and hearing loss. The enormously wide spectrum of epilepsy can have many causes - Biotinidase Deficiency can be one of those causes and has a very simple treatment. Early recognition of BD is critical, as delays in diagnosis can lead to developmental delay and can sometimes have permanent damaging effects.

Back in 2005, when Mira was born, Kansas had not adopted newborn testing for BD, thus Mira was not actually tested at birth. I happened to stumble on BD in all of my readings soon after her diagnosis and brought it up to her neurologist who thought it would be a good idea to have her tested. A simple blood draw ruled it out - her levels were normal, but she obviously had many of the symptoms of BD. Prior to the testing, we went ahead and put her on a large dosage of biotin for a few days until the results came in, but it did nothing for her seizures. We ruled out BD very early on in Mira's journey with epilepsy, nonetheless, I was glad to have found this very treatable cause of epilepsy as a potential cause, early on.

Wednesday, January 18, 2017

The Ketogenic Diet

The Ketogenic Diet (KD) is a specfically designed diet for the treatment of epilepsy, developed nearly a century ago, in the Mayo Clinic. It was a popular and successful treatment option for epilepsy, especially in children and young adults, but it fell out of favor in the 1940's, as AEDs began to flood the pharmaceutical market. It is still used today, typically started through the direction of a medical professional in a hospital, requiring a fair amount of monitoring to initiate. Equally as difficult is continual compliance with the diet, because of its strict guidelines on the fat to carbohydrate ratio. The KD can be very difficult on the body as well, with many children stopping it due to kidney stones, diarrhea, severe constipation, and/or the inability to tolerate the limited food choices the diet has to offer in general.

How does the diet work? Once the diet is initiated, the body eventually goes into a state of ketosis, where the primary source of fuel for the body is fat and protein, which in turn, affects how the brain functions, in a very simplistic sense. The traditional KD uses little to no carbohydrates as a source of energy, instead uses fat to break down into ketone bodies. The Modified Atkins Diet (MAD) is similar in structure, yet allows more carbohydrates into the overall ratio of caloric intake. It could be referred to as the 'Ketogenic Diet Light' in a sense. The typical KD however, is fairly rigorous, with the ratio of fat to protein and carbohydrates being in the range of 4:1 to 1:1 (4:1 being obviously the most aggressive and rigorous end of the diet) in order to try and gain seizure control. On a 1,000 calorie diet, only 8 grams of carbs would be allowed on a 4:1 ratio, which makes it very difficult to meal plan around such a limited amount of carbohydrates.

If you consider the foods that have zero or nearly zero carbs, you won't get a hand cramp writing them down: eggs, heavy cream, butter, most meats, most cheeses, mayonnaise, coconut oil, and MCT oil. There are a host of vegetables that have low carbs, including spinach, cauliflower, and even broccoli, but they still contain some carbs, so the ability to weave them into the diet is challenging. When you are limited to 8 grams of carbs a day, it makes meal planning very difficult, yet very predictable. Again, there are less strict ratios for the diet, but the basic idea is that you are substituting a large percentage of your typical intake of carbohydrates and protein, with fat and calories.

We tried the MAD with Mira years ago and it was very difficult on her. We initially tried to have her admitted to try the traditional KD, but her labs were so far off the charts, that the clinic felt she would not be a good candidate for the diet. Before she was even considered being admitted to the hospital, she had very elevated BHB (beta hydroxybutyrate) levels for some reason, indicating that she was already in some level of ketosis. She also had very high cholesterol levels, which no one felt comfortable starting her on the diet at that point. We agreed to start her on the MAD instead, thinking that she might tolerate the ratio better that the KD. If we saw some seizure reduction with the MAD, we could increase the ratio as we went along. Unfortunately, Mira did not tolerate the diet well - there was a lot of irritability, constipation, vomiting, and continued elevated cholesterol after several months, that we slowly abandoned the diet after 4 or 5 months. She never really could stay in a solid state of ketosis either and with all of the complications just on the MAD, going to the full-fledged KD would have been brutal for Mira. We never saw any change in seizures in that time as well, in fact, if my memory serves me well, her seizures actually worsened.

Clearly, the diet does not work for everyone, but it has helped a lot of kids with seizure control. The Charlie Foundation was developed over 20 years ago as a resource for the KD, as a result of the diet being hugely successful for a child named Charlie Abrahams, who was battling epilepsy at the time. It is a fantastic point of departure to find out information on the diet, find support, and to see other therapeutic applications the KD has to offer.

Tuesday, January 17, 2017

Back at School

Mira was back at school today, after an extended 4-day weekend. She must have sensed something was happening this morning, since she was kicking her feet 100 miles and hour, making it a wrestling match to try and get her dressed and ready. She wanted nothing but to be in her chair and moving. Based on her teacher's report, she had a solid morning, but wanted to eat lunch early - not a surprise, since her M.O. the past few mornings has been to eat a mediocre breakfast (a half-bottle as opposed top her usual 2 full bottles). She was moving so much this morning before the bus, that it made it difficult to get her to drink anything, since she just wouldn't stay still or interested long enough to finish a bottle. She was quiet this afternoon after school and during dinner, probably worn out from getting back into the school rhythm.


The amino acid taurine was a subject of interest of mine for awhile. It is one of those supplements that is mentioned repeatedly in medical abstracts as a potential source of epilepsy relief, usually in the context of it being a 'complimentary' treatment option.

