Sunday, September 3, 2017

I'll Have the Burnout Platter, with a Side of Zinc

I have to admit, after a huge project workload being dumped on me toward the middle of July, mixed with school starting in mid-August, and now a mother-in-law in the hospital with a kidney infection, I am completely burned out. Some days it feels like we are running a clinic or a small ward or frankly, I don't know what to call it. It's our lives and often, it is overwhelming. Some days it feels like a constant barrage of relentless tasks, on the most simplistic level, just to take care of people so they are fed, clothed, and functioning. Then there is trying to assess the mental symbiosis of everyone in this family, which is a monumental effort some days. Perhaps it is simply this time of year. School starting back up is always a challenge - different teachers, new schools, changing bus routes and schedules, and getting back into a rhythm in general, takes its toll on the kids, as well as Sarah and I.

First there is Mira. Mira's seizures have have always had an ebb and flow, their presence creating rough patches at home and at school, where she has multiple seizure days, mixed with days of dystonia. We have not made any medication or supplement changes other than adding a small dosage of zinc (refer to the Jonah update below) to her diet, which seemed to have a negative effect on her eating in the morning. After a few weeks of starting the zinc, she started refusing to eat anything in the morning - it became an enormous struggle just to get her to drink anything, even to take her actual medications. At a certain point, I think we realized it was probably the zinc that was affecting her appetite in the morning, for whatever reason, so we ended up reducing the dosage this past week. The reduction seemed to help her gain at least some of her appetite back - the entire time she was eating fine at school and we never heard of the frustration or struggles we were experiencing at home, especially in the morning. Hopefully, we have found a balance now. The effort is just to try and keep her comfortable and entertained, through walks, her toy, and activities at school. That in itself is physically and emotionally draining.

Then, there is Jonah, who has been a tornado the past few weeks. With school starting back up and lots of changes for 3rd grade, he has been struggling with separation anxiety, increased stimming, and overall increased ASD behavior. I made the mistake of starting him on a zinc supplement also, which after extensive research - see below) I thought was a good idea. This all backfired the first week, where Jonah was sent home (or stayed home) from school twice in 5 days, for vomiting. The first time he threw up was in the back seat of the car, where we pulling into the parking lot for drop off. I thought this was just an isolated case of the notorious and all too familiar 'welcome back to school stomach virus' we have been through many times before, but when the same scenario repeated itself three days later in the nurse's office, I feared my zinc supplement was most likely the culprit. Needless to say, we stopped the supplement and the ASD behavior continues, in full form, not that he was on the zinc long enough to see any positive results to begin with. Sarah had to go back to the hospital for the day to stay with her mom, which in turn disrupted Jonah's 'schedule' or whatever expectation he had for how the day was going to unfold, as he erupted into a 30-minute tirade of screaming, yelling, kicking the door, and repetitive, exhausting gesturing and finger-pointing at the driveway for her to immediate return. When he regresses into this intensely focused, erratic behavior, everything goes out the window - there is no response that will alter his state of mind. There is no redirection - he is completely fixated on what he wants. There is no rationalization. There is no logic. Welcome to autism.

And finally, there is Eli, who has been a saint for the last month. He has had his hormonal ups and downs, but overall, he has been going with the flow, taking his brother and sister in stride, and the nuances of our family dynamic, as best he can. I know that living with two siblings has affected him in more ways than we can count and all I can do is hope, that at the end of each day, he doesn't feel resentment. He has been robbed of so many things - a 'normal' relationship with his sister and brother, a simple outing to dinner as a family that doesn't end with someone in tears, or for that matter, the idea of a family vacation. Ironically, the reason for researching zinc so much over the past few months, was because of Eli. He is 14 and his skin is erupting with acne, as my skin did when I was his age. I desperately do not want him to go through the frustrations and anxiety I suffered in dealing with terrible acne in high school. Thus, I began to research treatment options, while getting him into see a dermatologist. He began taking a zinc supplement and has been doing great with it - no issues whatsoever. He is also taking doxycycline, as prescribed by his dermatologist. Hopefully it will improve his skin.

For whatever it is worth, here are some of the zinc links:

I tend to research a topic heavily before ever trying a supplement and with the few that I have tried over the past couple of years, and after all of this research and reading, none have had a positive impact on anything, with the exception of pyridoxine with Mira. For years, it has been impossible to even get Jonah to try to swallow a vitamin (besides a chewable gummy multivitamin), so when he finally agreed to try and take one a month ago, it completely backfired and made him nauseous.

It makes me lose all hope that anything will help lessen the pain of epilepsy and/or autism. There is no magic bullet. There is seemingly, no answer.

