Monday, September 17, 2018

Tumultuous Month

As we burst out of the school starting gate about a month ago, it has been a pretty rocky run, especially the past few weeks. First and foremost, Mira started at a new school this year. We knew the transition was going to be difficult, no matter how much you try to prepare. I won't go into to many of the details in dealing with the school district's unpreparedness in Mira's transition, but let's just say that there have already been several meetings with most of the staff already, in an attempt to make sure everyone is on the same page. There has been a fair amount of turnover in the district over the past 6 months, particularly in the special needs division, and it is obvious that the district as a whole is understaffed and overtaxed. It is improving, albeit very slowly. Mira only has 2 years at this school and we will be dealing with another transition in 2020 - hopefully it will go smoother.

Mira gave the school their first real challenge by having a multiple seizure day, complete with dystonia, the very first week. That episode, where Sarah had to come up to school and pick her up, I think was a definite eye-opener for the district, in just how much they all really need to get to know Mira. We met with the district numerous times prior to the school year starting, walked through her seizure action plan and the protocol we have in place. However, nothing can prepare you until you have actually been through it. Sarah eventually got Mira home that day and ended up administering Diastat at home, in an effort to break the cycle of seizures. Unfortunately, Mira had another one of those episodes on Saturday, where we again had to use the Diastat to break the clusters and seizure cycling. We have found that her clustering has become more prevalent this year, along with the associative intervention on our part. Chalk it up to hormones, growth, or whatever you wish - we cannot predict it. We just know it is happening more often.

All of this seizure activity has been wiping Mira out. She spent most of the day yesterday sleeping. We went out to the mall for a bit, which she seemed to enjoy for the first 20 minutes or so, but the exhaustion of all of the seizure activity the day before, just wore her down. Her sleepiness continued after school today, where she just slept, folded into her pretzel comfort position.

We have a few more appointments coming up - one with her ophthalmologist, another to get fitted for another pair of dafos, and another to rewrite her IEP with the school district. She has outgrown her current dafos over the past 12-18 months and they are too constrictive when she is in her walker at school. In terms of ophthalmology, I really don't know what to expect with her vision. Her extreme myopia has gotten significantly worse over the past year, going from a -10.00 to a -12.00 in a span of less than a year. My hope at this point is that it is not getting any worse. We are currently in a holding pattern to get her some new glasses (her last pair have been thrown on the floor one too many times and are beyond repair) so she is currently using her older ones, which have a slightly weaker prescription.

Sarah and I are finally going to go out for our 18th anniversary this weekend, over 3 months after the actual date. It has been very difficult for us to get out, with extremely limited resources in the babysitting department. We have been actively working every avenue we can think of to find people to help with Mira, but the reality is, there aren't a whole lot of available people out there, even for an evening. It's a busy time of year with school starting and schedules filling up.

Friday, August 3, 2018


Mira had her 6 month neurology appointment this afternoon. Typically, we like to schedule the appointment itself earlier in the day, when Mira is, generally speaking, in a better mood. However, seeing as we have to schedule the appointment 4-5 months in advance, we take what is reasonably available. Turns out, a late Friday afternoon appointment was not the ideal time frame to accommodate Mira's mood today, She was irritable before we left and stayed unhappy for the first 20 minutes of the appointment, before finally settling down.

We went heavy into several discussions during her appointment, the first of which was the idea of her having homocystinuria. I have been corresponding with her neuro on this topic for the last few appointments, but we did a deeper dive today in understanding what steps we would need to take in order for her to be fully tested for it and to completely rule it out. First and foremost, we would need to take her off of the pyridoxine completely, for several weeks, in order to capture a decent amino acids panel from her urine to see if she is dumping cysteine. Seeing as how we tried weaning her off of pyridoxine a few weeks ago (see my last post) the prospect of taking her off of it for any length of time is not an option at this point. We have tried this several times in the past and it is always a disaster.

The second option would be to switch her current protein powder for Hominex-2 for a few months and see if there is any improvement. While our neuro has no issue with doing this, it would be an incredibly expensive option, as Mira does not have a formal diagnosis of homocystinuria, thus insurance would not cover a 2-3 month supply of Hominex. Seeing as how it runs over $600 a case (for a half-dozen 14 ounce cans) we might be spending upwards of $2,500 or more out of pocket to run her through such a trial. I am looking into options of trying to find it cheaper, but there are limited outlets and we have limited funds to pay for it. If anyone knows of some other avenues of trying to obtain Hominex-2 any cheaper, please let me know.