I first started investigating the basic pharmacokinetics of taurine, which were studied here, which ultimately led me to how they potentially could impact seizures, either in conjunction with mainstream AEDs or by itself. Since taurine has the ability to cross the blood-brain-barrier (BBB) and it is widely recognized as being a neuroprotectant, I figured I would be able to find some significant epilepsy studies on it. However, like vinpocetine, I couldn't track down many that involved the effects of taurine on seizures that weren't animal studies, other than a lone clinical trial, that I could not find results on. I did find some interesting facts on neurotransmission and the impact taurine has on the central nervous system, which can be located here.

Taurine acts as a membrane stabilizer, particularly with voltage-gated calcium channels (VGCCs) - the article goes into great technical depth with and explanation, which I can only digest and interpret so much of before my eyes glaze over. One of the main takeaways I read in the article, was how taurine's inhibition or monitoring of VGCCs, was also the assumed mechanism of action of Lyrica. Since MIra has been on Lyrica (pregabalin) for years now, I found it necessary to explore the potential relevance. Based on this connection alone, I kept traveling down the taurine rabbit hole. Ultimately, I found a ton of information of what taurine supposedly does, in the articles listed below, but again, not a lot of direct, conclusive studies:

Based on this article, there seemed to be a lot of interest in taurine and an anti-seizure medication, back in the 1970's. All of the references for studies were all done prior to 1979. I lost interest in reading about taurine, as I found more research in animal studies, and even more studies for taurine in relation to canine epilepsy. While I found taurine as being a simple amino acid, its relevance to cell membrane functioning was complex and confusing. Based on what I read, it had a wide range of influential activity, but not really much specific to epilepsy and/or seizure control. Please email me or post links if you can find some conclusive studies or additional information.

Sunday, January 15, 2017

Quality Toy Time

Mira has been been getting her share of quality toy time today. She has been up and down most of the day and getting the toy in front of her has been a great redirection. On most occasions, she wouldn't last more than 15-20 minutes with it, but late this afternoon, she was playing with it for a solid 45 minutes, just smacking those bulbs., over and over. It's funny how we have tuned out the noise of it over the years - we sat and watched the end of the Dallas/Green Bay game with Mira sitting with us, with her just relentlessly banging on that toy. The sounds it makes just become background noise. It's no wonder those toys don't seem to last very long, as she wears them out quickly by hitting them so much. She ended up throwing it on the floor twice today - the first time, she shoved it so forcefully that she snapped the Theraband off of her tray and it went crashing to the floor. The second time, I just couldn't catch it in time as she pushed it and it twisted off of her easel. The 'major ice storm' we were supposed to get today was pretty uneventful, yet we had no chance to get outside, thus we ended up doing some walking in the house. That kept Mira entertained for awhile, but we needed the toy as well. The kids will finish up their 4 day weekend tomorrow and head back to school on Tuesday.

Saturday, January 14, 2017

New Bibs

Mira has been pretty irritable today and hasn't had interest in doing much. We have give her an ample amount of time with her toy, but she quickly loses interest in it. She also hasn't cared much for racing around the house either. Her appetite has been strong, but her fussiness level has been stronger. Just one of those days where we have a lot of fans running in the house. On a side note, Mira tends to drool a lot, especially when she is really getting into playing her toy. She keeps her mouth open when she is staring at it, which often leaves a puddle by the time she is finished playing. A good friend of ours made a series of colorful bibs for Mira, so she doesn't end up drenching her shirts. Thank you, Tisha!


I only stumbled across the potential for vinpocetine as an anticonvulsant back in mid-2016. I'm not sure how a came across it, but it was intriguing enough to research it for a bit. Vinpocetine is a chemical extract from the lesser periwinkle plant and is sold as a dietary supplement in the U.S. and actually a prescribed medication in other countries. It is known for potentially increasing blood flow in the brain and offers neuroprotective properties, based on some initial animal studies. There aren't a ton of human studies on vinpocetine, but there are a few that conclude that it did reduce cerebral inflammation, as well as decrease ion channel permeability, which ultimately affects seizure potential(s). There was another animal based study here and another one here, proving its effectiveness in halting chemically-induced EEG patterns. The supposed mechanism of action is through the reduction of calcium and sodium channel permeability. In terms of human clinical trials, there was one study completed a few years ago, but no results were formally posted.

Again, vinpocetine is widely available as a supplement, but at the end of the day, I didn't see enough evidence to warrant pursuing it as an option for Mira. I didn't see enough human trials or support that prove it might be beneficial, beyond anecdotal trials that involved chemically-provoked seizures to measure its effectiveness. If anyone had some hard data on it, I would pursue it further as a potential relief option for Mira. In the meantime, I will continue to look into it.

Friday, January 13, 2017

Coping Mechanisms

Epilepsy affects everyone in our family. Of course, the only one who suffers from actual seizures is Mira, but the path that she has been traveling on for the last 11+ years has taken our entire family down a very tumultuous road at times. We still have our joyous and happy moments as a family, but having a child with a catastrophic epileptic syndrome is often very difficult to deal with, day in and day out. Sarah, Eli, Jonah, and myself all have our individual coping mechanisms when days get rough with Mira. Trying to develop and exercise those coping skills is very important in trying to maintain balance.

Mira cries and some days, she cries a lot. In many ways, she functions at about a 2-3 month old level, which can be exhausting, when you area trying to raise a child that never really progresses beyond this stage of development. It has been the equivalent of raising an infant, for 11 years. In other ways, she does make minor progress -  progress that isn't necessarily measurable on a neutotypical development scale. Her patterns of irritability are unpredictable and you have to do your best to take them in stride. When we are noticing an uptick in her fussiness level, we typically start asking why or investigate what has changed (if anything) in her patterns, which ultimately leaves everyone frustrated, because there usually isn't an answer that we can pinpoint. There is no 'why'. There only 'is'. Mira cries and 95% of the time, we have no idea why. Eli and Jonah both ask the question, nearly every time she gets upset and I never have a tactical response that helps ease their anxiety and often, their frustrations with her.