Saturday, July 15, 2017

New Glasses

Mira had an ophthalmology appointment a while back and we just now got her into the eye doctor a few weeks ago to get her fitted for new frames, based on her new prescription. Her vision had only changed slightly over the past 12-18 months, so it wasn't super critical that she immediately get her updated lenses. Her vision is still very, very poor - she has significant myopia, in the +10.50 range in both eyes, thus her lenses are fairly thick around the edges. Frame selection is always fairly important, in order to try and hide the thickness of the lenses. We went with a slightly smaller, but rounder frame, that seemed to stay on the bridge of her nose better than the last pair. Mira did a fair amount of scanning for the first 20 minutes she had the new frames on, but after that, she was back to her usual focus. She kept giving me these skeptical looks when we first arrived back from the eyeglass center - thus the funny looks in the pics above.

Thursday, July 6, 2017

Back to Baseline

Mira was back to her usual self by this morning. It was easy to tell that she was doing better - her hands and feet weren't clammy, she showed some brief interest in her toy, but mainly we could tell based on her appetite. She drank 3 bottles this morning in succession. She had a fairly smooth rest of the day and her appetite continued, until dinner time, where she was a little irritable, probably because she was still hungry after a few bottles - making up for lost time from yesterday, where she only drank a single bottle all day long, because of the dystonia.

Wednesday, July 5, 2017

More Dystonia

Mira had a rough day today. This morning she wouldn't drink anything and seemed a little off at breakfast, which is usually a sign that something is brewing. Sure enough, by mid-morning, she was in full-dystonia mode, complete with clammy hands, sweating, rigid legs, and an altered state overall. Her disposition didn't change much over the course of the day and we could not get her to drink anything the entire afternoon. Finally, the dystonia seemed to relent about bedtime and she managed to drink a bottle, albeit very, very slowly, right before she went to bed. She was very twitchy all through this, similar to what she was dealing with just a few weeks ago, minus the tonic-clonics. Maybe it's just my imagination, but these episodes are becoming increasingly common with her.

Friday, June 23, 2017

Dystonia Days

Mira has had a few more episodes since the beginning of the month - her typical days of heavy dystonia, intense seizures, and lethargy. She started school last week, which seemed to break the cycle of her having these episodes, but she then had another at the end of last week. We have been getting out for walks quite a bit, but Mira has started to relentlessly rub her eyes again every time we are outside. Sarah was out with her in the van earlier this week and Mira pulled glasses off and threw them on the floor, which is not uncommon. After that, she would not stop rubbing her eyes, which prompted Sarah to pull the van over to put her own sunglasses on her to keep her hands off her face. We thought she had stopped this awhile back, but with the intense summer sun, we are back to developing strategies for shielding her eyes.

This past week she has been fairly quiet, taking some long naps in the afternoon. She has been having a ton of myoclonics throughout the day, which are startling, since they happen so randomly and are impossible to prepare for. Her appetite has been decent and her temperament has been tolerable as well this past week, which is great, since we are gearing up for a day road trip on Sunday. Jonah is really excited about going to the Eisenhower Museum in Abeline, which is a straight shot down the highway for us, about 2 1/2 hours away. Jonah has been talking about it for months, right after we went to the Truman Library here in Kansas City. Hopefully, Mira will be in good spirits for the ride.

Friday, June 2, 2017

Rough Thursday

Yesterday, Mira had one of those days - tons of seizures and full of dystonia. She started off the morning by having a fairly intense seizure, which didn't quite evolve into a full blown tonic-clonic, but we could tell something was brewing. She managed to to drink one bottle before going back in her bed, but soon after that, things went downhill. She had 3 involved tonic-clonics, each about an hour apart, then became extremely distant and unresponsive, complete with clammy hands and feet - a very typical bout of dystonia for her. Sarah ended up giving her a round of Diastat later in the afternoon, after her third tonic-clonic, in order to break the cycle. The Diastat worked, as it ultimately stopped the seizures she was having consistently every hour prior. She ended up being out of it the rest of the afternoon, not managing to eat much until bedtime, where she finished 2 bottles, very slowly. By this morning, she had rebounded very well and had a enormous appetite after not eating much at all yesterday. She has been sleepy most of the day, which is expected, after such a rough day yesterday.

Wednesday, May 31, 2017


One of my favorite subjects is vitamin B6 (pyridoxine) which has proven to play an vital role in the world of epilepsy and autism. Not only has pyridoxine been heavily researched and documented, it has an impact on Mira's temperament and to a certain degree, her seizure activity. We have gone through many trials with pyridoxine, ultimately deciding to leave her on a regular dosage of it, since last August. It is difficult to pinpoint exactly why and how pyridoxine helps her, since it is a complex vitamin that performs so many different enzymatic functions.

Hence, this question of why, is what fuels my continual research into pyridoxine and its relationship to epilepsy. Years ago, when I first read about Pyridoxine Deficiency, I was astounded to learn that the lack of a simple vitamin could be the root cause of some cases of catastrophic epilepsy. Biotin, folic acid, and a few other basic vitamins are also implicated in epilepsy and autism, which there are plenty of case studies and research to support such claims. However, pyridoxine deficiencies, dependencies, and connections to seizures have always been a focus of mine personally, since again, they help Mira in some capacity.

