Tuesday, May 31, 2016

Memorial Day Weekend

Memorial Day typically reminds me of two things - thinking about all of those who have served and died for this country of course, but it also marks the anniversary of when Sarah and I moved into our house. It has been 17 years now, with age of the house starting to truly show. It is your typical post-WWII house, built in 1953, when this particular area in Kansas City was no more than a corn field. The original windows and garage door have been literally falling apart over the past few years, so this is the year of having to ante up and fix some of the crumbling facets of our tiny ranch - we had the garage door replaced last week, the windows will be replaced mid-summer, and then the entire house will get scraped and painted after the windows are installed. We haven't painted the original part of the house for at least 10 years (with the new addition being painted in 2009) and it is really starting to look awful. We tried to tackle some other issues around the house over the extended weekend, in between the rain and the humidity. Raining and windy one minute, hot and muggy the next.

Mira has had some quiet moments, mixed in with some moments of extreme irritability. Yesterday, she became very fussy, crying at the top of her lungs at one point, combined with some random 'silent screams', where she is so distraught, it takes her a few moments to actually work up, and then release a long, extended exhaling cry. It all seemed very random, yet she was very twitchy all day yesterday, so I have no doubt there was something neurological that was bothering her. Today I had to go back to work and Sarah texted me about 30 minutes after I left and told me Mira was inconsolable. She cried for a solid 30 minutes, then took a long power nap. She was fairly reserved the rest of the day.

She has had some positive moments though - yesterday, we were sitting out on the deck (pictured above) in the late afternoon and Mira was enjoying the wind and sounds coming from the park next door. She kept hearing the birds in the trees and would turn her head, then be completely still, with only her eyes quickly scanning to try and figure out where it was coming from. A couple of birds were fighting and making a bunch of noise, and Mira started quietly smirking, almost on the verge of a laugh. It was pretty cute. She kept her legs extended out the entire time we were outside, which was an hour or so - I don't know how she finds that comfortable. It looks like a constant abdominal workout. Regardless, she seemed to be simply enjoying rocking in her chair quietly absorbing the sounds of the neighborhood. 

Friday, May 27, 2016

The Long, Long Week

This has been an extremely long week for everyone. First off, it was the first nearly full week of school (technically they had a half-day on Monday) - second it has been raining heavily nearly every day, which has kept the kids indoors, and to top it all off, we started summer hours at my work. Summer hours basically means 9 hour days Monday through Thursday, then a half-day on Friday. It never seems to work out, trying to get out early at a reasonable time on Friday, as almost everyone else I work with (clients and consultants) are expecting you to be there - thus, the emails, meetings, and phone calls continue on as they do. It just gives you more work to do one Monday or in the case this weekend, on Tuesday. Regardless, this first week of summer break all seemed to hit at once and I don't think Sarah and I were prepared for it. Only 2 1/2 months to go.

Mira has been very quiet and subdued this week for the most part. She had a few moments yesterday, but overall, she has been sleepy and lethargic. I think all of the rain has been making her tired - not a whole lot to do when we are trapped inside and it makes it very difficult to keep Mira from getting drenched when simply out running errands. We managed to get out today and had some celebratory end-of-the-school-year ice cream at Murray's, which is one of the best ice cream joints in the Kansas City area. Mira was very sleepy throughout the trip, slouching over quite a bit and not showing interest in much of anything. She was having some strange movements early this morning - some obvious seizure/neurological activity going on, which may have added to her tired demeanor.

Tuesday, May 24, 2016

More Seizures

Mira did not have a good last day at school yesterday. She ended up having a lot of episodes - multiple seizures within a short period of time, similar to the seizures she has been having every few weeks. It started when she first arrived at school and both the teacher and paras noticed she was off. Moments later, she erupted into a string of seizures. The cycle stopped after about 20 minutes, again, similar to what she has had in the past. Fortunately, it was only a half-day and the seizures/movements subsided within a short period of time. Today marked the official first day of summer and it started off with Mira having to go this morning to get her stitches out from her biopsy. She had the first appointment of the day, with the rain still going, after pouring all day yesterday. Mira was soaked by the time we got inside, not so much from the rain, but from wiggling in her car seat, which rearranged her diaper, which caused it to leak, which in turn, soaked her and the car seat both. Her stitches came out relatively easy, except for the last one, which was very tight. I changed her in the room afterward, went back outside in the rain, back into the wet car seat (as I had no towel to put down to protect her) and went back home. Then changed her into her third pair of pants, all before 9:00am. She would go through 2 more pairs of pants by the end of the day, all from wiggling so much. She just has days where she wants to see how many pairs she can go through in a day.