Like Sarah and I, the boys become exhausted at times with her, which is totally understandable. We live in a small, 1,700 square foot house, that only has so many rooms to try and create distance from Mira's crying. Thus, one of our major coping mechanisms is a box fan. Ironically, box fans have had a significant impact on Mira's sleeping patterns. (You can read this very brief post to understand what I mean). Mira has been sleeping with a box fan in her room for the last 10 years, and nearly every single room in our house, has a box fan. Whenever Mira gets irritable and we have run out of options, she ends up in her bed, with a box fan going for white noise, but again, since our house is so small, the boys will revert to the kitchen or their respective rooms, and turn on their box fans. I think our family coat of arms or crest would involve a box fan. The noise is wonderful tactic to help create some background noise to help us all cope with the crying, when it happens.

Granted, when the weather is nice and time permitting, Mira loves to go on walks outside, and I am always happy to take her out for a stroll. Getting outside for a change of scenery and some fresh air, tends to help Mira's irritable disposition. However, when we can't get out, we try to do 'laps' in the house in her chair, which is the near equivalent of going for a walk outside, minus the scenery, the fresh air, and changes in elevation. Ok, it's a mediocre consolation, but at least she is in a constant state of movement, which is what she is typically craving. Since we have hardwood floors throughout the house, we developed a walking 'track' through all of the rooms, in large figure-8 pattern, from the living room, through the foyer, into the kitchen/dining room, and back again. In the thousands of laps we have walked in this pattern, I've only managed to gouge the kitchen base cabinets with her chair, on two occasions. That's a pretty solid track record, every pun intended.

Coping mechanisms can take on any number of forms in our house and they don't just revolve around Mira's irritability. Transferring, bathing, meal preparation, and diaper changing - the routines that Sarah and I do with Mira, often multiple times a day, are exhausting in itself. We often tire from the physical labor that is required of us on a daily basis, and by the time dinner is over and the kitchen is clean, we are looking for some down time just for ourselves. There tends to be a fair amount of physical coping, whether it's laying on the couch and squeezing in a nap in the middle of the day (a method I have perfected on the weekends) or just vegging out on the computer for a half-hour. It can be something simple.

When it comes to coping mechanisms in general, my attitude is this: whatever works to help maintain your physical, spiritual, and mental health, in being able to get up the next day and prepare to do it all again. Raising a child, with special needs or not, is challenging. Add to it the physical and emotional demands of a child (or children) with debilitating issues, you recognize and openly invite, those seemingly minor moments throughout the day, that keeps everything in balance, and helps maintain perspective.

Wednesday, January 11, 2017

Rett Syndrome

Being one of the more recognizable genetic manifestations in the world of epilepsy, Rett Syndrome (RTT) is often diagnosed through one of two associated genes, MECP2 and CDKL5. Mutations in the FOXG1 gene often fall under the same in the genetic diagnosis umbrella. One of the most surprising facts about the syndrome is that is primarily only affects girls, although there is inclusion criteria that can affect boys. All of the inclusion criteria for typical classic RTT are listed here, typically involving a period of normal development, that regress to a complete loss of language, purposeful hand movements, and a myriad of other neurological issues. Repetitive hand gestures often take the form of hand-wringing, clapping, or hand-rubbing. Unfortunately, seizures are quite common, thus Rett Syndrome is often synonymous with epilepsy.

Monica Coenraads, who is the executive director of the Rett Syndrome Research Trust, works tirelessly to generate research funding to drive the development of potential treatments. Her daughter Chelsea was diagnosed with Rett Syndrome. Most of the research targeted for RTT revolve around alleviating the symptoms, not necessarily focusing on a cure per se, since the genetic mutation(s) associated with Rett's are obviously permanent in nature. However, there have been clinical trials performed to help combat the symptoms, which include creatine therapy, IGF-1, and a few experimental drugs, including EPI-743, which targets specific mitochondrial functions. There is much promise in some of the ongoing studies, as some symptoms have actually been reversed in mice models.

At certain points through Mira's journey with epilepsy (back in the days of single-gene testing) several neurologists were highly suspicious that Mira had Rett Syndrome. Despite the inability to pinpoint any genetic specifics, with Mira (nothing related to MECP2, CDKL5, or FOXG1) she does have many of the hallmark features.

Tuesday, January 10, 2017

The MOAs of AEDs

One of the many questions that always came up every time one of Mira's neurologists recommended a new AED (anti-epileptic drug) was how does it actually work chemically and neurologically in helping control seizures? What is the mechanism of action (MOA) and how is going to potentially impact my child's seizures? Mira has tried many different medications, unsuccessfully, so many of the details have escaped me over the years. I can however, remember the sedating ones like ethosuximide, the horrible ones, like felbamate, and the rest simply by name, but overall, medications overall have done nothing for Mira in terms of seizure control. Researching the MOAs of these medications has been eyeopening. Simply reading through the medication product literature of many popular AEDs, the overwhelming majority of them read very similarly, and in the case of Lyrica, which Mira is currently taking, it states:

 'The exact mechanism of action of Lyrica (pregabalin) has not been fully elucidated. The current findings are based on preclinical animal models. The clinical significance in humans is unknown.'

