Mira Bella Bertolino

Mira passed away very unexpectedly, on October 26, 2022. While no words can describe what we have been through over the past four months, we can only say that we are truly devastated by her passing. Mira brought us so much joy as a family and we will not be the same without her. There will continue to be, every day, an incredible emptiness without her here with us, in every part of our lives.

The outpouring of love, support, encouragement, visits, talks, meals, and generosity we have received since Mira's passing has been overwhelming - we cannot thank everyone enough for everything in helping us through some very rough times since October. I wanted to personally thank everyone who has followed her blog over the years, as that same love and support, through comments, posts, and stories was always a constant source of support for us as a family. We are eternally grateful. 

Mira's obituary can be found here.

With love - Marc, Sarah, Elias, and Jonah

Unprecedented Times

 

I'm really not sure where to begin with this post, as it has been over a year since my last, so given all of our recent societal whirlwinds, I will just start with that I suppose. With the explosion of Covid-19 over the past 7-10 days, nearly everything in our day to day rituals has been slowly changing; slowly evolving; slowly morphing into something new and unprecedented in our lifetime. At the end of the day when we sit down to reflect on another day of reading, waiting, unfolding, and confinement, I find myself asking the question 'is this really happening?'. Yes it is. Sit back and hang on, as it may be a long, bumpy ride with a lot of unexpected turns.

I am sure this is a recurring theme throughout most states, but here in Kansas, schools have been closed for the rest of the academic year and today, an early afternoon press announcement notified everyone that greater Kansas City area that it will initiate a shelter-in-place protocol, starting this Tuesday at midnight. Similar to other major metropolitan area enactments around the U.S., only essential businesses are to remain open. Outside of the most obvious ones, being hospitals, health care, and the like, others include grocery stores, gas stations, and hardware stores. Life in Kansas City for the foreseeable future is changing, as these restrictions are to remain in place until at least April 23rd.

With the closing of schools, the district will shift gears toward an online approach and the boys will adapt to a schedule of working and learning from home. What that exactly looks like is to be determined, but seeing as their curriculum is very traditional in nature, it should be easier to shift to a virtual platform much easier than they will with non-traditional students. There will be adjustments and there will be challenges for the boys. For Mira however, we are anticipating that the picture will be very different. We are uncertain exactly how the district will continue to provide PT, OT, vision, and a host of other therapies, remotely. Obviously, these types of therapies require face to face interaction with a para and/or therapist, which in our newly enacted stance of social distancing, is nearly impossible. While home therapy is a possible avenue to explore for therapists, risking contact with multiple children, many of which are at risk for developing respiratory infections, every day is definitely not a great approach for the kids, the therapists, or any of our/their families. We are communicating with Mira's teacher to try and understand how we are moving forward, however, this was Mira's last year of middle school and it has ended very abruptly. She has to transition to high school in the fall and before that, typically has ESY (Extended School Year) for the summer, which as of right now, is questionable as to whether it will even happen. So much for minimizing transitions and change for Mira. For the most part, Mira has been handling the down time very well - this was however, spring break week and everyone was supposed to  go back to school tomorrow. We are officially entering uncharted waters, as the kids will not be going back to a physical school until August - 5 months from now.

As for how Mira has been doing over the past year, well, there have been some definite ups and downs. Throughout most of 2019, we were seeing a steady increase in dystonia days, periods where Mira is rigid, clammy, and distant, having these recurring episodes of dystonia or dystonic movements, lasting anywhere from 8-24 hours - these are the same episodes she has been having for years. We started experiencing more days like this, as many as 4-6 a month. It was to a point to where there needed to be an intervention, thus her neurologist started her on a low dose of clorezapate. This dosage seemed to help initially over the summer, where the dystonia days were reduced somewhat, but over the past few months, we again have started to see an increase again. Clorezepate of course is a benzodiazepine, which the body often builds a tolerance to, thus they tend to lose their efficacy after a while. Benzos are a vicious roller coaster which we are always reluctant to ride, so for now, she is holding steady on clorezepate, fluoxetine, and pregabalin, which she has been on for years.

On a positive note, we were able to get our bathroom conversion finally completed and it is a fantastic improvement for getting Mira in and out of the shower. It has a zero entry floor, giving a seamless transition in her shower chair, but most importantly, the shower itself is way wider, which allows for much more maneuvering insider the bathroom.