About a month ago, I was looking for additional pyridoxine/epilepsy connections, beyond what I have found in the past (PDE, homocystinuria, etc.) and discovered something I had never heard of: pyroluria. As it turns out, pyroluria goes by a host of different names, including pyroluria, pyrroluria, pyrrole disorder, kryptopyrroluria, hemepyrrole, Mauve Factor, malvaria, and more recently, HPL (hydroxyhemopyrrolin-2-one). First of all, why so many different names? That question led me down a serious rabbit hole of interesting research that dates back to 1929. But first things first.

What is pyroluria? The concept behind pyroluria seems to be pretty straightforward, however its relevance and prominence in mainstream medicine is very elusive, possibly because it is called by so many different names. I can't remember where exactly I first read about the term pyroluria, but a quick Google search led me to Wikipedia's excerpt on orthomolecular psychiatry, where it describes pyroluria, hystadelia, and histapenia, which are two other 'syndromes' I had never heard of. I was instantly hooked on where all of this was headed, so I started to dive deeper and ended up at a website called and its associated medical publication, entitled the Journal of Orthomolecular Medicine. In all of my years of reading, I had never heard of any of this, which required me to have a history lesson before I went any further.

Before we start talking about pyroluria, let's step back and ask a more important question: what is orthomolecular psychiatry or orthomolecular medicine (OM)? It is a branch of alternative medicine that believes that the root of many diseases is an imbalance or deficiency of nutrients, specific to an individual's biochemistry. You can get a brief overview of OM here, taking Wikipedia (or any other open-source forum for that matter) with a grain of salt. I focused in on pyroluria in particular, which ultimately led me to Carl Pfeiffer's article on schizophrenia - Pfieffer being one of the 'founders' of OM research. His article focused on the relationship between pyridoxine, zinc, and manganese and schizophrenia. 

Initially, the researcher in me was interested in the medical background of pyroluria, but the skeptic in me kept a close eye on how and where all of these studies on this relatively obscure syndrome, were stemming from. This particular article on schizophrenia was published in, along with nearly all other articles having to do with pyroluria, the Journal of Orthomolecular Medicine, which is not a mainstream publication. It is more of an isolated 'fringe' collection of studies and abstracts by a core group of biologists, chemists, researchers, doctors, and other relevant contributors, all working toward a common theme that revolves around the principles of OM, at least that is the way it is described by critics. Much of the criticism for these types of alternative medicine publications is redundant. Rejected by mainstream medicine, these researchers chose to start their own exclusive collection, collaborating only internally, within their own 'bubble', which ultimately means one should discredit most, if not all of this type of research, since well, it's not actually considered 'real medicine'. At the end of the day, I kept reading simply out of curiosity.

As it turns out, Carl Pfeiffer wrote an entire book on the subjects of pyroluria, histadelia, and histapenia, which can be downloaded here. It's an interesting overview of the research and extent that Pfeiffer and his colleagues had gone to investigate and implement their therapeutic approaches, offering up some cheesy cartoons for comic relief along the read. I was interested in pyroluria, so initially skimmed ahead to page 139, which didn't go into a whole lot of detail, other than some anecdotal information on symptoms, which could honestly be attributed to a host of different syndromes or situations. Pfieffer has written two other books, both centering around the idea of OM and the treatment of various ailments, neither of which I have read.

I did however, go back and read some of the other chapters on copper toxicity and ironically, homocystinuria, both of which have to do with pyridoxine and zinc, of which Pfeiffer and others have used extensively as therapeutic agents in their studies. Copper toxicity and ASD have been the focus of countless studies in the last 20 years, including this one, another one here, and yet another one here. Much of the research that Pfeiffer (and others prior to that, since the late 1920's) has some validity in contemporary, mainstream medicine, only the identifiers and names are perhaps different. Zinc for instance, is a strong copper antagonist and does have some significance in creating a proper zinc/copper/manganese balance in the body, at least from what I have read.

After absorbing as much as I could stand regarding the concept of pyroluria (and considering I initially started on this journey reading about other pyridoxine connections) I have mixed emotions about all of it. The relevant historical research that attempts to establish a connection between pyrroles (which some claim to not even exist), epilepsy, and autism is somewhat vague and isolated to a handful of articles, beginning in the 1950's. Perhaps this is due to the lack of real examples (Pfeiffer only offers 1 or 2 patient cases in his book) and the absence of controlled studies on the subject. Perhaps the understanding of pyroluria was merely in its infancy, with Pfeiffer being limited by the technology and resources accessible at the time. Perhaps pyroluria goes by so many different names, that the spectrum is so vast it is difficult to pinpoint a particular study that encompasses all of these early ideas. There are some legitimate associations between mineral toxicities and zinc/manganese/pyridoxine therapies that are recent and relevant. Ironically, some of the current research references the early works of Pfeiffer, Hoffer, O'Reilly, and even contemporary pyroluria researchers, including Dr. Dietrich Klinghardt, who continues to beat the drum for those who are willing to listen. 