Sunday, May 22, 2016

Heavy Seizures

I seem to have a habit of jinxing things - in my last post, I mentioned that Mira had not had any tonic-clonics all week. Well, the streak ended yesterday, when she had a big seizure when she was waking up from a nap in the middle of the afternoon. She did the exact same thing today - another intense tonic-clonic after waking up from a nap, at nearly the same time. The seizure today completely knocked her out, right before we were ready to head out to the door for a graduation party. We waited it out for a while before we walked out the door, but Mira continued to be pretty floppy and lethargic in the car. She eventually started to perk up at the party - I think being out in the sunshine and wind helped bring her around some. Her legs were extended the entire time and her hands and feet were slightly clammy. She was still reserved and rigid when we were back at the house and she ended up going to bed earlier than usual.

Friday, May 20, 2016

Healing Up

Mira has been healing up nicely from the biopsy last week - no redness and no irritation whatsoever. We have been keeping it protected of course, with the only concern being the height of her side lateral supports on her chair, we thought it was going to irritate the incision area under her arm. Fortunately, it wasn't an issue. She is taking it all in stride. Her week has been uneventful and quiet, with today being her last full day of school before summer break. We haven't seen any big seizures at home, but she had some subtle ones at school earlier in the week - none over the past two days. She has been tensing up quite a bit, making it a challenge to keep her legs down to get her dressed and changed. Not sure why she is doing this all of the sudden - we just started seeing more of it over the past few weeks. It has been raining nearly every day here, making it difficult to get outside. It supposed to be nice this weekend, then start raining again, all next week. Next week will be our official 'getting settled into summer' week, which is always a challenge. Eli and Jonah have already written school off, checking out at the beginning of the week by counting down the days left.

Tuesday, May 17, 2016

Royal Outing

Yesterday we had our first Royals outing of the year, celebrating it at my company's tailgate and taking in a day game at the K. It's always a gamble how the day is going to pan out - we have been to a number of tailgates with my office over the years and they have ranged from decent to catastrophic. Mira had a couple of bad years, where she was absolutely miserable, thus we have ended up leaving in the second inning or sometimes even earlier. Other years, the kids have lasted a bit longer, but not much. Yesterday however, I think all of the stars aligned, the kids did great, and we lasted 7 innings. Constantly occupying everyone with cotton candy, frozen lemonades, hot dogs, and popcorn I think helped the cause. Mira finally started getting fussy in the 7th, probably because she just wanted out of her chair or just wanted a change of scenery. The minute we started moving, her mood improved greatly. We meandered through the team store and got Mira a pink Royals shirt and headed out shortly thereafter. Ironically, the game went into extra innings, with the Royals finally winning in the 13th. We were able to watch the end of the game at home, while Mira finally got some down time in her bed.

Friday, May 13, 2016


Mira went in for her biopsy late yesterday afternoon and everything went off without a hitch. Afternoons have never been a great time of day for her, but she managed it all very well. She finished off two bottles in the waiting room before we were even started, so with only one bottle remaining, I was a little nervous I wouldn't have any tactics if things became dire. Not that she could have had a bottle during the procedure, but certainly it would have helped afterward. One thing is for sure, Mira is very strong, so we had four of us to help stabilize her for the biopsy. I wasn't too worried about her straining or fighting per se, but rather wiggling her way off of the table, as there were no side supports or anything to brace her. Thus having a nurse on either side, me at her knees, and the doctor actually doing the procedure, we all were working in unison to make sure she was safe. Mira fussed at the beginning of it all, but she was mad before we even put her on the table. About half-way through, she quieted down and almost seemed as though she was going to fall asleep. The total time she was actually on the table was less than 15 minutes.

We kept her home from school today for several reasons - one to keep a close eye on her, but second, to not have any worries about transfers at school. The incision was made under her right armpit, which is a prime spot when picking her up. Sarah and I both have our tactics for transferring her and I have always looped my hand under her left side, which makes it fairly easy to not mess with opposite arm. Her teacher and paras at school have different methods. She has been doing fairly well today - a little tired, but nothing unusual. We have to take her initial dressing off tomorrow and then back to the have her stitches taken out in 2 weeks. Even after our neurology appointment last week, we were still on the fence about having the biopsy done in the first place, as we hate putting Mira through testing, especially one that involves an incision and stitches. Testing for NCL or any sort of storage disease is rare, so I believe the yield with this is very low. If something were to surface from this, it would be bittersweet I suppose - at least we would know and we could better target appropriate and relevant therapies for her. We have always hated putting Mira through the MRI or spinal tap process too (she hasn't had either one in years and we don't plan on having another unless absolutely necessary) with the very involved process of sedation and recovery always taking a toll on her. The biopsy process seems to fall into that realm too in some ways, as she will have soreness and undoubtedly some amount of recovery. Our neuro told us to expect the biopsy results back in 4-6 weeks.