On a second positive note, we were also able to purchase a converted van, for a small fortune. We finally gave up on dealing with Medicaid to help with any sort of financial assistance, as they offered zero transparency in understanding what they would pay for and what we were responsible for, making it a ridiculous financial equation that you could never solve. We ultimately found a 2011 Odyssey in Texas, with only 15,000 miles on it and had it shipped here. The van itself worked flawlessly the first few months, then the lift mechanism became increasingly temperamental, not wanting to work properly with the 'kneel' feature in the van, or just not work at all. We are still dealing with its idiosyncrasies, but don't drive the van enough to warrant leaving it at the shop for days on end to try and figure out what is wrong with it - we have already had them look at it several times.

I suppose in looking back on 2019 overall, it truly felt like a marathon - we were seemingly always busy, always in motion, always trying to get all of the puzzle pieces to fit to try and keep our family running smoothly. The beginning of 2020 proved that the marathon wasn't complete, as we kept running, kept in motion, and everything was falling in order for once. That marathon stride was broken a week ago with the unfolding of this pandemic. We will keep moving, just at a different pace, down a different path.

Stay safe, stay healthy, and most importantly for now, stay home.

Storms and Power

Don't get me wrong, I love snow, but not when it's heavy, wet snow that gets dumped on your 60+ year old fragile trees in your neighborhood - trees that are menacingly looming over sagging power lines, without snow on them. Wet snow always spells trouble. We tend to lose power about 3-4 times a year, most of the time it feels random and isolated - a downed power line that gets strung back up by KCP&L within a few hours. However, we have had major storms wreak havoc on our neighborhood over the past 20 years, three of which I can recall quite vividly.

In 2002, we had a major ice storm that dropped 2" of freezing snow and ice, knocking our power out for 4 days. Fortunately, this was prior to Sarah and I having kids, so we weathered the storm and survived, however it was on day 4 of not having power or a reasonable amount of heat (we have a non-functioning fireplace) that we seriously contemplated staying elsewhere. Ironically, we were pulling out of the driveway to watch the Superbowl at a friend's house, when the power was restored. We ran around the house flicking lights off an on, just for the sheer pleasure of watching the glorious magic of electricity in action.

In the summer of 2017, Kansas City was hit with a terrible summer storm, with gusting high winds that sheared limbs and ripped entire trees completely out of the ground, dropping them on houses, cars, and again on our flimsy above-grade power lines. Our neighbors across the street had their entire electrical box torn off the house and their entire deck destroyed by several falling trees - their backyard looked like a war-torn jungle afterward. That storm knocked the power out at our place for 3 solid days. After the second day, the house became very hot during the day (as it was summer and very humid). By the third night, Sarah and the boys found refuge with friends down south who were not affected by the storm. Mira and I decided to brave it in the house, which in hindsight, was not a good idea. The rationale was the prospect of trying to take care of Mira in someone else's house, without the luxury of her bed (changing, transitions, and lifting would be a nightmare), navigating her chair, and the food items we would have to lug around, just sounded like a daunting amount of work, thus we thought it made sense to try and sweat it out one more night. It was not pretty, with temperatures in the 90's in the house during the day. We did survive, just barely.

Fast forward to Friday night, where this latest snow storm left over 100,000 people in KC without power. We were one of the fortunate ones, as we only lost power for about 36 hours. Right after the Chiefs playoff game started about 3:30pm on Saturday, we went dark and it stayed out until Monday about noon, when power was finally restored to our block. Mira's teacher was not so fortunate - her lights finally came back on just yesterday. 

So how do you make it work with a non-verbal, non-communicative, non-ambulatory child with special needs? Well, fortunately we had a good friend who was at the Chiefs game who loaned us his generator, dropping it off around 9:00pm on his way back from the game. Had we not had the generator, we would have been in dire straits, as the temperature had already started to drop into the high 60's by this time. With the generator, we were able to run one space heater, a few lights, and the refrigerator. We stuck the heater near Mira's room, dressed her in 2 coats, and crossed our fingers that this particular outage would not be a repeat of 2002.

By the time Monday rolled around, the house had dropped to the low 50's and were starting to consider different options if the outage continued much longer. Fortunately, the kids could all go somewhere warm during the day - school. I think Mira was happy to get out of the house, although she was an incredible trooper throughout this whole ordeal - we still did our usual routine of racing and walking around the house, only having to dodge the smattering of electrical cords and surge protectors strung across the floor (see pic above) so Mira was really not completely out of her element. We had blankets across her legs with double socks at times to keep her warm. Her bottles took longer to warm up with hot water, as we could not run the microwave, but Mira did not seem to mind the extra wait time. 