Not exactly the sentence you want to read as you are signing your child up for one of these medications. As I have said many times before, I am certainly not anti-pharmaceuticals, as there are many out there that provide effective relief for many suffering from epilepsy. There is the right medication or combination of meds that works for that particular individual and it's refreshing to hear those stories. However, there are some meds that can have harmful, damaging, and often permanent side-effects. This list of these side effects are typically listed with the medication pamphlet, along with the MOAs. I would encourage everyone in becoming familiar with the side effects at a minimum - recognizing these effects is critical. For instance, when Mira was prescribed Lamictal (lamotrigine) we were warned by her neurologist at the time, that in rare cases, users can have a potentially fatal skin reaction called Stevens-Johnson Syndrome or in the case of Sabril (vigabatrin), there is the looming threat of permanent retinal toxicity - basically it can cause you to go blind.

Buried with all of the side-effect warnings, clinical trial data, and other relevant user information, usually is an explanation of the supposed MOA(s) of the medication. Most pharmaceutical MOAs revolve around the following actions or potentials:

GABA receptors
Voltage-gated calcium channels (VGCC)
Voltage-gated potassium channels (VGPC)
Voltage-gated sodium channels (VGSC)
NMDA receptors
Glutamate receptors

There is a decent article that can be accessed here, that offers a charted breakdown of 20+ AEDs and their assumed MOA. The only medication Mira has ever had a positive reaction to is Lyrica, thus it is part of the reason she is still on it and has continued to take it for the last 8+ years. Mira's seizures subsided for almost 6 months, within a week after starting Lyrica in 2007, which was miraculous at the time. We attributed her seizure freedom to Lyrica, but the reality is, her EEG never improved in that 6 months and eventually, the seizures came back in full force and have stayed ever since, despite numerous dosage increases and modifications. Nonetheless, I went on a research endeavor back then, trying to dig up as much information on the MOA and history of Lyrica, going so far as to contact the person who actually 'invented' the chemistry behind the drug. I emailed with him numerous times and found the process and method in which a formula ultimately reaches the end user, disconcerting. It is fairly easy to discover the supposed MOA for Lyrica is assumed to be through voltage-gated calcium channels (VGCCs), a claim which is buried in the 55 pages of prescribing information, that can be found here. The MOA and pharmacology can be located in section 12.1.

Every single medication that enters the marketplace should be offering this information to the consumer and of course, the health care professional who is prescribing it. It may seem exhausting to read, but I can assure you, the publicly available information regarding pharmaceuticals will be nothing but enlightening, if not frightening. For a more exhaustive article of the MOAs and the neuropharmacology of commonly prescribed AEDs, can be accessed here, through one of my favorite resources, the NCBI Bookshelf.

Monday, January 9, 2017

Thank You, Variety KC!

Over the past 2 years or so, we have been coming to the conclusion that we are going to need to buy an adapted van. Considering that we are currently driving an 11 year Odyssey with 100,000 miles on it, we know that our next new vehicle must be an adapted van. We started looking at vans several years ago and were completely astounded at the price. New side-entry vans start in the $45,000 range and run upwards of $65,000, which is incredibly expensive, but this is the financial reality we are dealing with. Knowing then (and now) that we could not afford the cost of a new van, we have been pursuing other options, the least expensive option being to get a lightweight adaptive stroller for the van. With her current chair weighing over 75 lbs, the strain and exertion that Sarah and I have been putting on our backs, trying to lift her chair into the back of the van by ourselves, has taken its toll. It is a task that we can no longer do with one person.

To make a long story short, I ended up throwing my back out this past summer lifting it into the van, ending up in the ER taking some serious painkillers for the next week to recover. Because of the weight of her chair, it has made it very difficult for Sarah or I to take Mira anywhere by ourselves, unless Eli comes along with one of us to help lift her chair. The idea behind the lightweight stroller was that we could use the it, instead of her regular chair, whenever just one of us has to run errands or just get around town with Mira. The stroller we picked only weighs less than 30 pounds, which can be more easily lifted by one person into the van.

So, I received some fantastic news this afternoon, from Variety KC, saying that they were going to purchase a new stroller for Mira! Variety is a fantastic charitable organization here in Kansas City, led by Executive Director Deborah Wiebrecht, who is the tireless force behind this wonderful group. We met Deborah about 6 or 7 years ago, in of all places, Costco. Mira at the time was about 5 or 6 years old when introduced herself to all of us, asking if we needed any help financially with any durable medical equipment. Ironically, we were in the process of getting Mira a new wheelchair and Deborah was incredibly helpful in getting Mira's chair paid for through Variety! We were floored by her generosity and the compassion she has, in working with children and families with special needs. She is an amazing person and we cannot thank her and Variety in helping Mira again!

Serotonin - Part 2

As I continue down the pyridoxine-tryptophan-serotonin rabbit hole, I am finding that there is a lot of prior research in this area, in regards to not only epilepsy, but also depression, autism, and a host of other neurological manifestations. There are countless articles that reiterate the connection between pyridoxine and serotonin.

One of the first articles I came across had to do with the kynurenine pathway (KP). By simulating a sort of mock-pyridoxine deficiency, this study successfully showed that tryptophan metabolism occurs almost exclusively through the KP and that a significant decrease in pyridoxine in the brain (among other areas), created an increased dumping of metabolites, including kynurenric acid, which has known anticonvulsant properties. A simple explanation would be that a pyridoxine deficiency leads to an increased susceptibility to seizures in people that have an issue somewhere along this pathway. Does pyridoxine deficiency ultimately lead to a decrease in tryptophan metabolism, which leads to a decrease in serotonin levels? Much of the research that exists indicates yes. Does this reduction in available serotonin lead to some epileptic syndromes? Again, some of the research that exists indicates yes as well. Children with Infantile Spasms (IS) have been shown to have low serotonin levels. Trying to understand exactly how, why, and where this breakdown along the pathway occurs, is the question that keeps being asked.

