Sunday, May 31, 2015

Another Fussy Day

Mira had repeat performance of yesterday - irritable and tired most of the day, with a lot of strong myoclonic seizures in between. We went for a walk this morning and Mira was almost immediately unhappy. We stopped after a block and she finished off two bottles, which kept her content for about 30 minutes. She started having these 'lightening' jolts every once and a while - very sudden, brief jerks with her whole body - much shorter than a myoclonic, but equally as startling. She had maybe 20 or so within a 15 minute period and disappeared the rest of the day.

After a nap this afternoon, she again woke up crabby, so I tried running an errand to the mall with her to distract her. The car ride seemed to make her happy, but being in the actual mall was another story. Perhaps it was the loud music in the store we went into or the crowds, but whatever the case, we made our errand quick and headed back home. She continued to be fussy until dinner and went to bed a little early.

Saturday, May 30, 2015

Jinx


It never fails that as soon as I think or say Mira has been doing great, she spins 180 degrees in the opposite direction the very next day. Ironically, she had started to get mildly fussy last night before bed, right after posting to her blog. Starting this morning, she shifted it into high gear. She has been very irritable all day today, hitting her peak about 2:00pm, where she was literally wailing at the top of her lungs, with tears streaming down her cheeks, kicking her legs in every direction. We put her back in her bed, after exhausting all options, yet cried for another 30 minutes solid, before falling asleep for a nap.

She woke up having some very strong myoclonic seizures, which went on for about half-hour. The rest of the afternoon and evening, she calmed down a little, but was not happy in one place for long. Right before bed, we did a lot of racing around the house in her chair, which finally got a smile out of her. Mid-way through our racing, she perched her feet up on her chair seat and was completely calm and still. Then she started scanning the room, with the most serious look on her face, which is when I snapped this picture. She was quiet as a mouse before bed and is now fast asleep.

Friday, May 29, 2015

TGIF

It's been a long week, especially for Mira and Sarah, I spent part of the week in Louisiana on business and with the kids out on summer break, Sarah is pretty worn out by the weekend. Mira continued to have some intense tonic-clonic seizures the rest of this week, but has stayed in a pleasant mood throughout. She had another intense one late this afternoon. Mira rebounded pretty quickly from the seizure, so we decided to head down to the annual art fair a few blocks away. Mira enjoyed the walk, even laughing a bit at times.

Tuesday, May 26, 2015

Exhausting Seizures

Mira woke up this morning and was in such a great mood - happy, smiling, and full of energy while I was getting her changed and dressed. Then it all was wiped away by a huge tonic-clonic seizure after only two minutes in her chair. She was very lethargic the rest of the morning.

She continued to sleep through lunch and into the afternoon, then woke up and had a bottle, then had another big tonic-clonic. This one, just like the first, drained her completely. She was out the rest of the afternoon, but ended up stirring around in bed before dinner, so we got her up to have something to eat. She finished off a couple of bottles and we decided to run a few errands after work. I think she enjoyed the breeze in the van, but was very droopy and drooling a ton. She just looked exhausted.

Monday, May 25, 2015

A Happy Memorial Day

Mira is having a much better day than yesterday, which is great. The rain finally stopped (for now) and we were able to not only get out for lunch, but actually enjoyed it this time - well, most of it anyway. Mira did great at the restaurant for about 80% of the meal. As we were starting up desert, she started getting restless and irritable, so again, I took her outside and we stayed there until everyone else was finished. I had some desert in the parking lot. I wasn't about to try and do the merry-go-round again with her and we were far enough along through the meal, that it just made sense to stay out.

The brief fussy spell aside, Mira has been in a pleasant mood all day. We ran an errand just a bit ago and she was very vocal and full of energy. The eye-rubbing continues with a vengeance - in the car, in the restaurant, and everywhere else. At least she is stopping periodically, which gives her eyes a rest, albeit briefly. I've noticed she does it more when she is idle, so perhaps the trick is to keep moving all the time. Not very realistic, I know.

Hope everyone has a nice holiday!