Monday, May 9, 2016

Glasses, Hats, and Palms

It was a long weekend - the kids had a half-day on Thursday, then no school on Friday, which gave them a nice extended weekend, two weeks before school is out. I'm not sure who conjures up the school district's end of the year school schedule, but it seems to gets increasingly ridiculous with each passing year. Their final day of school is on a Monday and it's a half-day. What is the point? Regardless, the kids always enjoy getting an extra day off, especially on a Friday. The weather on Friday and Saturday was perfect - sunny and cloudless, which we saw as a good opportunity to stay outdoors, plant some tomatoes, and rebuild the fence on the side of our yard. Mira's mood has fluctuated wildly over the past week, so we were trying to break it up by staying outside in the fresh air. However, Mira was not always up for it. She was not up for wearing her glasses much or the hat that we tried to keep on her either. She has mastered her technique of maneuvering a single finger along her right temple, wrapping it around her glasses, and flinging them on the ground. We can catch them about half the time before they go crashing on the floor. The hat we tried (to keep her from rubbing her eyes once the glasses are off) didn't last much longer than the glasses. She simply grabs the bill and pulls it to the side. Mira has also been in her defensive position much of the day, which involves clenched fingers into her palms, arms up and at her sides, and her legs fully extended. We haven't seen much seizure activity this past week, yet at school today, she had a host of small seizures and she was very tired and lethargic all day.

Friday, May 6, 2016


We had a neurology appointment with Mira yesterday, her first since October. Frankly, it was one of the most straightforward appointments we have had in a long time. We went over Mira's current medications, giving her neurologist an update, primarily since we weaned the Vimpat. Since taking that out of her medication regiment, we started her on fluoxetine, which seems to have helped some with her irritability over the past few months. After all of the updates, we discussed Mira's upcoming skin biopsy, which is scheduled for next week. She is having the biopsy done to rule out NCL (Neuronal Ceroid Lipofuscinosis) which would show an accumulation of lipofuscin in the skin. We did discuss Mira's poor vision, along with the heterozygous mutation of TPP1 which they found in a genetic screen, and how both of these might point to  the possibility that she has NCL, which is why her neuro suggested the biopsy in the first place. After describing her vision issues, he basically said it was highly unlikely that her poor vision is related to NCL, since they didn't see anything abnormal during her ophthalmology appointment earlier this year - no storage or pigment issues with her vision or retinas, which is a hallmark sign of the disease. Nonetheless, he encouraged us to go ahead with the biopsy, since he has a current patient who does have a heterozygous mutation only, that did test positive for NCL. Anything is possible and the absence of retinal deterioration does not completely rule out NCL. I'm still on the fence about it, since while the biopsy is an outpatient procedure, it still is invasive in that requires an incision and stitches. I have always found our neurologist as very insightful and I trust his judgement.

Wednesday, May 4, 2016

Busy Tuesday

I think all of our energy for the week was used up in one afternoon. I had been working on a proposal at work for the past several weeks, with some late evenings to get to where I needed to be for a presentation yesterday afternoon. As I am gearing up to start the presentation, I happen to glance at my phone and saw that Sarah had called me 4 times and texted me twice, within a span of about 5 minutes. The battery in the van died and she was stalled at the back of the school, where she was in the pickup line to get Jonah. Had it been any other day, I could have left to pick her up, since my office is not that far from the house. The problem was, even if I left immediately (as I couldn't because of the meeting) I wouldn't have been there in time to pick her and Jonah up, then have to race immediately home to meet Mira's bus. Every school afternoon, Sarah has to have all of the stars align - she has to pick up Jonah at his school, be home within 15 minutes or less to meet Mira's bus at the house to get her, and if the weather is not cooperating, turn around and pick Eli up at his school. If there is one little hiccup, say like a dead battery, the schedule crumbles. So, Sarah had to call the bus company, who in turn called dispatch to contact her bus directly, who offered up the idea to drop one of the other bus riders off first, in order to give Sarah enough time to get back to the house. Several phoen calls later, they had the drop-off sequence sorted out. Great - but it didn't solve the problem with the van, so Sarah and Jonah had to walk back to the house and leave the van at school. I finished my meeting, left early to pick up a battery, went back to the school, and switched the batteries out. Then, the door wouldn't shut on the van - I spent 15 minutes trying to figure out why the passenger side sliding door wouldn't close, but it finally gave and I was able to finally get it back on track. The van is 10 years old now and is slowly showing its age. I then rushed back home to change, leaving Sarah to fend for dinner with the kids, as I had committed to a corporate softball practice early that evening. Sarah was fried already as I was walking back out the door. Despite all of the craziness yesterday, Mira was in good spirits, up until this afternoon, where she was wailing at one point - probably just hungry but possibly just tired, as she had a bunch to eat, then completely cashed out early in her bed. Our busy week will continue tomorrow, as we have a neurology appointment in the morning.