There was another interesting abstract I found, having to do with the Ketogenic Diet (KD), which is a century old rigorous diet used to treat children with refractory epilepsy, and its relevance to serotonin levels, before and after initiating the diet. The abstract, which can be read here, says this:

'Our study indicates that the KD significantly alters the levels of metabolites of dopamine and serotonin but with a stable ratio HVA/5-HIAA in the CSF of children with refractory epilepsy, which finding may be of importance for the mechanism of action.'

So, there is a legitimate connection between the epilepsy, autism, and depression (read this article) all of which point to a dysfunction of the kynurenine pathway. Investigating this pathway led to me obscure syndromes that I had never heard of, including hydroxykynurinuria. I am certainly not saying that this is particularly relevant to Mira (as the basis around the diagnosis involved a homozygous mutation of the KYNU gene), yet the dysfunction of the kynurenine pathway is interesting. However, in reading the health conditions related to this syndrome, many of them are very relevant.

In looking into just the subject of epilepsy and serotonin levels, there just seems to be a massive amount of literature on the KP and how it ultimately impacts serotonin and other neurotransmitters in the body - it is difficult to get my arms fully around it. If you are interested in reading more on any of this, you can simply do a search through Google Scholar for 'kynurenine pathway dysfunction and epilepsy' and your will get over 2,500 hits. For now, in trying to bring some closure to my last few posts on serotonin, I would recommend reading this article, scrolling down especially to the section entitled 'Brain 5-HT Concentration and Epilepsy'. The downloadable PDF can be found here. It is a good overview of all of the studies in the last 20+ years in regards to serotonin and epilepsy, with endless references at the end to make your head spin.

Sunday, January 8, 2017

Serotonin - Part 1

How does serotonin impact epilepsy? This is the question I have been asking lately, as I continue to look at how and why pyidoxine affects children with epilepsy. Since pyridoxine can indirectly affect serotonin (in conjunction with 5HTP or tryptophan) it only seems logical that serotonin itself might be something to consider for Mira. The question I have is whetherer pyridoxine is simply a catalyst in this process and is not directly involved in her irritable disposition when she isn't taking it.

If you simply Google 'serotonin and epilepsy', one of the first hits put you directly into PubMed territory, which I am all too familiar with. So, I read this article today and discovered some very interesting concepts that researchers in this study were asking almost 15 years ago. The idea behind this particular article was to find a connection between serotonin receptors and how they impact the onset and latency of seizures. This goes under the premise that there have been previous studies indicating that certain SSRIs (Selective Serotonin Reuptake Inhibitors) have shown to act as neuroprotectants. A few SSRIs, including fluoxetine, which Mira is currently taking, have shown to posses anticonvulsant properties, by supposedly altering the course of serotonin breakdown in the body, allowing it to more readily available to the brain and central nervous system. The irony with SSRIs in general, is that while the assumed mechanism of action is to block the reuptake of serotonin, it ultimately cannot be proven, and the exact method of how SSRIs actually function, is unknown. The assumed targets are 5-HT receptors. In terms of depression and anxiety, which is what SSRIs are most commonly prescribed for, they are clinically ineffective in 40-60% who use them, depending on what study you are reading.

One of the more interesting abstracts I have read that implicates serotonin in epilepsy, is this one. It analyzed the changes in spinal fluid on a small group of children, before and after ACTH treatment for Infantile Spasms (IS), which is Mira's original diagnosis. In the United States, ACTH is the typically the first line of defense in trying to control IS and it many cases, it is successful in stopping the spasms and improving the EEG pattern (hypsarrhythmia) of those who complete the round of treatment. In Japan, pyridoxine is the first line of treatment. If the assumption that both ACTH and pyridoxine indirectly target serotonin receptors, then the main thing to take away from this abstract is:

'These data demonstrate that the presence of seizures in infantile spasms is associated with a significant decrease in serotonergic activity and that elimination of seizures by ACTH is accompanied by increased serotonin turnover. The simultaneous increase of 5-HIAA and decrease of kynurenine, an alternate metabolite of tryptophan, suggests an underlying disturbance of tryptophan metabolism in infantile spasms.'

Can some cases of Infantile Spasms be the result of a faulty serotonin production or metabolism? Since it has been proven that tryptophan and/or 5-HTP can both effectively raise serotonin levels, it raises another question. If one of the mechanisms of action ACTH promotes, is to somehow alter the course of tryptophan metabolism and ultimately affecting the serotonin pathway, can simply providing supplementation of serotonin-altering agents be used instead of ACTH to treat IS? Those children who have certain disrupted serotonin receptors and their responsiveness to ACTH are discussed briefly in this abstract, which basically states that there is a relationship between the two, when it comes to Infantile Spasms. There is a much more in-depth analysis of the relationship of ACTH and IS here. It accentuates the point that there is a strong need to understand the importance of neurochemistry and how it impacts epilepsy, as it is complex. On a soapbox level, this article calls into question just how many neurologists need to fully recognize the importance of the neuroscience behind some of the basic neurotransmitters.