I have just been diving into this over the past month and will continue to read more. If you are interested in getting an overview of pyroluria, which is referenced as the Mauve Factor in these articles, I would encourage you to read the following two part series and form your own opinion on it:

Happy reading and I will post a follow up on this soon.

Monday, May 29, 2017


Over the past 11 1/2 years, I have ventured down countless avenues in regards to epilepsy and autism. The process of researching anything can be overwhelming at first, but when you get to the root of an issue or idea, there are usually extensive references to back up specific claims or concepts of any given article. This is particularly true when it comes to medical research. Some of the full length articles I have read over the years have lengthy references, averaging 50-100 individual references per article, noting past writings and/or studies that were documented, that relate to a particular statement within the article at hand. Buried within the references are a plethora of additional research (depending on what you are actually researching), often leading me down a further rabbit hole, but on occasion, guiding me to further either reinforce or dismiss an idea that might be relevant to my family.

However, internet-based research is a minefield, full of hidden agendas, inaccuracies, and just blatant falsehoods. Let's just take the idea of zinc, which coincidentally, I have been researching exclusively over the past month. In the past, I've read a considerable amount regarding homocystinuria, Neuronal Ceroid Lipofuscinosis (NCL), pyroluria (which is a long future post in itself), the history of schizophrenia, and a host of other pyridoxine specific disorders, some of which directly involve dietary minerals, particularly zinc, manganese, and magnesium. If you read this article, albeit which is very brief and not all that informative, there is a reference (reference number 4) to the statement:

'Zinc deficiency has been found in infants with autism spectrum disorders. Some patients with autism may have immune dysfunction, an zinc is sometimes given to enhance immunity. However, the Autism Treatment Network's supplements study found that many children may be receiving too much zinc'. (4).

Granted the title, 'An Unofficial Guide to Autism Supplements' sums it up fairly well, thus my skepticism goggles were fully focused. It was the last sentence that caught my attention, since it went against everything that I had read in the last few weeks prior. If you follow through to the actual referenced article, which is located here, (it can be found in a host of other locations) you will note that it says absolutely nothing about the Autism Treatment Network, nor anything about children receiving too much zinc. In fact, of the 50+ articles and abstracts I have read in regards to zinc deficiency, I have not read anywhere that zinc toxicity was an issue, in any of the controlled research thus far, in fact, the exact opposite has been documented. There is actually considerable research linking zinc deficiency with Autism Spectrum Disorders (ASD) and some studies going so far as to establish an association of the severity of symptoms with the extent of zinc deficiency. These inaccurate and misleading references are rampant on the internet. The reference actually belongs after the first statement, here:

'Zinc deficiency has been found in infants with autism spectrum disorders. (4). Some patients with autism may have immune dysfunction, an zinc is sometimes given to enhance immunity. However, the Autism Treatment Network's supplements study found that many children may be receiving too much zinc'.

Whether it was an unintentional mistake or not, everything after the first statement is opinion. Personally speaking, opinion to me, often translates to mean 'agenda'. I tend to work backward and revert to the origin of the root article, which in this case, is hosted by the Pharmacy Times, which may or may not have a professional or financial interest in investing in OTC remedies. Taking another step backward, I looked at what the actual Autism Treatment Network (ATN) actually is, since it is obvious that the ATN is not part of the actual article referenced. As it turns out, the ATN has a long history of merging with other support/advocacy groups, including Autism Speaks, now falling under the umbrella entitled the National Autism Network, which on the surface, appeared to be just a provider directory for autism therapies.

Having never heard of ATN and its statement regarding zinc, I decided to try and understand who this group is. They appear to operating out of an unassuming corporate office park in Cary, North Carolina, offering an extensive national database of medical and therapy providers, which is certainly valuable for families new to the world of autism. After some additional digging, I was able to find some of the ATN's research on bio-medical therapies within their website, which makes no reference to 'children receiving too much zinc'. Going a step further and looking at their actual references, most of the articles are opinion-based links, with very few actual clinical references to anything. I wasn't impressed with the quality of references from the ATN and the fact that nowhere on their website is their any mention of their original statement as quoted on the Pharmacy Times, there isn't a whole lot of credibility with such groups, in my book.

My point is with all of this is when doing research, I always try to follow this simple protocol.

1. Do your homework. Follow up on links and references. Read multiple articles and find multiple perspectives, both positive and negative. Research anything that you might think is relative, but always follow up on the references. Articles tend to make broad-reaching generalizations, that often are unsubstantiated or simply not true. There are lots of opinions and you must carefully navigate which is which.