I lost count of the number of times I had to run down to fill up the reserve gas can for the generator or how we had to play musical appliances just to make a cup of coffee, but all in all, it could have been so much worse. Monday morning I took some time off work to go on a generator hunt around town, which was pointless - no one had any in stock and no forecast of when they might have more in. We will be getting a generator of our own at some point, most likely after the next wave of snow hits this weekend. Yes, now that we are all trying to get back in a rhythm, the forecast for this weekend could potentially be a repeat of last Friday - we are expecting a combination of rain, snow, sleet, and colder temperatures starting tomorrow.

On a positive note, I had my last trip to northeast Canada, this week. As if the snow and cold in Kansas City wasn't enough, I had a scheduled flight into Halifax and a drive to Moncton from there on Wednesday, which I returned from this afternoon. Nothing beats white-knuckled driving in the snow, in the dark, with gusting winds, in January, for 2 1/2 hours through the backwoods of eastern New Brunswick. Is winter over yet?

Unhappy Wail-a-Thon: The Sequel

Mira was completely content all day today, until everything exploded about mid-afternoon. We ran a few errands right around lunch time, with Mira kicking her feet and ready to move at all times, our fingers crossed that we turned a corner after a dismal day yesterday. She had been getting very twitchy and was having a ton of strong myoclonics by the time we got back from errands, so I have no doubt her change in demeanor was neurological in nature.

Shortly afterward, she went into a repeat performance by getting extremely irritable around 3:30pm, which I temporarily remedied by walking her around the house (the weather was not as pleasant as yesterday - very windy, occasional rain, and 15 degrees colder by this time) with her playing with her toy while we walked, for a solid 90 minutes, without stopping. She must have had 2 or 3 dozen mild myoclonics while we were walking, but consistently played with her toy the entire time. The picture below is her face after we finally stopped walking.

Right after I took this, she started up again by voicing her displeasure of bath time, by wailing at the top of her lungs for 45 minutes. Her wailing echoed off of the tile in the shower walls, which literally made my ears ring afterward. Even after we were done with her bath, she continued to scream in her bed for another hour, until we gave her Valium to settle her down. She was having serious difficulty decompressing from whatever cycle she was in. We have only had to use Valium maybe 2-3 times in the last year or so and today was one of those days.

This has been one of the most exhausting 'breaks' we have had in years it feels like, and perhaps it is just my feeling of sprinting toward the finish line of this current school-less marathon, trying not to collapse or vomit before I hit the tape. The kids have been out of school for a over two weeks and it feels like it has been an entire summer. They are back tomorrow and it couldn't be soon enough - we all need to get back in a rhythm. Sarah and I could really use a vacation from our 'vacation'.

Welcome to 2019

Not there there is any magic timer that resets come January 1st, but here we are day 5 into the new year and Mira is having one of those days. After having a few decent days in a row, her irritability started to ramp up this morning about 10:00am and has been going off and on for the last 6 hours. We have been trying to pull out all the stops with her since - inside walks, long outside walks in the sunshine, bottles, her toy, and even her toy while she is walking inside the house, but nothing is keeping her happy for more than 10 minutes at a stretch. She is currently wailing in her bed at the top of her lungs. Nothing left to do for now but wait it out. Sigh.

The New Year

Mira finished off 2018 with some heavy seizure activity - one big tonic-clonic, followed by some mild dystonia for the rest of the day, which slowly started to dissipate by early evening, so much so that Sarah, Jonah, Mira and I managed to go out for some Chinese for dinner, which was nice to be able to get out of the house. The restaurant was fairly empty when we first arrived, but by the time we left, it was pretty packed. Considering it was New Years and the fact that we were getting four seasons in one day yesterday afternoon (rain, which turned to snow, yet never cold enough at the time to stick or accumulate) which caused most people coming into the restaurant to getting carryout - I think the weather kept a lot of people indoors, as the temperature had dropped 10 degrees by the time we were headed home. Mira was very quiet throughout dinner, still slowly recovering from the effects of some mild dystonia. She showed a little energy before we left out the door, perking up a bit and kicking her legs. She had a decent appetite before bed and enough energy to have a few bottles.