I am simplifying this relationship of the serotonin pathway and epeilepsy tremendously, but the fact that serotonin itself it synthesized from tryptophan, and the fact that serotonin deficiency is implicated so much in epilepsy and autism, it seems reasonable to think that one of the many possible causes of epilepsy could stem from either a disruption in the serotonin or kynurenine pathway, or a simple issue of having low serotonin levels. As I continued to dig further into this, it turns out that this connection has been seriously questioned for the last 30+ years. In terms of autism, the idea that serotonin has been implicated in rampant through the research, as in this article, that states:

'Serotonin, as a monoamine neurotransmitter and hormone, plays numerous roles and is a critical modulator of neuronal interaction that supports diverse behaviors and physiological processes, and acts via different specific transporters, receptors, and intracellular signaling pathways. Multiple lines of evidence implicate abnormal serotonergic signaling in psychiatric and neuro-developmental pathogenesis. However, the entire serotonin system is poorly defined and is far from a complete understanding. Laboratory analyses of cerebrospinal fluid (CSF) describe a frequency of up to 20% of patients with altered serotonin end-metabolite 5-hydroxyindolacetic acid (5HIAA) in neurological disorders, including subjects with ASD.'

Another study located here, looked at MRI changes during tryptophan depletion and ultimately came to this conclusion:

'Our results also add to existing evidence that serotonin may play a key role in the pathophysiology of autism. The brain areas that we found to be differentially modulated by ATD (acute tryptophan depletion) form part of a fronto-striato-thalamo-cerebellar network of inhibitory control that develops progressively with age (Rubia et al., 2007), and has intermediate-to-high levels of serotonin receptors and transporters (Pazos et al., 1987; Varnäs et al., 2004) in healthy populations. Further, it has previously been reported by ourselves and others that in these regions, subjects with ASD have significant differences from controls in serotonin synthesis (Chugani et al., 1997), transporters (Nakamura et al., 2010) and 2A receptors (Murphy et al., 2006).'

When Mira was first diagnosed with Infantile Spasms back in 2005, one of the names that kept surfacing in all of the parent support groups at the time, was Dr. Harry Chugani, who is now the Chief of Neurology at the Nemours Neuroscience Center in Delaware. Back in 2005, he was with the Children's Hospital in Detroit and her was looked upon as one of the leading experts in the country in Infantile Spasms. Part of his protocol for the treatment approach for children with IS, involved a PET scan, which would look at the overall metabolism in the brain. Based on the information from the scan, medical history, EEG data, and I am assuming, an extensive clinical analysis, Dr, Chugani would often determine whether or not the child would be a surgical candidate, which at the time, was a very frightening prospect for us.

Seeing Dr. Chugani's name buried in one of the references in the article was not surprising, especially when this particular article has to do with an MRI/PET analysis. Back in 2009, we had started to make arrangements for Mira to be seen in the clinic in Detroit with Dr. Chugani, but we decided not to go through with it. After talking with parents and additional email correspondence with Dr. Chugani himself, we abandoned the idea of taking Mira to Detroit and subjecting her to such extensive testing. In hindsight, I think it was the best decision, as we had already seen 4-5 neurologists at that point and the overwhelming message with Mira was the same from everyone - she is not a surgical candidate, as her seizures involve her entire brain and are not isolated to one particular area, based on all the EEGs and MRIs she had had to that point. It didn't seem logical to do a PET scan with her at the time, based on what we knew.

Anyway, as it turns out, Dr. Chugani, along with numerous other neurologists and researchers, have been using PET scans and other methods, to further understand the connection between serotonin and epilepsy. I plan on reading this article, that Dr. Chugani and his wife, Dr. Diane Chugani, published back in 2005 and will report back on it soon in Part 2.

Saturday, January 7, 2017

Introduction to Pyridoxine (Vitamin B6)

If you have read any of my posts over the years, you would know by now that I am fascinated by pyridoxine. It is the one variable that affects Mira's epilepsy, that I have come back to time and time again. Although she does not have the clinical markers for PDE (Pyridoxine Dependent Epilepsy), I do believe that this vitamin helps her tremendously. We have done a few trials with her over the years with her and they have been nothing but positive. Although the periods of seizure-free stretches and/or markedly decreased irritability that she experiences tend to be short-lived, pyridoxine does provide some relief for her. How and to what degree it impacts her is a bit unknown, but as I continue to research its mechanism(s) of action, I think it has everything to do with serotonin. She is currently taking pyridoxine and will continue to do so indefinitely. We have stopped giving it to her on several occasions and we ultimately see an strong spike in irritability within a few days. You can do a search on this blog for pyridoxine, B6, and/or P5P (which is the active form of pyridoxine) to give you an idea what Mira has tried and our experiences with the vitamin.

So, what does pyridoxine actually do? The Linus Pauling Institute gives a decent overview of it here. Basically, pyridoxine is responsible for over 100+ enzymatic reactions in the body, with its main function being to metabolize proteins, acting as the catalyst for enzymatic reactions of neurotransmitters in the central nervous system (CNS). Since the body cannot generate or synthesize pyridoxine, adequate levels must be achieved and maintained through diet and/or supplementation. I have read countless studies on the benefits of high dosage pyridoxine therapy in treating pharma-resistant epilepsy and PDE, with the only (and very rare) potential risk being peripheral neuropathy. I will refrain from putting on my tinfoil hat and spewing out conspiracy theories about the legitimacy of some of early flawed studies on B6 in the 1980's, that generated a peripheral neuropathy scare, via supposedly biased studies. I have read the studies and the rebuttals on the criticism of those studies - you can read the research and form your own opinion. Nonetheless, the risk does exist to some degree, but the symptoms typically resolve after dosage reduction.