Sunday, May 24, 2015

Irritable Outing

Mira has been having a rough weekend. Yesterday, we went out to try and have a family luncheon and Mira did not approve. It's always hit or miss and yesterday was was a definite miss. We lasted about 10 minutes into lunch before Mira started getting fussy, then proceeded to drink two back to back bottles, which helped for about 2 minutes. Even topping her off with a bottle and a half before we left the house didn't seem to have an impact on her appetite. After drinking all of that, she started squirming in her chair, trying to slither down as much as she could. I'm guessing she was either uncomfortable or didn't like the classic rock station they had on in the restaurant. All the shifting around caused her diaper to leak, which made her wet and uncomfortable. I got up three different times in about 20 minutes to take her outside to walk around, because she would not stop crying.

As Mira continues to grow, so do her vocal chords. She can get really loud and I feel like her cries echo across the entire restaurant sometimes. Depending on her level of discontent, it's best just to take her out of her element and try and get a change of scenery, which was futile this time. Waiting it out almost never works, as it would be extremely rare that her demeanor will improve. So, Sarah and the boys boxed everything up, while Mira and I waited outside, where she continually rubbed her eyes every second I wasn't holding her arms down.

We have another luncheon tomorrow with family - hopefully it will be a better outing.

Saturday, May 23, 2015

Eye Rubbing

video
Mira has been doing this a lot lately. Yesterday for instance, we went out to the park for about 30 minutes or so and she was fine for the first 15 minutes, then proceeded to do this for the last 15 minutes. She has been doing it indoors (sometimes), outdoors (very often), at school, at home, when its sunny, when it's overcast and cloudy - it doesn't seem to make a whole lot of difference how bright it is. She doesn't do it in her room a ton and yesterday it was much brighter inside than it was out in the park. Her teacher had to put sunglasses on her in the class, since she was rubbing her eyes raw this week at school.

I suppose we could chalk it up to allergies and try giving her a Claritin, but she seems to do it much more when she is outside, which leads me to believe it's the contrast with the sun. Sometimes it is an immediate reaction when we step outside the door and she won't stop until we go back in. Any thoughts?

Friday, May 22, 2015

Summer Begins with..........Seizures

Today was the last day of school for everyone, finishing out the year with a half day. The summer is always challenging for us - trying to find things to do for three kids, at very different ages, with very different interests. Mira is off for a few weeks, and then goes back for ESY (Extended School Year) which was cut yet again this year, limiting Mira's time to three days a week, for around three hours a day. Thanks Brownback, for your systematic, relentless degradation of Kansas' public school system, in favor of tax cuts for the extremely wealthy. You are a horrible excuse for an elected official.

Mira started off the day with a very intense, involved seizure, which set the pace for the rest of the day. She was completely lethargic at school and most of the afternoon, taking some extended naps in the car, in her chair, and in her bed. Hopefully this isn't setting a precedent for the rest of the summer.

We tested Mira's levels again this morning and they were again, very normal. Blood glucose was 82 and ketones were 0.2. We are going to give endocrinology an update after the weekend.

Wednesday, May 20, 2015

Mid-Week Energy

Mira woke up in a fairly pleasant mood this morning. She seemed to have loads of energy and wanted to cruise around in her chair, which we did for some time before the bus arrived. She thought the rain was hilarious, as it was coming down as she was getting loaded up on the bus. The report back from school was that she didn't care much for her Kidwalk, but otherwise had a decent day. SHe was a little crabby this afternoon, but nothing major.

We tested Mira's glucose and ketone levels first thing this morning, before she had anything for breakfast (basically after fasting for 9-10 hours) and they were 71mg/dL and 0.2mmol/L, again within normal ranges for both.

Tuesday, May 19, 2015

Another Busy Day

Another busy Monday and it was no surprise, because it's the last week of school! Mira's day started off having dozens upon dozens of strong myoclonics this morning, which is par for the course these days. She stayed in a decent mood, despite all of the activity. After she was on the bus, I headed to work and stopped by the endocrinology clinic to pick up a glucometer/ketone testing kit, so that we monitor Mira's glucose and ketones for the next few days.

So far, I am not overly optimistic about my GSD theory, as Mira had two enormous tonic-clonic seizures this afternoon. About an hour later, we tested her blood sugar and ketones. They registered 111mg/dL and 0.2mmol/L, respectively - both well within normal ranges. We will test her again in the morning and monitor her for a few days before we abandon the idea.

