Monday, June 18, 2018

Welcome Back

Sometimes, we all have to take a break. A break from from routine. A break from kids. A break from being being a caregiver. A break from researching. A break from reading. A break from reality. A break from being in a constant state of motion. After my last post in September, which ironically was around the beginning of school, I finally decided to return to Mira's blog, right after the school year has come to a close.

Sarah and I finally took a long overdue break in October, just for ourselves. We had been planning a vacation for several months and settled on something very predictable - Mexico. I had never considered myself a beach person by any stretch of the imagination, but the idea of sitting somewhere tropical, with no decisions to consider other than where to eat dinner each evening, and no agenda whatsoever, sounded like bliss. Keep in mind that Sarah and I have not had a vacation by ourselves, for more than a day or two, for 17 years. We were long, long overdue and thoroughly enjoyed doing nothing but being spoiled by having someone bring us drinks and clean our sunglasses. We cashed in miles and flew Sarah's sister in for the week, then Sarah and I escaped, spending 5 days at the Excellence Riviera in Cancun. 

I also took a break from reading and researching. The entire zinc episode last August and September sent me over the edge and I have, for the most part, stopped reading about epilepsy and autism. I had become so entrenched in articles, literature, and research that I felt like I deranged cat chasing my tail. Distancing myself from all the reading for awhile was frankly, very refreshing. I still venture into the occasional PubMed abstract if something seems relevant, but nothing to the degree I have been doing over the past 7 or 8 years. It was exhausting and at times, seemed utterly hopeless to think I could find something tangible that would stop Mira's seizures. Nothing has ever stopped them completely and I am not optimistic that anything ever will.

With all of this separation and temporary relief last fall, life quietly resumed where we left off before Mexico. It sounds so cliche, but the more things change, the more they stay the same. Mira's seizures have not changed one iota and we have not made any medication changes. She has bi-monthly bouts with dystonia, her latest happening this past weekend, where she had 4 seizures in the morning, forcing us to administer Diastat. Most of her days are how they have been for the last 12 years - random myoclonics, random tonic-clonics, and random irritability. Overall however, her demeanor seems to be much better, still having the occasional bad fussy day, but at least it isn't every single day, as it was a few years ago. In terms of the dystonia, it often looks like this, where I took a few pictures back in November of last year - her episode this past weekend looked identical:

Clenched fists, turned feet, body gestured to her left. Cold, clammy hands and feet, with an unresponsive stare, lasting for 18-24 hours. She doesn't eat or drink, but will make up for skipped meals the following day. We don't know why. It just is. If anyone has any suggestions, I am always open to listening.

The only real change over the past 8-9 months has been Mira's vision. As you may have read from one of my earlier posts, Mira has extreme myopia, to the tune of +10.00 in both eyes. Unfortunately, we took her in for her annual exam earlier this year and her vision has become significantly worse, peaking to +12.00 in one eye and +11.25 in the other. Another symptom with no answer. Again, I'm all ears.

It will be a busy summer. We have a new kitten, our bathroom is going to be renovated in a few weeks (to make it wheelchair accessible and to have a zero-entry shower) and Mira is getting a new bed. Photos and news will be forthcoming. Breaks are good, but I promise to not take such a long hiatus between the next post.

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.