2. Be skeptical. I try to keep an open mind with everything I research, but at the same time, cautious of being overly optimistic or biased in my reading. For nearly every point, there is a counterpoint that is equally reputable. I try not to let emotion guide my reading and I always am skeptical in the sense that I feel that many articles are simply biased - some of what you read has a hidden agenda. I'm not sitting around wearing a tin foil hat, but rather being conscious of where the information and data is coming from.

3. Take a break. I read something almost every evening, which often leads to researching a particular subject to the point where I feel like I can form my own perspective on it. Investing so much time often gives me tunnel vision, without thinking of the counter to a particular subject - the best remedy I have found is to step away, get some perspective, and come back to it in a few hours, a few days, or a few weeks.

4. Bookmark, log, and/or archive your findings. I have been using this system for the past 5-6 years and it has been extremely helpful, as I tend to go back and look at certain articles I have read in the past that relate to what I am currently interested in.

If you want to read all about zinc and its connection to autism spectrum disorders, I would recommend the following articles:

Zinc and Its Importance for Human Health
Analysis of Copper and Zinc Plasma Concentrations in ASD
Infantile Zinc Deficiency: Association with ASD

Sunday, May 14, 2017

March + April Update

These two pictures accurately summarize what has been happening in our world over the past two months. The creeping of March and the insanity of April. In the upper pic, you can see Mira slowly slouching in her chair, trying to slither her way to somewhere, out of her current position - whether she is uncomfortable, restless, or just wants to move - we are really never sure what she is trying to achieve when she does this. She does it at home, at school, in the car - pretty much everywhere.

Whatever the case, Mira's desire to creep out of her seat is how we all felt, trying to just get out of March. With no spring break plans and everyone getting stir crazy from the tail end of winter, I think we all needed a change of scenery. There wasn't anything particularly eventful about March, it just crept by at a snail's pace, simply because we didn't have a travel agenda for spring break, so there was nothing to gear up for, nothing to pack for, and nothing to really look forward to, except for well, April and warmer weather. Mira does not travel well and the boys were not interested in really going anywhere, so we decided to have a low-key spring break, which meant trying to occupy the time without going insane being at home.

We managed to get through March, but it seemed as soon as April hit, everything shifted into high gear. I had to do a ton of traveling, mainly to Virginia and Massachusetts, which was difficult on Sarah. Adding to that, I don't think the kids had a full week of school in March or April. The slouching led to full-on fidgeting, and nearly ending up on the floor. I managed to juggle my work schedule around Mira's appointments, having to take some time off to go to some of them - ultimately it gave Sarah a much needed break from trying to do 12 things at once, while I was out of town for a majority of the month.

One of those appointments, in the middle of April, involved Mira getting an ERG, which is an electroretinogram, ordered by her ophthalmologist at her last appointment. The reason for the test was two-fold: first, Mira's vision is extremely poor, thus it was a precautionary measure to see if there are deeper underlying issues with the structural integrity of her eyes and second, because of Mira's very high myopia, her heterozygous mutation of TPP1 (and possible connection to NCL) the rationale was that an ERG may also reveal any clues to her having some NCL-like symptoms that might surface from the test.

I was very optimistic for the first half of the appointment, where they had to dilate Mira's eyes - the pics above were her in the waiting room, as we were waiting for the dilating drops to take effect. Mira was all 'dragons' and smiling a ton. Unfortunately, the second part, the actual exam, did not go so well. Mira became restless and irritable, as we had to stay in a room in completely darkness for about 20 minutes, so the eyes could fully adjust for the ophthalmologist/specialist could perform the actual ERG. Mira's last ERG was about 8 or 9 years ago, where she was being monitored for retinal toxicity while on Vigabatrin. The technology since that time has changed and the ERG can now be done without sedation, with a handheld device held over each eye. Not having to go through sedation is great. However, Mira did not have the patience, even for this non-invasive exam. It took all of my physical strength and the assistant's strength to hold her still while the specialist tried to get a decent reading for each eye. This process of trying to hold Mira's head still, in complete darkness, with her crying, trying to push her way out of her chair, for 20-30 minutes, was incredibly exhausting. Mira did not want any part of this and had checked out as soon as the lights were off. By the time we were done and back in the daylight, she was back to her pre-exam attitude, making dragon noises once again in the van on the way home. It was an exhausting experience and ironically, that was almost a month ago and we just received the results last week, which were normal. The good news is that there are no structural or degenerative issues that surfaced from the exam, yet her extreme myopia is still a mystery.

Our second appointment was just this past week, with endocrinology. We had a discussion at our last appointment with her endocrinologist, which was about 6 months ago, about stopping Mira's Lupron injections. We collectively decided to go ahead and stop them now, as Mira is almost 12 years old, which is more of an appropriate age for her to start puberty. The rationale for starting the Lupron injections in the first place, was to delay the onset of puberty, which Mira was showing signs of, at age 7 or 8, which is extremely early. We don't know why her endocrine and hormones are so out of whack - just another side effect of having a catastrophic epilepsy I suppose. We think it is the right decision to go ahead and let things run their course finally, although we have some trepidation as to what we should expect once her last injection begins to lose its efficacy. I have read and heard that some kids have a significant spike in seizures, with all of the hormonal shifts that tend to happen in puberty. Only time will tell.