The absolute, hands-down best synopsis for pyridoxine and PDE is written by Dr. Sydney Gospe, who is the authority on the subject, practicing through the University of Washington, in conjunction with Seattle Children's Hospital. Dr. Gospe's abstract through Gene Reviews can be accessed here. I have gone so far as to contact him with questions in the past and he has always responded in a very helpful manner. In fact, Dr. Gospe also guided me to some additional reading sources and to a registry of patients with PDE, both of which can be accessed here. PDE is one of the more extensively researched epilepsy syndromes that exists, with a well-documented and consistent treatment protocol. Positive identification of children with PDE in the absence of having the ALDH7A1 gene mutation, is somewhat difficult. Needless to say, Mira does not have any sort of pyridoxine dependency, but I am convinced she is benefiting from it, by it potentially helping to reduce homocysteine levels (which can promote inflammatory responses in the central nervous system) or by helping to increase her serotonin levels, or perhaps both. Again, there are so many additional reactions that pyridoxine is responsible for, but on a very basic level, it can help with balancing both homocysteine and serotonin levels.

There are also countless studies for B6 used in conjunction with magnesium for the treatment of autism, a collection of the abstracts for those studies can be found here. The pyridxone/magnesium therapy approach is one of, if not the most heavily researched and documented therapies for the treatment of autism. Trying to get Jonah (our child on the spectrum) to actually take a B6/mag supplement has been next to impossible, as pyridoxine by itself has a horribly bitter taste to it, which no amount of yogurt or juice will mask. Kirkman Laboratories has a wafer supplement available, but I have yet to try it - I have heard mixed reviews regarding the actual taste. Jonah refuses to take any sort of pill, so we are left with trying chewables or gummies, none of which we have been successful with getting him to try more than once. I will post more soon on the epielpsy-serotonin-pyidoxine-autism connections I have been researching lately. It is all very fascinating.

Mira had a really good day today - she had a ton of energy, despite not being able to get outside (it was 8 degrees this morning and didn't get much warmer) she was doing a ton of kicking. Kicking in her chair, kicking the walls in her bed, and kicking her feet the entire time she was moving inside. She also had some quality time with her toy, periodically looking outside the windows at the piles of snow everywhere. She wasn't irritable at all today - lots of smiling and just being content taking it easy around the house.

Friday, January 6, 2017

Late Christmas Gifts

Some of my co-workers surprised me this week with a very nice gift for Mira. They all got together and ordered Mira some soft blankets for winter. It was such a thoughtful gesture - then even had all three of the blankets embroidered with her name on them. Yesterday evening, I put one across her lap while she was in her chair. She slowly stretched her legs outward for about 20 seconds, then pulled her legs, with the blanket, up toward her and started to grasp at if with her hands. She kept looking off to her left side, giving this funny smile as she was rubbing her hands across her knees with the blanket - I think the blankets are a success!

Wednesday, January 4, 2017

Catastrophic Epilepsy

The word catastrophic tends to evoke a lot of different emotions, but usually carries with it a negative connotation, as we commonly hear the word in conjunction with some sort of natural disaster or an economic collapse. Prior to have a child with significant special needs, I would have never to thought to use the word in the same sentence as my child's name. I remember first hearing the term being used in the context of epilepsy, from one of Mira's neurologists about 10 years ago, and the word has stuck with me ever since. Little did I know that the word had long ago been adopted by the epilepsy community. Epilepsy can be catastrophic, especially in the developing brain, when it is basically in a state of constant plasticity for the first several years. Infantile Spasms can be catastrophic, if the seizures become uncontrollable, and morph into Lennox-Gastaut Syndrome or some other syndrome, as they did with Mira. The seizures themselves often become intertwined with a myriad of other symptoms, affecting numerous systems in the body, from the brain, to the central nervous system, to the endocrine system.

There is a great overview of the catastrophic epilepsies, written by a pediatric neurologist from UCLA (at the time of publication) that can be downloaded here. It is a brief synopsis of the more 'common' syndromes, including West Syndrome (WS or more commonly referred to as Infantile Spasms or IS), Lennox-Gastaut Syndrome (LGS), and Dravet Syndrome (often referred to as Severe Myoclonic Epilepsy in Infancy or SMEI) and a few lesser know syndromes. Ironically, Mira has been diagnosed with all three of the syndromes, each at different times, by a different neurologist. All are very similar in nature, but are often defined by age of onset, seizure type, EEG pattern, and sometimes, etiology.

Mira has never truly had seizure control, thus her epilepsy has evolved into different seizure types, including infantile spasms, myoclonics, tonic-clonics, and any combination thereof. Infantile spasms ultimately progressed into full-blown tonic-clonics around 2 or 3 years old and what came with that, was a diagnosis of LGS/SMEI at the time. At one point, one of her neurologists swore that she had Angelman's Syndrome, yet a genetic screen, which would have identified the deletion, mutation, or mosaicism of the gene UBE3A, ruled that out quickly. At another point, Mira seemed to be a strong candidate for Rett Syndrome (RS), which is one of the more common genetic issues that effects only girls. Despite not finding the recognizable genetic markers through the CDKL5 and MECP2 genes, Mira still has nearly all of the characteristics and symptoms of RS. One of her former neurologists had gone so far as to say she has Atypical Rett Syndrome. No definitive genetic marker, yet all of the symptoms.

However, through a whole exome screen, there was a mutation found with one of Mira's genes, called TPP1, which is a gene responsible for making an enzyme called tripeptidyl peptidase 1. Mutations and issues with the TPP1 gene are often associated with Neuronal-Ceroid Lipofuscinosis (NCL). Since Mira's mutation is a heterozygous mutation, meaning she still has one functioning gene, the theory is that it may or may not be the cause of her condition. However, in reading extensively on NCL, I have found that both homozygous and heterozygous mutations can be responsible for the dysfunction in the TPP1 gene. I haven't really read a convincing explanation that fully explains NCL, as the diagnosis can be clinical, not simply based on genetics. Mira meets all of the criteria and symptoms for NCL, only a skin biopsy, performed in 2016, failed to reveal the typical skin/storage marker(s) for NCL. Clinically, she meets all of the criteria for NCL, including severe myopia (-10.00 in both eyes, she is extremely nearsighted), seizures, ataxia, motor function impairment, and myoclonus, but the biopsy states otherwise.