We also spoke with Mira's neurologist and he nominated her to be admitted into a whole exome study through the hospital, which is no guarantee she will get in, but it is the first step in the process.

Monday, May 18, 2015

Epilepsy Panel Results + More

Today was a busy day. First and foremost, Mira's comprehensive epilepsy panel results came back and while they did find a mutation, it is not likely that this is the cause of Mira's relentless seizures. The exact report was: a heterozygous missense sequence variant in exon 11 of the TPP1 gene, p.His435Asn (c.1303C>A). I don't understand the significance of the location of the variant, but I do understand that since it is a heterozygous mutation, she still has one functioning gene, thus making it unlikely that the variant in the TPP1 gene is relevant to anything. The complete profile on this particular gene can be found here.

On a completely different note, I have been inquiring with the endocrinology clinic, as well as neurology, in regards to GSD-1. GSD (Glycogen Storage Disease, Type 1 in particular - there are 9+ variations on this disorder) is an issue where the body cannot properly process glucose, which leads to an almost constant state of hypoglycemia. I have been reading one of former neurologist's notes from way back, which I have mentioned before. All of his notes, along with observations of Mira's demeanor and seizures, has led me to discuss the possibility that she has some sort of GSD. Based on her symptoms, I would guess that it would be most closely related to GSD-1 or GSD-0.

One of the biggest 'clues' I suppose is the fact that Mira wakes up every single morning, without fail, having seizures. Most of the time they are myoclonics and often they lead into bigger tonic-clonics, but they are always present. I have often questioned whether this has something to do with her potentially being hypoglycemic, which is a huge factor for those with GSD.

After some correspondence with endocrinology and neurology, we have decided to conduct some glucose and ketone monitoring at home with Mira over the next week, using a glucometer and Ketostix. We will see where all of this might lead.

Sunday, May 17, 2015

Saturday Night at the K


We enjoyed most of the Royals game last night, before the severe weather started rolling in around the 6th inning. They managed to finish the game before it all became serious, but we cut out early in time to not get caught in the torrential downpour that ensued shortly thereafter. We were about 3 miles from the house when it really started dumping. Tornado weather in Kansas always keeps things entertaining.

I have worked at the same firm, off and on for the last 16 years and every year, our office puts on a nice tailgate for all employees, family, and friends, which depending on the size of the firm at the time, can get upwards of 300-400 people. Over the years, we have brought Mira to the tailgate, which never seems to end well. Our worst year, 2 years ago, Mira lasted about an inning and a half before she was wailing at the top of her lungs and we had to leave. Mira isn't a big fan of the noise, nor being up past her usual bedtime. We have decided not to take her for the last two years and hired a sitter, which I think everyone was much happier about, including Mira. Our sitter called and said that she had a big seizure about 5:30pm, right before dinner, so it was probably good that she was at home. Yet overall, she had a pretty decent day - no events until the seizure.

Despite the fact that the Royals lost 5-1, we can hang our hat on the fact that they pummeled the Yankees 12-1 the night before and are still tied for first place in our division. Go Royals!

Friday, May 15, 2015

More Seizures

Mira's week came to a close by having more big seizures. She again had one this morning and a few more this afternoon. Same scenario - lots of myoclonics that lead into bigger, heavier seizures. She has been in a great mood since last night, but the seizures just wipe it all away. Apparently at school she was very enthusiastic during music, enjoying the drum and hearing all of the other kids making noise.

We are expecting another rainy weekend, plus the swing next door is still out of commission, so we are going to have to figure out ways to get out of the house. There's never a shortage of errands to run - Mira usually enjoys just getting out sometimes, no matter what we are doing.

Wednesday, May 13, 2015

Rough Seizure Day

Mira had a rough Tuesday - she a couple of really intense seizures. The first one was right after school and another one before dinner. Rather than keeping her from enjoying the beautiful weather after both seizures, I took her outside on the deck while I cut the grass. She was pretty knocked out for a while, but she slowly came around and quietly enjoyed the fresh air. She went to bed early last night and again this evening. Today she had a decent morning and an uneventful evening. She became pretty fussy right after dinner and really just seemed more interested in going to bed.