Other than these two recent appointments (and one with neurology next week) it has been quiet in terms of Mira's diagnosis, medication changes, or anything medically speaking. We have not made any medication shifts with anything - she is still taking Lyrica, Fluoxetine, and pyridoxine, with the latter two helping with her irritability. We only added an iron supplement to potentially help with her fatigue. In terms of her disposition and demeanor, not much has really changed in the last few months. She has had good days and bad - Easter being a particularly bad day for her, having multiple intense tonic-clonics that made her very irritable and dystonic, which led to she and I staying home while Sarah, Eli, and Jonah went on an Easter egg hunt at a friends' house. She has had several bouts of dystonia over the past 2 months, complete with rigidity, seizures, and an altered, distant disposition we tend to see with her, lasting no more than 24 hours for each episode. She also had a few days where she was very quiet, wanting to just lean forward in her chair, hands over her ears, trying to seemingly shut everything out, just like in the picture above. And of course, we have had those days of inconsolable crying, where nothing makes her happy. After almost 12 years of this epilepsy journey with Mira, we never no what to expect.

Monday, March 6, 2017

Passing the Baton

It's been a tumultuous few days here, with the brunt of the craziness happening late this afternoon. Mira has been having some rough seizure days at school and at home for the past few weeks. Last Thursday, she had three tonic-clonics at school, all within a half hour or so, which is the second myriad of clustered seizures she has had in the last few weeks. She also had another episode yesterday at home, where she had an intense tonic-clonic, which made her very lethargic and irritable the rest of the day. This morning she seemed to be feeling better. Although, I snapped a few pics of her, since she had this very skeptical look on her face, as though she wasn't sure what the day was going to bring. Funny thing is, neither did I.
The day started off with her bus having hydraulic problems, which they parked right in front of the house, but ended up ordering a replacement bus to show up, which took about 45 minutes. Mira ended up back in her bed until the new bus arrived, as she tends to get impatient and cranky in the morning when her routine is off. Despite the rough weekend, she had a decent day at school, no seizures or activity, but she did have some bouts of irritability. The real fun began about an hour before I came home from work.

Not to go into any great detail, as the story involves a lot of poop, but I will just say that Mira had an 'episode'. Keeping Mira regular is always a challenge, with a majority of the struggle ending up on the constipation end, but today, we had the exact opposite problem. When this happens, it quickly becomes a two person job and unfortunately, Sarah had to fend for herself as I was still at work. Diaper changes and the aftermath of a blowout can be traumatic, exhausting, and of course, extremely messy. Thirty minutes and some seriously soiled laundry and bedding later, Sarah had reached the tipping point by the time I got home. Mira was extremely irritable too, since she was most likely hungry after seemingly evacuating her system, based on the amount of cleanup that was involved. Sarah simply 'passed the baton' and took a much needed break by getting out of the house for an hour. Mira continued to cry until I could get 3 bottles in her and got her in the bath.

Caring for Mira is utterly exhausting some days and coming on a Monday, after getting back into the swing of work and school, compounded the exhaustion and tolerance level for Sarah, myself, and Mira. I think we were all dealing with some serious caregiver fatigue today. Today was a pretty crappy Monday, no pun intended.

Tuesday, February 28, 2017

February Rewind

This month was so much of a blur, that I feel like I need to give a quick day-by-day recap. I missed a few important events, so let's rewind to around the beginning of the month and revisit:

February 2nd: Mira's vision specialist appointment, which can be recapped here.

February 3rd: Mira's IEP.

February 6th: Jonah's IEP.

February 10th: Mira seen in ophthalmology and her rough seizure day, which can be recapped here.

February 13th: Mira gets her new lightweight stroller! After my post on the 12th, our schedule became very hectic and I missed out on perhaps one of the most important days so far this year. Thanks to Variety KC (and the tireless efforts of Deborah Weibrecht) and Blue Cross Blue Shield of KC (BCBS), Mira received a brand new, lightweight stroller that can be lifted by just Sarah or myself - it was a must have for us, in the absence of having a converted van, since her other new chair (her permanent one we received through insurance at the end of 2016) is extremely heavy and nearly impossible to lift with one person. Now, we have so much more flexibility with taking Mira just about anywhere. We are so incredibly grateful to have this chair for her. On the afternoon of the 13th, Variety KC and BCBS hosted an afternoon event and formally gifted Mira her chair. Mira was in a sour mood most of the afternoon, but we managed to make it through and met some extremely generous people in the process.