This morning she is having some strong myoclonics, which is a fairly typical morning for her. The dystonia has subsided for the most part, although in its place, are a lot of intense upper limb jerks that are keeping her from organizing enough to drink anything. We will wait it out for an hour to it to subside and try again. After nearly two solid weeks off of work, I am going to have to get on a regular sleep pattern somehow by tomorrow morning. Wish me luck.

I hope you all had a safe New Years Eve!

The Year at a Glance

Where to begin. I'm sure I have said it before somewhere, in some random post (multiple times), but the best cliche for 2018 I could muster is the old adage 'the more things change, the more they stay the same'. While on the surface there were a lot of changes Mira seemed to go through over the past 12 months, they all end up leading to the same path (or roller coaster, depending on your perspective) that we have all been on for the last 13 years. I think the saying is appropriate in every category across the board, but I will try to do my best in giving a brief recap for 2018:

School

As you may have read from my last post in September, Mira's transition to middle school was pretty rough in August and September. Multiple parent/teacher/school district meetings and discussion on what is best and appropriate for Mira's education and how we need to move forward as a united front. There were a host of variables in play when she started in August, most of which focused on the school staff getting to know Mira, but also the lack of staff they had available in her classroom. The district simply was not prepared to handle her classroom and the number of kids coming in at the beginning of the school year. After the dust settled with this tumultuous autumn start, there was no finger-pointing or foot-stomping, as it was not a singular issue that you could narrow it down to - it had to do with district funding, staffing, communication, turnover, availability, and again, preparedness.

In looking back to the beginning of the year in January, we were voicing concerns with the school district and how we wanted to minimize the number of transitions Mira was going to have to be subjected to, for this very reason. It takes a while to get to know all of her nuances, her temperament, and her ever-changing spectrum of seizure activity. We had some initial meetings with her teacher prior to her starting, which were very helpful, however the promises made by the district were not acted on, as there was a considerable amount of turnover in the summer months, which led to much of that communication getting lost in the transition.

Fast-forward to December, we had Mira's IEP re-written, the district has improved staffing by getting additional support in the classroom, and everyone has really gotten to know Mira very well over the past few months. Mira's teacher and paras are wonderful and have been through all of this. We (parents, teachers, the district, etc.) are collectively getting the train back on track and everything has been going smoothly ever since.

Medications

This is an easy one. What has changed this year? Really, nothing*. I'll say that with an asterisk, as I did try to lower her pyridoxine (see July 21st post) which ended up being a horrible mistake. I have never truly learned the simple lesson we as a family have experienced with this crazily influential vitamin, which is this: less pyridoxine = more irritability. We all witnessed it first hand for a week or so when I attempted to lower her dosage over a few days over the summer, the reduction prompted by me questioning what was going on with her during one of her bad spells - by the time day three hit on the weaning down of the pyridoxine, she was a complete wreck, crying constantly, and expressing some extreme irritability that nothing would remedy, except to bring her back up to where she was on her dosage.

Her neurologist always raises an eyebrow during our meetings at her dosage, however explaining the severe mood swings in lowering it, we all agree she is where she needs to be with it. It helps with her mood and I am not changing it. Outside of the pyridoxine woes, we have not attempted to rock the boat in any other capacity with medication or diet changes. Mira continues to be on Lyrica and Fluoxetine. This combination does not completely control her seizures, but it does help with her irritability and offers some seizure relief.

Her neurologist has offered up a few remaining AED options, along with revisiting the Ketogenic Diet and a VNS, but those actual medications that are left have the same mechanism of action and/or efficacy rate of all of the others she has tried previously. We have had several conversations about Epidiolex in 2018, which is currently running through the clinical and political protocol at Children's Mercy. It could possibly be an option for Mira in 2019, as the FDA and DEA have both loosened restrictions on using CBD/THC as an option for catastrophic epilepsies. It's just a matter of time before all of the barriers fall universally across the country - Missouri has finally embraced medicinal cannabis, but I suspect Kansas will be one of the last states to hold out, thanks to our atrociously conservative political climate. However, the wall is slowly crumbling thanks to the mid-term election turnout. I will park my political rant in that stall and leave it for another day.

