July 2016 - Our First week long EEG

After meeting with the doctors over the past 9 months, they recommended we did a 1 week stay at Children's Hospital for a 5-day EEG to capture seizures to identify where they were coming from.  Charles was a trooper.  Unfortunately at one point, we went to look out the window (remember, he has a fear of heights) to see brother David looking for a Poke'mon Go spot.  And all of a sudden, he had a grand maul seizure.  I felt horrible, but the doctors had lowered his meds in order to induce seizures that week, so I guess we got some info we needed, but they are such awful seizures, they always make me super nervous.

He was sure happy when he was done and they washed his hair in preparation for going home.

Kindergarten and Swim Team/Summer 2016

I'm doing a little "catch up" but Kindergarten (2015 to 2016) went pretty well.  He was able to go to school almost every day.  He also swam on his neighborhood summer swim team and he did GREAT.  He won almost every race, a real natural.  He only had a couple of minor, minor seizures when in the pool (we watched him closely) and a few at the park when it was play time on Friday nights with his teammates.    We also had a trip to Vail for an annual work conference I go to (and bring the family)...on the drive up he got SUPER car sick so we had a detour to Vail Hospital (hence the 1 hospital pic) but looking back on it, I think it was some seizures in his belly, which has also happened since then.  We were in Vail during the GoPro events so that was a super fun weekend to be there.  Charles went to his first concert (didn't last long, as loud noise and crowds are a couple of his triggers).  He loved swimming at the hotel pool, eating ice cream, and trying out his slack line skills.  We also had a trip up the Gondola (for which he didn't look overboard, fear of heights also a trigger, and a big one).   Summer 2016 went pretty good, but when we started 1st grade and in school all day, it all went downhill for his seizures. 

Sunday Worst, Not Best

As we do every Sunday, we went to Church but during Sacrament Meeting, Charles' seizures were getting worse, so we went home early.  He must have had 50 seizures in 1 hour, poor baby.  So we left the other kids at Church with Grandma Dianne and Aunt Sheila and we took him to Children's Hospital in hopes maybe he could get an IV dose of anti-seizure meds.  It was the South Campus, but they couldn't help him.  So we made a follow up appointment for that week with his doctor, Dr. Miller who increased his meds again.  However, I want to point out, at that appointment, he noted the "pain" that Charles was having as not normal.  I thought it was odd, because Charles has ALWAYS had pain with his seizures and I assumed ALL kids (or at least most) experienced the same thing.  It would be months before I found out that was extremely rare.   And, no wonder he has such a high pain tolerance.   

Back with a Vengence - always December and January

Update - The first week of December (2014), when Ken was out of town, Charles had 2 seizures - one of them was while he was asleep - woke him up about midnight - so David saw it and took care of him until I heard him and ran in.  Luckily it happened to be a night I couldn't stop coughing (I had been sick the week before) so I wasn't asleep yet.  I think the weird/random coughing attack was a blessing so I could hear him.  He had another the next day and then things calmed down for a couple of weeks.  Then, when Tessi/Jordan/Quincy/Izach were visiting for Christmas, he had another on December 23...we were all in the family room watching a show, when Charles fell off the ottoman...first time he's fallen off something while having one since usually we have a little more notice that its coming.  Anyway, so that was the first time Izach and Tessi had been in town for a seizure.  So, we tried to have a calm Christmas.  Then, on January 29, 2015, life got a little rougher (4 days ago).  At 8:30am, Charles got his toe slammed in a bedroom door.  Sheila and I took him to the ER because it was obvious it needed some attention.  The Dr. numbed the toe with 2 painful shots - both of which Charles didn't even cry for - he was like a mini-superhero.  We spent the day at Grandma's house so Sheila and I could get a little work done while Charles re-couperated from toe ER visit.  A few hours later, he started having leg pains - like the "leg tremors" he's had over the years.)  By 4pm, he had 3 full blown (tonic-clonic) seizures (used to be called "Grand Maul).  Luckily, I finally got one on video (Thanks Sheila).  I have no idea of the pain from the toe put him in a tail spin into seizure land, but it sure seemed like that.  Anyway, we gave him clonazepam to stop the seizures.  He did okay for a couple of day, so we decided to go to Church.  I explained to his primary teacher that if he had any leg pains, to come get me...he did. At 11:30, he was in a lot of pain, by Noon, Grandma and Sheila were driving us to the hospital and Charles was screaming in pain.  I gave him 1 clonazepam (Sheila had one in her purse at Church - yay!)  The ER couldn't do anything for him and amazingly, he didn't have a seizure.  I guess he got the medicine just in time to stop it.  Then, we spent the afternoon watching the super bowl at home with friends and family.  Monday morning (today) he woke up with leg pains at 7:45 and had a seizure by 8am.  If he needs to use the bathroom before the seizure, he loses control of his bladder, so today and once last Thursday, he wet himself immediately after the seizure stops - when he has NO muscle control and is like a limp noodle from head to toe.  Poor kid! I just love this boy and SOOO sad for what an awful time he's having! I have a new appreciation for parents with special needs kids - I always thought he was special need in his own way, but this last 4 days has been x10.  I am hoping he gets through this in the next day or so and then magically has months of healthy living again.  I spoke with the neurologist and he said he still wouldn't put him on daily meds yet, since the rest of the year he usually does pretty well...but if this pattern continues, we might change our minds - I think he's had about 8-9 seizures in the last 2 months.  He's keeping track of them. What's interesting is that he now is very aware of when they are going to happen, asks for his medicine, requests holding my hand, keeps track of them and makes comments like "well at least the seizure stopped the leg pains"...he's so smart...he's decided he can't start school (kindergarten) in the fall...he wants to continue with "mommy school" - we'll see. :-) Thank you to everyone who has helped care for him this past couple of months - especially Sheila and Grandma!