February 14th: Had to travel to Halifax, Nova Scotia, then drove to Moncton, New Brunswick (2+ hours away) right after it had finished dumping over 70 cm of snow on Monday. Happy Valentine's Day too. When I arrived in Halifax, the airport was already cleared and into Moncton that evening, they were still digging out and hauling off snow. Sarah and I spent the evening texting from 1,900 miles away.
February 16th: Sarah has to take Eli to the orthodontist, to adjust, clean and/or repair his braces, for the umpteenth time. Gets hectic as his appointment is first thing in the morning. I am leaving Moncton, trying to drive back to Halifax mid-afternoon, during another impending snowstorm, that brings very high winds and of course, more snow. I get stuck, along with a few other cars and 18-wheelers, about 10 km outside of Moncton, lodged in 60 cm of snow on a highway exit ramp that the New Brunswick DOT had not plowed yet. Two hours, DOT plowing, and one good samaritan (with a huge shovel) later, I am off the exit ramp and back on the road. A normal 2+ hour drive takes over 6 hours, with a majority of my 'scenic' drive looking like something out of 'The Shining' - my knuckles frozen from digging myself out and from tense driving for hours on end:

February 17th: Goodbye Canada. Depart Halifax at 5:30am (Atlantic Time - 3:30am CST) and head home, which takes most of the day. Arrive home in Kansas City to 65 degrees and sun.

February 18th-19th: Mira and I take advantage of the weather and do a ton of walking outside, all in her new stroller, which is fantastic! It was so much lighter, easier to maneuver, and certainly takes infinitely less effort pushing up hills. We spent the entire weekend outside and in the sun. Mira is in a solid mood most of the weekend, only getting cranky when we were inside and idle.

February 20th-21st: Have to jump back on a plane and go to Virginia. Still exhausted from my Canadian trip and ready to be back home before I even get to the airport. Kids are finishing another 4 day weekend, while recovering from colds, flu-like symptoms, and fevers from weeks before. I start feeling cruddy by the time I get to Virginia on Monday afternoon. Finally arrive back home in Kansas City about midnight on Tuesday.

February 22nd: Sarah again has to take Eli to the orthodontist. More adjustments and repairs.

February 23rd: Mira has 3 intense tonic-clonics at school and is wiped out the rest of the day. I am burned out at work and absorbing all of the sickness that was passed around the office and every flight I was on.

February 24th: Feeling full-on flu symptoms and end up staying home from work and in bed all day. I feel terrible for Sarah, who just spent 6 out of the last 8 work days holding down the fort with the kids, as she is exhausted too. Spend the weekend slowly recovering.

February 27th: Having a coughing fit on the couch and end up bursting a blood vessel in my right eye. Have to go back to the airport for an global entry interview I have had on the books for months. Cannot reschedule and go in the afternoon. Still having great weather in KC though, so bonus there.

February 28th (Today): Mira has a Lupron shot in the morning in endocrinology. As she is quickly approaching 12 years old, we will ultimately start having conversations with her endocrinologist about when we should stop the injections and let puberty continue. For now, we are maintaining the course and will have the discussion at her next round, which will be in 3 months. And on this, the last day of February, I look back and can honestly say that the month has been an utter blur.

Wednesday, February 22, 2017

Still Spinning

February continues to spin 100 miles an hour. After all of the hectic first couple of weeks of the month, when I mentioned it couldn't get any busier, I spoke too soon. I had to go to New Brunswick for 4 days last week, getting stuck in a snowstorm outside of Moncton and didn't get back to KC until Friday. I was home for the weekend and had to turn around and go to Virginia early Monday morning and returned late last night. My sleep patterns have been screwed up for weeks now and on top of it, I've picked up the cold and sinus congestion that Sarah and the kids had last week. It was amazing returning home to 60 degree weather, after trudging through 60+ centimeters of snow on the east coast of Canada. Mira and the boys didn't have school on Friday or Monday of this week, which they didn't seem to complain about - who would, with yet another 4 day weekend. Mira and I spent a lot of time walking and enjoying the spring-like temperatures, which was warranted - she was in one of those up and down moods that required being in a constant state of motion. She managed to be in a good mood on Tuesday and today, enjoying some cafeteria foods and having some solid days in the classroom. We saw and heard a ton of dragon noises this morning and this afternoon, evidence that she continues to be in a positive mood. Since her last big episode at ophthalmology several weeks ago, it was been eerily quiet on the seizure front.

Sunday, February 12, 2017

A Funeral, A Birthday, 2 IEPs, and Ophthalmology

I truly don't think the last 10 days could have possibly been any busier. My head is still spinning from the non-stop, tumultuous few weeks we have been experiencing here. Unfortunately, it all started off with the passing of Sarah's uncle Jamie, who was a huge part of Sarah's life growing up here in Kansas City. He was an incredibly thoughtful person, making you feel involved and important with every encounter you had with him. He was engaging and sincere - he will be missed dearly by everyone in our family.