Monday, May 11, 2015

Siren Noises

video

For a Monday, today was unexpected. I was a little skeptical when Mira woke up crying, then started off the morning with a ton of myoclonics in her chair, then became fussy enough to have to head back to bed after only 20 minutes. By the time the bus arrived, she turned around a bit.

At school, turns out she has a pretty decent day - she was vocalizing a lot and making good eye contact with items presented to her. She was up an down a little this afternoon, but nothing major. The fun started after dinner, when we went out to the park and walked around a bit. Her swing is currently out of commission, as the parks department is building a concrete path up to the swing, making it easier to transfer kids directly without having to try and run a wheelchair through the mulch. We are very excited and appreciative what the city has done to accommodate kids with special needs. Every city should take note.

Anyway, we decided to walk around the block, which Mira was very excited about. By the time we got home, she was consistently vocalizing, even for another 15 minutes after we had stopped. She pretty much sounded like a siren.

Sunday, May 10, 2015

Irritable Day + Eye Rubbing

Mira was irritable for most of the day. Between naps and her toy, not much else would keep her happy for more than a few minutes. She had a lot of myoclonics this morning - similar to yesterday, many of them were on the verge of something more involved. This afternoon was especially difficult for Mira - lots of head drops and very fussy.

Unfortunately, we couldn't get outside much because of the rain and when we did get out onto the deck for a few moments, Mira would not stop rubbing her eyes. It was very overcast all day long, so it wasn't the sun that was bothering her, but perhaps the contrast of being outside. As soon as we got 2 strides out onto the deck, Mira immediately started furiously rubbing both of her eyes and would not stop - we even tried holding each hand down briefly to break the cycle. We tried putting an umbrella on the back of her chair to create less contrast with the sky, but nothing stopped her. After a couple minutes, the sides of her eyes were red and raw from her rubbing them with the outside face of her wrists. As soon as we stepped back inside, she immediately stopped. Definitely not allergies, as she would abruptly quit when we were back in the house. We tried on several occasions, but each time, the eye-rubbing prevailed. Very strange behavior for Mira and so consistent.

Saturday, May 9, 2015

On the Verge

Mira had a fairly quiet day today. Last night, her streak of staying up late came to an end, as she went to bed at her usual time. She woke up this morning in a fairly pleasant mood, but was a little up and down the rest of the day, especially late this afternoon. We spent some time out in the sun briefly this morning, while it was still decent out, which Mira seemed to enjoy. Dark clouds and rain kept us indoors most of the day.

I suppose the event of the day was when Mira was having all of these seizures, ones that were on the verge of erupting into a full-blown toni-clonic, but they never did. She had a bunch of myoclonics this morning, one of which sort of turned into a fairly intense episode. The rest of the day, she would have a cluster of head drops, many of which looked as though they were slowly evolving into something bigger, but sort of fizzled out.

Seizures are seizures and I suppose it's all relative, but the ones today were somewhat strange for her.

Friday, May 8, 2015

HB2282

So as the Kansas session is winding down and ready to close up shop for the next six months, HB2282 (in its amended state) is all that remains for the potential for medicinal cannabis in Kansas, and HB2282 is on life-support.

I'll never understand why so many politicians are so uneducated and easily misled when it comes to the issue of medicinal cannabis. Perhaps they are misinformed.  Apparently, misinformation is running rampant at every turn. Well, here are 131 legitimate abstracts from PubMed, dating back to 1968 to get you started. Here are another 16,800 links through Google Scholar on the subject of epilepsy and cannabis. By the way, the American Academy of Pediatrics (AAP) has endorsed it for debilitating illnesses. By the way, 23+ states have already legalized it for medicinal use.

I truly hope someone in Topeka can exercise some compassion for families and children, like ours, and advocate for HB2282 to have an available medical treatment option to potentially stop Mira's chronic, relentless seizures.


Wednesday, May 6, 2015

Night Owl

Mira has been staying up late this week - each night is later than the one before. Tonight she was up another hour and a half past her usual bedtime once again. Her stamina for staying up late, playing with her toy, or just chilling out in her chair, has escalated this week. She hasn't been sleeping in late in the morning, nor sneaking in power naps at school, so we aren't sure why. Most of the time, she has been in a decent mood, so no harm in letting her stay up late. Tonight, she even enjoyed a bath, without so much as a whimper.