Seizures

The 'change' cliche is most appropriate when considering Mira's seizure patterns over the past 12 months. Overall, the actual seizures have not changed at all in type - she is still averaging about 2-3 involved tonic-clonics a week, hundreds of myoclonics every day, and countless jerks, spasms, and staring spells/absence seizures that are impossible to tally, nor predict. Some days are awful for her - multiple TCs, followed by persistent dystonia for the next 12-36 hours. The number of days she has experienced these dystonic episodes seems to have increased this year, although we have not been tracking them consistently. We just know that when she has a multiple seizure day, more often than not, it will lead into some degree of dystonia. Sometimes, however, the dystonia will just come on by itself - she will become increasingly agitated over a period of a few days, prior to it coming on.

What has changed over the past year is the number of times we have had to intervene with Diastat to stop 'clustering' seizures. In the past, Mira has had multiple tonic-clonics within a short period of time, often within 20-30 minutes of each other. Once we see this occurring, one of two things usually happens: she will continue to have involved tonic-clonics, usually 5-6 at a time within a brief period, or it stops at 2-3 and it evolves into a bout of dystonia, or sometimes, both. Either way, we feel like the best solution is to try and break the cycle all together by trying the Diastat, which is usually effective enough to change or divert the pattern to give her some relief. She has had a spike in the number of clusters this year and we have no idea why. Could be hormones, stress, growth spurt(s) or who knows what. All we know is that we have been refilling her Diastat multiple times this year, where in the last 6-7 years, we were lucky to only fill it once a year.

Vision

Mira's vision this year has worsened some. Her script over the past 12-24 months has gone from a -10.00 to roughly -11.50, which is an incredibly high script to begin with. Her astigmatism has worsened some slightly as well. Her last trip to the ophthalmologist over the summer, Mira was extremely uncooperative in trying to get a solid reading on her vision, but after some time and patience, they were ultimately able to get the information they needed, but not without a lot of fighting and tears on Mira's part. The good news is that there were no signs of glaucoma, disease, or any significant issues with her eyes or vision - she just has extremely high myopia and no one seems to know why.

In terms of her eye rubbing, it has decreased some this year, but not enough to say that things have changed significantly - she still does it, especially outside, but we try to control it as much as possible. Mira has nearly perfected her trick removing her glasses, which is to slide her left index finger on the inside face of the frame of the glasses, curl it around the frame, then fling them to the floor. Her last pair of glasses met their demise this way, so she is temporarily using her old pair, until her new frames arrive in about a week. She is sneaky about throwing her glasses around sometimes, so you have keep an eye on her, no pun intended.

Transportation/Home Modifications

In late 2017, we started a process with Medicaid to have one of our bathrooms modified to make is accessible for Mira's chair - simply put, the plan is to tear out the existing shower and enlarge the entire area and make it a zero-entry shower, so we can more easily bathe her and minimize the number of transfers from wheelchair to bed, to bath chair, etc. Ironically, it has been over a year since we started this process and we are finally on the schedule to have the modifications done in January 2019.

I won't go into the painful process and countless meetings we have had in order to get this moving forward - I will only say that I am thankful we can finally say that it will happen, very soon. Her case manager and advocates through Medicaid have been amazing and wonderful - however, getting a qualified contractor and getting the work scheduled has been the primary hangup. Bathing Mira has become an enormous challenge, as she is now 5' tall and very difficult to not only transfer, but to physically get her bath chair into our current shower. Transferring Mira when she is 'planking' (she will go completely rigid and stiff as a board) is incredibly taxing on our backs. Construction to modify our existing shower shouldn't take too long, but we will have to figure out a temporary bathing scenario that works for everyone.

As Mira continues to grow, our need for an adapted van will come to a head in early 2019. We have been eyeing a bunch of 2019/2018/2017 Honda Odysseys (we are a Honda family and love our current Odyssey, but it is a non-converted 2006 and definitely showing its age) but the cost for a newer model van is mind-boggling. We are currently working with a local van company to get our arms around financing options, which has really been the sole deterrent in purchasing a van. They are extremely expensive - the one we are looking at is $70,000, which is a hard pill to swallow. Medicaid will offset the cost of the lift (we hope) but a new van off the lot at a dealer is still over $40-45,000. To complicate things further, my car (a 16 year old Honda Civic) is showing it's age as well. The thinking is that I try and find a newer model Civic and Eli (who in theory will be driving in the next 4-6 months) will take my car. The van is this priority - everything and everyone else will need to wait.