In the meantime, we are going to try and get an appointment with a metabolic geneticist through CMH, to sit down and get their opinion on whether we should look deeper into the genetic and metabolic nature of Mira's seizures to see if we can arrive at any conclusions or avenues to pursue. The primary reason would be to discuss the concept of her having homocystinuria.

The second discussion had to do with CBD/THC/hemp/cannabis, which I won't go into the lengthy details of the actual conversation, but our neuro gave us a very informative update on where he thinks the issue is headed in the next 90 days. We have been closely following the status and development of Epidiolex, which is a CBD based medication used for the treatment of severe forms of epilepsy, including Lennox-Gastaut Syndrome and Dravet Syndrome, both of which Mira has been formally diagnosed with. Currently, the FDA has approved the use of Epidiolex for epilepsy, however the DEA needs to reschedule cannabis from a Schedule 1 narcotic, to where is more appropriately belongs as a Schedule 3 or 4 drug, in order for it to be legally administered in the states. It is still running in clinical trials right now. By the way, Lyrica, which Mira has been taking for the last 10+ years (I've lost count) is a Schedule 4 drug. It is absurd that cannabis is at the top of the list, along with heroin and LSD. All we can do is wait for the rescheduling to occur, in order for this to be an option for Mira.

After settling down during the last part of her appointment, Mira again vocalized her displeasure before bedtime, which prompted me to take her for another walk outside in the park. That worked for about 15 minutes, until she was again irritable before falling asleep. I figured the long walk we went on before her appointment would keep up her spirits, but it apparently I did not fulfill her daily walking quota and she needed a few more laps before settling down.

Saturday, July 21, 2018

Changes, Changes, Changes

So many changes over the last few weeks. First and foremost, Mira celebrated her 13th birthday at the end of June, which officially marks us having 2 teenagers in the house. I cannot believe where the time has gone with having a sophomore in high school, a 7th grader, and a 4th grader. We had a very low-key celebration at the house, which Mira didn't seem to mind. She had been having a rough time at the end of the month, so we felt like we needed to keep the celebration to a minimum.

The biggest change as of late has been Mira's transition from grade school to junior high. It was an emotional week for us, as Mira finished her last day at school this past Thursday at OPC. She had been at the same school for the past 7 years (K through 6th) and I think there are claw marks on the doors where they had to pry us away from the school. Mira has an enormous amount of support from her paras, the school, the principal, therapists, the cafeteria staff, and of course her teacher, who has been running the classroom since Mira started kindergarten there. We had to say goodbye to the only other person who knows Mira as well as we do. I am sure our paths will continue to cross, as the special needs community in the school district is small, yet the overall transition is to a new environment and a new support system is always difficult.

One of the last changes has been completely my fault. We have had Mira on a steady dose of pyridoxine (vitamin B6) for some time now and on occasion, I question my decision to keep her on this high dosage, as we continue through this journey with her. I read about the risk peripheral neuropathy, combined with the fact that Mira is non-communicative. These questions typically surface after Mira has a bad week (or weeks), which is exactly what transpired at the beginning of the month, which I will get to in a bit. Questioning and evaluating is good I suppose from time to time, which is what I try to do when she is having a bad few weeks, so I questioned whether the high dosage she is on is:

a. truly effective in seizure control or reduction
b. potentially causing harm (i.e peripheral neuropathy or something other side effect)
c. making her uncomfortable
d. actually increasing her seizure activity
e. causing imbalances in some way in the body
f. all of the above

After Mira had a few really rough weeks at the end of June/early July, where she had multiple days of multiple involved and repetitive tonic-clonic seizures, forcing us to administer Diastat twice in 3 days, these questions all came up again, causing me to evaluate Mira's current daily medication and vitamin intake. Thus, I reduced her pyridoxine dosage, thinking it might be the cause of something - an increase in seizure activity, dystonia, neuropathy, or the root of what had been disrupting her flow the last few weeks. Keep in mind that she is still currently taking Lyrica, which she has been on for years, as well as Fluoxetine, both of which serve their respective functions - partial seizure control and combating irritability to a degree. They both seem to be only fairly effective. Neither one completely stops her seizures or entirely stops the fussiness, but they at least help, which is the best we can hope for after trying dozens of ineffective meds, therapies, and treatments prior to settling on this regimen. These dosages we have not altered for some time, thus the only variable that I decided to change was her B6.