On another positive note, we heard back from GeneDx today and they have worked out coverage with our insurance carrier to cover Mira's comprehensive epilepsy panel. This would be step one in being able to keep our current neurologist. Of course if the panel comes up empty and we are still without an official genetic diagnosis, we will need to find a new neurologist in clinic, as our current one is drastically reducing his patient load because of a change in his role within the hospital.

Results from the panel are supposed to be back in 4-6 weeks.


Tuesday, May 5, 2015

The Rain Returns

Mira had an up and down day today. I was feeling very optimistic this morning, that our streak of two consecutive positive days would continue through the week, but we end the streak at two. Mira actually woke up in a pleasant mood, after staying up late last night. Her demeanor slowly turned south as the morning wore on - refusing to drink anything, refusing the toy, and not at all happy about getting back in her chair to get on the bus.

The report back from school was that she continued to be up and down. Didn't care to get into the Kidwalk and by the end of the day, was most certainly done and ready to go home. She settled down this evening after dinner, finishing a fair amount drink and smiling as we ran laps in her chair around the house.

It's suppose to rain for the next 4 days solid, so getting outside might be a challenge. We considered packing up to go to the park, but the dark clouds and periodic sprinkles kept us inside.

Monday, May 4, 2015

Quiet + Peaceful

Mira has been pretty quiet over the past two days. Yesterday, we took a nice trip down to the City Market to have some Vietnamese for lunch and Mira was uncharacteristically quiet through the entire meal. She even napped through part of it. It was either a great time of the day to go or Mira was just really tired out. Either way, any time we can get out as a family and have a meal in public, without having to eat 100 miles per hour or exit the restaurant prematurely, it's a gift. I'll take it.

We finally finished our deck in the back yard, only 6 years after finishing the addition. Better late than never, I suppose. We had some exceptionally nice weather yesterday and were able to spend some time on it - Mira really enjoyed the warm breeze and being in the back yard, without having to take the long route around the side. Afterward, we went out to the park and walked around for a bit.

Mira was up late this evening, going to bed about 90 minutes past her usual bedtime. She really was interested in playing with her toy, while periodically downing 3 bottles the last 45 minutes she was up. She only had some myoclonics this morning and virtually no seizure activity at all this evening.

All in all, a nice couple of days and evenings for Mira.

Saturday, May 2, 2015

OAs + IEMs

Mira had a few decent days toward the end of the week, but ended yesterday by having another intense tonic-clonic. It's really heartbreaking to watch her be in a great mood, smiling and even giggling, then have a seizure that completely wipes all of that out.

I have been consistently following up with GeneDx with Mira's comprehensive panel, but the only response I get is 'we are looking into it and will get back to you shortly'. All we really need is a confirmation on whether or not insurance will compromise and pay (not likely) or to see if we can get it for a reduced, out-of-pocket rate (perhaps more likely) but we need to know what that number is, if there is one. They originally told me that it was going to be around 72 hours before they can formulate a response - that was over two weeks ago.

I also have started looking into OAs (Organic Acidemias/Organic Acidurias) which is something I have come back to time and time again, based solely on her neurologist's notes years ago and observations we see with Mira every day. Early on in this epileptic journey, when Mira was about a year old, she had labs run that came back several times with elevated beta-hydroxybutyrate (BHB) levels, with lactic acidosis. She also had an  elevated pyruvate level on several occasions. We were told that what was most noteworthy was her consistent elevated BHB levels, which could be a sign of a ketolysis disturbance, which is more of a metabolism issue (IEM - Inborn Error of Metabolism). At the time, her neurologist ran testing for GLUT-1 and a few other OAs, but came up empty, I believe.

Mira has also periodically has 'altered' days - days where she is really out of it. Clammy, cold hands and feet, very lethargic, and staring into space, almost to the point of being unresponsive. We have brought this up with neurologists in the past and they have chalked it up to dystonia. I have always wondered if these could be considered metabolic crises.

I have asking her current neurologist about the likelihood of Mira having an OA, IEM, or something in that realm and am waiting to hear a response back. Never hurts to ask questions and to keep looking.