With all of the advancements in genetics and testing, it is still very difficult to pinpoint the cause or etiology of any one of these catastrophic syndromes, as it often tends to be much more complex puzzle. While some syndromes can be traced back to a non-functioning gene, others are the result of a series of different bodily systems that are not working in unison or are simplistically put, imbalanced. Such is the case of autism and Autism Spectrum Disorders (ASD). Some children who are diagnosed with epilepsy are often given a secondary diagnosis of ASD, based on overlapping symptoms. There is a very general and rudimentary introduction to those coexisting conditions explained here, through the Epilepsy Foundation. For a more exhaustive and historical read on epilepsy and autism, you can find that here. Autism in itself can be catastrophic and when combined with the damaging effects of epilepsy, it can be truly devastating. 

Monday, January 2, 2017

The New Year - Turning the Page

I was flipping through Facebook yesterday afternoon, passively watching the Chiefs finishing their last regular season game (and clinching a first-round bye, thanks to Oakland's loss) when I stumbled upon a friend's posted picture. There was no caption, but only this:

I thought it was a simple, yet powerful message that everyone has a story to tell. Everyone is subconsciously writing a novel in their head, every day being a new chapter. It seems arbitrary when we always choose to dog-ear our inner autobiography with the flipping of another digit in the calendar, but nonetheless, the idea stuck with me the remainder of the Chiefs game and up until I went to bed last night. We all understand that life events realistically occur at completely random points in time and at any point along our traditional 12 month cycle - the birth of your child, the day you were married, the day you got to the 5th key on Pac-Man way back in 1982, or whatever that point in time was where created a fundamental shift in your life. A day of awakening in a sense. Finding this image in the endless stream of midnight Facebook posts of family, pets, or drunken debauchery, wasn't an awakening by any means, but it did get me thinking.

Mira has written a lot of pages in her book, only I wish we could actually read them. She has been battling with epilepsy since she was 11 weeks old and has been living in a constant state of solitude in a sense, where she cannot communicate her wants, needs or desires to anyone. She has moments of happiness, grief, and pain, but it is difficult to understand why, what, and how she feels at any given point in time. As the New Year today brought another rough day of seizures (a huge tonic-clonic about 2 hours ago after having countless intense myoclonics all day) her ability to be able to write a single page in her book, drifts further out of reach. We have slowly come to the conclusion over the years, that Mira's life will not change much from here on out - it has altered its course very little in the last 11+ years and most likely, will not dramatically shift paths. Her blog may seem redundant and full of trivial things that happen throughout her day, but it is the best attempt at being able to communicate her story, a page at time.

This image and the idea of personal story telling resonated with me, since every one of us has a story - we are mere observers in others' lives online and we only skim the surface of understanding. Facebook and other social media sites highlight this basic idea - we only know others' stories by their pictures and rarely do we truly understand what stories they have to tell. I belong to a plethora of support group on Facebook in particular, (prior to that it was the Yahoo health forums back in the 'early' days of 2005) where I  read countless personal stories of kids and families dealing with epilepsy. It is heartbreaking and encouraging at the same time. Parents are able to post videos of suspected infantile spasms, Mira's original diagnosis, and in the process, cast an extremely wide net, chocked full of opinions and support from parents who are currently dealing with the same issues. That immediate feedback is critical for kids and families dealing with epilepsy. It's that ever-expanding global reach that the internet offers, that I took for granted when Mira was first diagnosed back in 2005. We are now privy to the endless amounts of accessible data, information, and support we can find online now, a dozen years later from when we started this journey with Mira.

I want to be able to continue to tell Mira's story, but also to elaborate on other parts of her story, in an effort to potentially help others who may be struggling with the same issues we deal with as a family. We have three children - one child with uncontrollable epilepsy (Mira - 11), one child on the autism spectrum (Jonah - 8), and a third child (our oldest - Eli, who is almost 14) who has his own issues. Some of it could be chalked up to just being teenage angst, but some of his behavior could be something else - it is difficult to put a finger on, but it exists. This isn't about labels, but rather about support and guidance. All of the neurological issues that our children deal with, stem from somewhere or something, and include Sarah and I as parents. Recognition of this neurological 'flux' set me on an endless researching journey years ago, to the point that I have read and logged a considerable amount of research on the subjects of epilepsy, autism, and an understanding of neurological mechanics. I'm not looking for a 'cure' specifically (since I believe one does not truly exist, as neurology is vast and complex) , but more of an understanding of why, what, and how this occurs in our family, and how we can continue to function and thrive with it. There are parents out there dealing with the same issues we are. Some of those same parents are reading, researching, and contributing to the dialogue. Their support is invaluable. This is not to discredit any medical advice that we have been given in this journey, but rather to embellish upon it, with what I have discovered through research.

That being said, the pages and posts in Mira's book for 2017 will look a little different from here on out. I want her blog to continue to be an update on Mira and our day to day life, but I also want it to be a potential resource for parents who are dealing with epilepsy. I will be sharing a lot of technical links that I have discovered and researched over the years, hopefully shedding some light on how they potentially relate to not only Mira and our family, but to any other family who might be looking for answers and support.