Well, reducing her pyridoxine has been an absolute disaster. After reducing it for a few days, the irritability spiked and today has reached an unprecedented level of wailing and screaming in her bed, for hours. Nothing is keeping her happy and there is nothing we can do to address it, other than to wait it out and increase her dosage back to where she was. I saw it coming yesterday and immediately boosted her dosage back up to where it was a week ago.

I seem to never learn the lesson that all of this is such an incredibly delicate balance and shifting one single domino causes the entire maze to seemingly collapse. We have been down this path before, attempting to adjust pyridoxine, Lyrica, and a host of other meds on the pharmaceutical roller coaster (at different times) and it never ends well. Insanity is doing the same thing repeatedly and expecting a different outcome - a lesson I truly need to grasp. Less pyridoxine = more irritability. That is the outcome. It's not difficult to understand. No one in the medical profession will be able to convince me otherwise that Mira has some level of dependence and/or deficiency with pyridoxine and this latest dosage trial reinforces that theory, once again.

As the wailing continues, the questioning will no doubt continue, but for now, we are moving back to where she was on the B6 and crossing our fingers that some sense of normalcy will return soon.

Saturday, July 7, 2018

Irritable Day

Mira just had one of 'those' days today. Nothing would keep her happy - we tried going down to the Rivermarket for lunch, which was probably not the best choice, considering it was a beautiful sunny Saturday, with the high only getting into the mid-80's. As soon as we hit traffic, Mira started fussing, so we changed plans and grabbed some BBQ carryout in the opposite direction and and had lunch back at home. We will try the market again some other day I suppose.

Mira's irritability continued through lunch, so I took her for a walk for an hour and a half around the neighborhood, which was the only thing that kept her in a positive mood the entire day. As soon as we were back home, she ramped it back up again. She was twitching a lot today and yesterday, which is usually a sign that a really bad tonic-clonic filled day is lurking around the corner.

The neurological flux is part of it but the other factor is her desire for mobility and perhaps a change of scenery. I get it. She is bored, wants to move, or wants to do something else - since she is non-communicative and non-verbal, it is a guessing game as to what that magic bullet would be that would change her mood. It is impossible to keep her in a constant state of motion - we can't physically sustain the level of activity she requires to be happy on days like this. The swing in the park (which she is really too tall for now) will only get you so far, as will walks around the house, or time with her toy. We were able to get through the day today, but tomorrow may be a challenge if the heat spikes back up outside again.

Saturday, June 23, 2018

One Birthday and Two Days of Turbulence

It has been a busy few days around the house. My sister and her family had been planning a trip to St. Louis from Colorado for some time, making a stop in KC to visit us for a few hours, which was great. We were able to have an uninterrupted chat for a couple of hours, where Mira was content the entire time. She was even able to sit with us in the kitchen for a solid hour, not really making so much as a peep - she just sat in her cozy position, while patting and kneading her knees periodically, as if she was practicing making a loaf of bread. 
The following morning, we celebrated Jonah's 10th birthday - he is officially in double digits now! He didn't seem super impressed with the gigantic inflatable numbers we got for him, but he had a solid day nonetheless. We had Indian takeout from our favorite spot here in town (Jonah loves the naan and mango drinks), while Sarah and Jonah tackled his presents together (Legos - thanks Auntie Aura!) We later went out and picked up something Jonah has been talking about for months - a pet fish. Jonah had a good time picking out the tank, rocks, vegetation, and of course, the actual fish, which was a small green and blue betta that he named Neptune. The kid loves his planets.

That evening, Mira did a 180 degree turn from the night before and was super irritable, to the point where she was wailing at the top of her lungs, tears streaming down her face, for a solid half-hour before we decided to give her something. She had not had an episode like that for a long time. Unfortunately, she followed up with a repeat performance this afternoon. I ended up taking her for a really long walk outside right after lunch, instead of trying to easy her anxiety with medications again, which seemed to take the edge off for about an hour or so. She soon tired of the walk and was again fussy, so we ended up alternating quick fixes of bottles and doing more walking in the house for the next few hours. She finally calmed down right after dinner, after the merry-go-round of laps, bottles, and toy time eventually wore her out.

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.