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.
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.
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.
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.
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.