With Jamie's passing and the funeral mid-week, our days and evenings were occupied, gathering pictures and exchanging stories with relatives that managed to make it in town. On Wednesday, we attended the funeral and luncheon afterward, which trickled into the late afternoon, eventually leading into Eli and I spending the evening at his 9th grade enrollment activities, at his future high school. I cannot believe I am going to have a high school age child in another 6 months. Eli had an equally busy week, with mid-week enrollment choices and then celebrating his 14th birthday tonight! He has been saving up the money to build his own computer, researching and buying the parts over the past 6 months and with the birthday presents he received tonight, his build is nearly complete.
Prior to the funeral, we had 2 IEPs, sandwiching the weekend - one on Friday for Mira and another on Monday for Jonah. Both were fairly uneventful and there weren't a whole lot of changes for either one of them from last year. However, we did discuss Mira's diet some, coming to the conclusion that she should have the opportunity to try some of the school lunch offerings. The cafeteria staff has to puree her foods, as they do with some of the other students in her class, but it would give her the chance to eat with other kids in the cafeteria. This past week they started initiating this plan and Mira has been able to sample a variety of different foods, including broccoli, mashed potatoes, and a few desserts. Her teachers and paras noted that she was very enthusiastic about it all too. We have had our reservations in the past of pureed foods, as she used to gag on some of foods we offered, so we eased up years ago and kept her primarily on a bottle diet. Speaking of which, Mira seems to be gaining some weight since we upped her calorie intake. I can't give an exact amount, but it is visible in her legs and arms - she is looking fuller and certainly feels heavier when we are transferring her. Yes, not a very clinical analysis, but I can assure you, she has put on weight, which is great.

To finish off our insanely busy week, we had an ophthalmology appointment for Mira on Friday morning. Right after getting settled into the exam room, Mira had a huge tonic-clonic seizure, knocking the bottle I was giving her clear across the room, dousing the nurse with a spray of rice milk and protein powder. Mira was post-ictal during the exam, which made it a little challenging for the ophthalmologist to get an updated script for her. It took us months for us to get an appointment on the books, thus it was all just unfortunate timing that Mira has an enormous seizure right then. By the end of the exam, Mira was still having some dystonia and odd movements, but they were able to give us an update on her vision. Basically, her astigmatism is slightly worse and her vision overall is slightly worse, but perhaps not enough to warrant getting a new pair of glasses. Based on the discussion we had the week before with the vision specialist and our most recent conversation with the ophthalmologist on Friday, the recommendation was for Mira to have an ERG done, as she has not had one for 8 or 9 years, when she was being monitored in Saint Louis for retinal toxicity while she was taking Vigabatrin. The feeling was that is would be a good idea now to monitor her retinal activity and for us to understand where she is at in terms of her overall vision picture.
Mira had a rough day after leaving ophthalmology - she continued to very lethargic and altered, having an afternoon of dystonic movements and small seizures. We ended up keeping her home the rest of the day and ultimately, we had to intervene with Diastat to try and break the cycle of seizure activity by mid-afternoon. She has had many of these episodes over the years, with a spike of activity over the past 2 years. Fortunately, the dystonia never seems to last more than 24 hours and Mira quickly rebounds. She was a little lethargic on Saturday but we had spectacular weather (60 degrees, breezy, and sunny) so Mira and I spent a lot of time outdoors going on walks. We did the same today, although it was colder and overcast. Mira didn't seem to mind. 
Jonah was battling a fever and cold most of the week, missing school Thursday and Friday, thus we ended up taking him to Mira's appointment with us. His fever broke on Saturday and today he is back to his old self. I could tell you that the next two weeks are going to be easier, but I would be lying. I have to head to New Brunswick this week and Virginia the week after, which leaves Sarah to hold down the fort while I'm gone. 

Thursday, February 2, 2017

Vision Specialist

Today we met with ophthalmologist expert here in Kansas, who specializes in children with significant visual issues, particularly  Cortical Visual Impairment (CVI).  CVI is basically a disconnect between what the eye(s) see and the brain interprets - it is more of a neurological impairment than an actual visual one. Mira was diagnosed with CVI when she was very young and ended up receiving services through CCVI (Children's Center for the Visually Impaired) here in Kansas City, until she aged out of the system and entered the school district. Because of her constant neurological flux (hypsarrhythmia) it is extremely difficult for Mira to focus on much, if anything, for an extended period of time. Coupled with her extreme myopia, her actual visual processing ability is speculative at best. We do know that she can focus on her toy - the bright lights and motion are able to capture her attention, when she is in the right mood. The vision therapist she saw today was able to look at Mira's background and history to see if she could benefit from other alternative therapy approaches, so that Mira can reach her full visual potential. There wasn't any significant revelations during the appointment, however, it was great to hear someone else's expertise on how we might be able to help further her skills. Mira was able to maintain her composure throughout most of the appointment, although is slowly mastering her slouch in her new chair. An hour into the meeting, she had pretty much checked out and was ready to move on. We have an ophthalmology appointment next week, which will be interesting to find out if Mira's vision has changed at all over the last 12 months.

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.