Here is a picture of his toe and below is a video of his seizure...BEWARE, if you are sensitive, I wouldn't watch it, but if you want to know what his 45 second seizures are like in case you're ever taking care of him and need to know...click on the video (not sure it will work, but trying to upload it).

Take a hike...

I haven't blogged in about 6 months.  But, Charles has had a good year all in all.  He has 2 neurologists now...1 to manage his seizure disorder and 1 to manage his movement disorder. Because they are so under control, he's not on medicine for either, so that's great.  The movement disorder dr still thinks he probably has PKD even though the genetic testing came back negative.  Charles loves to run and hike.  He still sucks his thumb, but most of all, he LOVES to cuddle with mom.  I secretly hope and pray every day that today is the day he stops growing...he's my BABY! I don't ever want him to leave me!  We've told his bodies' issues to take a hike, so we can take more hikes, and that's what we've done.  Thank you to everyone for your love and support and prayers over the last 4 years.  It must be working!

Spoke too soon...leg tremors increase in frequency

So, over the last month, Charles has had about 5 days of leg tremors since our dr. apt that was at the end of February.  So, I called the Dr. at Children's and she recommended we try a daily medicine to prevent them (or to minimize them), For lack of a better method, I'm including the medicine dosage the nurse sent me in an email.  I haven't looked into it yet, and I haven't picked up the medicine from the pharmacy yet (just got the script 2 days ago)...because I'm of course reluctant to start him on meds again.  They could make him sleepy and he finally got some energy a year ago when we stopped meds.  Its Spring Break this week and we're watching General Conference today, so I thought it was a good day to update his blog.  He had a fun week of temple walks, swimming, museum trip, zoo outing, etc.  I'll share some pics that are NOT at the hospital. :-)

The blood work he had done last month to see if he had the gene that could cause PKD is not back yet...gene results from blood work can be up to 2 months to get the results, I'll post when we get the results back.

Medication: Trileptal 300mg/5ml

	AM Dose	PM Dose
Now	0	0
Week 1	0.75 ml	0.75 ml
Week 2	1.5 ml	1.5 ml
Week 3 & on	2.5 ml	2.5 ml

Trileptal Possible Side Effects: rash, stomach upset, sleepiness, less likely irritability

Goals of tone management: decrease dystonia enough to improve motor control without causing worsening secretions, further impaired swallowing, increased weakness or excessive sedation

Our goal in this drug titration is to relieve symptoms and not cause side effects. This titration schedule is my initial suggestion for a dose which is likely to relieve symptoms. That being said, every child responds in their own way to medications:

If at any point along the titration schedule, there are side effects, please call and we can make adjustments in the medication or would consider discontinuing it altogether.

If the symptoms are significantly relieved before you reach the goal dose in the schedule, you can hold it at the point where you feel the symptoms are well treated.

If the symptoms are well managed, but then worsen as you increase the dose per the schedule, I would recommend reducing it back to the previously well-tolerated dose.

If no side effects at the goal dose, and it is not effective enough to control the abnormal movements, then we can increase slowly to a higher dose with a max goal of 60 mg/kg/day which is 10 ml twice per day.

New Diagnosis? PKD Maybe?

I haven't blogged in a long time.  I'm waiting for lab work to see if he has the gene, but we went to a new dr.  (Abigail Collins) at Children's Hospital last week who is a movement disorder neurologist (instead of his normal epilepsy neurology dr.) because he and I both thought Charles probably doesn't have a typical epilepsy diagnosis.  Anyway, long story short, he was diagnosed in the exam as potentially having PKD (paroxysmal kinesigenic dyskinesia).  Just this past year, there became a link for kids with the PRRT2 gene mutation with PKD...but not having the gene, doesn't mean it's not PKD.

Anyway, it's a very interesting fit...it better describes his experiences. He would NOT be medicated for it at this point, because his leg tremors aren't often enough. YAY! you can google it, but the article the dr. printed for us is the official case study (i only have in print form) and you have to have a dr/membership to download it. anyway, i will share more later, but wanted you to have an update (still no FORMAL answer, but this is a possibility).

Paroxysmal kinesigenic dyskinesia (PKD) is a rare disorder characterized by short episodes of involuntary movement attacks triggered by sudden voluntary movements.