It has gotten to the point where we don't have a choice but to buy one. Mira's current chair barely fits in our current 13 year old van, not to mention it is impossible for one person to lift her chair into the back of the van without causing some serious risk to your back or internal organs. It just isn't safe. We have a portable stroller that we received through Variety in 2017, which is awesome, but it doesn't completely alleviate the need to be able to transfer Mira in her day-to day chair. It becomes an issue every time I travel for work - it leaves Sarah having to navigate (or ask for assistance) to transfer Mira's regular chair into and out of the van. It continues to be an issue for us that must be resolved in 2019.

Research

Things have been extremely quiet on the research front in 2018 and I suppose the reason is this: I feel as though I have exhausted every possible avenue I can think of in terms of treatments, therapies, and possible diagnoses for Mira. I hit a breaking point in the fall of 2017 where I just needed to take a break from it all and stop reading, stop wishing, and stop hoping for that needle in the haystack, or that anything is ever going to alter the path Mira is on. It has been a difficult process of letting go, as I have been entrenched and consumed by the idea that things can get better for Mira. This journey she has been on for the past 13 years has been fairly consistent. The adage rings very true here.

I will continue to be a firm believer in the miracle (for Mira anyway) of pyridoxine and am always open to listening to suggestions/comments/anecdotes/stories from anyone, but at the end of 2018, I am hanging my hat on these rudimentary clinical observations, from a lowly architect, of what Mira is suffering from. Some are more obvious than others:

• uncontrollable seizures - all types: tonic-clonic, myoclonics, spasms, abscense seizures
• extremely high myopia
• dystonia
• pyridoxine-dependency or at a minimum, pyridoxine-responsiveness
• ataxia
• irritability
• breath-holding/teeth-grinding (occasionally)

Of which most symptoms point to the following:

• pyridoxine-responsive homocystinuria (or some variation thereof) 
• pyridoxine-dependent (or responsive) epilepsy (PDE) (or some variation thereof)
• neuronal ceroid lipofuscinosis (or some variation thereof - she has a heterozygous mutation of TPP1, but a biopsy ruled this out for the most part)
• cerebral folate deficiency (this is a stretch, but she has all of the symptoms - we did a brief trial of folinic acid a long time ago, but may revisit with her neurologist)

I can't imagine 2019 will be much different than 2018. There haven't been any new revelations or advancements in the field of epilepsy or autism research or treatments, other than in the CBD/THC department, which the regulations and restrictions are slowly lifting. I am optimistic that perhaps Epidiolex will present itself as an option for Mira in the coming months, but outside of that, there is nothing else out there that I have researched that I feel will alter Mira's course of seizures or help in any way. Call it pessimism or acceptance - i think it is simply the reality of where we are at. 

Life and Family

I cannot tell you how many times I have heard the comment directly or indirectly 'I don't know how you do it' either referring to Sarah, myself, or us as a couple. People mean well and I truly appreciate the sentiment in the question - people truly care and that means something. Whatever the context or whoever it is directed to or at, is irrelevant. Yet, I personally don't know how to answer that question without venturing into a lengthy, drawn out explanation/venting session that, 20-30 minutes later, causes ones eyes to glaze over. The only way I can respond to that question is to say that this is our sense of 'normal'. It's just like raising a family in any other situation - there are just different challenges and different rewards.

Raising neuotypical kids is hard work. Raising kids with special needs is an equal amount of hard work, but it is a different kind of energy you have to put into it. In Mira's situation, it is definitely more physical, it can be more emotionally taxing at times, and for our family, it never really gets any easier. It requires an extreme amount of patience, which can be difficult to exercise at times. We just keep getting older and so does Mira, which means the physical demands in caring for her increase with each passing year. However, Mira's physical abilities and skills have been pretty much at a standstill for the past 10 years, but her needs are always the same. She is and most likely always will be, 110% dependent on Sarah and I.

Through all of this though, there is a constant that I cannot emphasize enough, how grateful I am to have a consistent, caring, support system for our family, from one single person - Sarah. She has been and continues to be, the emotional glue that keeps this family bonded and unified. She has been the organizer, scheduler, accountant, rationalizer, equalizer, and emotional reservoir for this family that never dries up. Through unrelenting epilepsy, autism, kids, family, aging parents, and everyone else who needs something from her, she is constantly operating in giving mode, always providing for our family, at any given moment. She needs and deserves breaks whenever she can get one.

Thank you all for your continued love and support and I wish you all the best for 2019.

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.

Neurology

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.

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.

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.

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.