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.

2 Months No Seizures, 1 Week of Seizures, OFF MEDS

In early 2013, I felt inspired to take Charles off his daily seizure meds.  They weren't helping anyway, and I don't know what harm they could do if he doesn't necessarily need them if their not helping! So, with the blessing of his neurologist, we weened him off over a month period.  He had NO seizures for 2 months, so I thought maybe we turned a corner.   Then, he got sick and the seizures returned for about 4-5 days - each day he had 1 tonic seizure, in addition, he also had these leg tremors I've described in the past.  We video taped them and sent them to the neurologist and he said those aren't seizures (which we knew), but maybe a side affect to the actual seizures, the medicine he take when he's actively having a seizure (clonazapam), or the illness (cold).  We met with his neurologist on April 1st and he agreed to keep staying off the daily medicine and only give him clonazapam when he gets ill and they return.  Well, in mid April (about 10 days ago), he got another cold and I was like "okay, we should see some seizures any hour or day now"...but we didn't! I believe this was the first time he's ever gotten sick where he didn't also get a seizure to accompany it, or as a result of it (minor fever also).  So, in 3 months, he's had 1 bad week...not bad considering he's not being medicated on a daily basis anymore, and he had been for 2 1/2 years.

His birthday is this weekend.  For his first and second birthdays, we kept it REALLY low key since he doesn't tolerate too much commotion.  I think we'll do that again this year.  Cupcakes at 5pm type of thing - come when you can, not all at once.  I do feel like he's handling life a little better since coming off his daily meds - he does NOT spend 5-6 waking hours a day in my bed anymore.  Only about 1 hour.  He is starting to sleep in his own bed at night better (not a ton, but we'll take what we can get).  He's still kind of a "wreck" when he's tired or frustrated (or not getting what he wants), or doesn't have his "po-po" - which his his polka dot pillow (his favorite thing in the world).  He still isn't going to Nursery at church very well and doesn't last through all 3 hours, almost ever.  But, he's not medicated, and I'm SOOO happy about that. 

We will continue to watch over the next 3 months and if he does well, we will keep off meds, and if he doesn't, we will try a 4th kind of daily.  I'm hoping for the first, of course.  I was so frustrated in March, that I started researching neurologists in the country who could figure out what was wrong with him...there just isn't an answer.  There are some good neurologists at Primary Children's Hospital in SLC, but for now, we'll hold off.  In the meantime though, I also researched the reasons children can have leg tremors - there were 49 reasons, I narrowed them down to 7 based on all of his symptoms, and went through the list with the Dr. and he addressed them all.  The only one I think may still be a small possibility is high thyroid numbers.  I insisted he get blood work done for them, and sure enough they did come back a little high - but the range for children is so huge that it appears he's in the "normal" range, but some people just can't tolerate a higher number than others.  His TSH is 3.269 (range for adults is .5 to 5 and for kids its .5 to 7.5).  I'm going to have this retested in 12 months to see if it changes.

David (Charles' big brother) came with me to his last appointment (It was Spring Break).  He was SOOOOO helpful!  Charles did SO well waiting for an hour for the Dr, and David played with him tons.  But, by the time he finally came in, he had had ENOUGH.  He just wanted his "po-po".  Unfortnately, I was with the Dr. and the pillow was in the car, which I had valet'd - we always valet at Children's (free, convenient, simple, most patients do).  But, I knew if he didn't have the pillow he would be screaming and crying the WHOLE time and the Dr. appt would be a disaster and non-productive.  So, I made a crazy decision.  I would SEND MY 9 YEAR OLD (David) to retrieve the pillow from the valet service.  I gave him the valet slip, no cell phone, told him which floor we were on to come back (Children's Hospital is HUGE), which department we were in, the Drs' name, and what to explain to the Valet.  The neurologist looked at me like I was the craziest mom in the world - how could he do that? and why would I possibly send him? and is it safe? and why can't the 2 year old live with out it for 20 minutes? and everything else you're thinking now too.  But, David can be SO incredibly responsible and smart, when he sees the need and feels like he's being given an opportunity to do something amazing.  So, I sent him off.  Charles calmed down immediately when he saw someone in progress headed off to get his "po-po" and save him from the wrath of no pillow!!! aaaahhh!! halelujuah!  The discussion with the Dr. continued.  And, about 7 minutes later, David was back with the pillow - talk about the HERO OF THE DAY.  I was SOO proud of him and Charles was SOO happy!! And the Dr. was SOOOO impressed with David - he gave him permission to come to ALL of Charles' neuro appointments, even if he was in school, that Mom would just have to take him out.  I concur.  It was wonderful to have his help.   Here are some pics of playtime while we waited for an hour.  Its our tradition to take pictures at all of Charles' appointments, hospital visits, etc. for records and this blog, and to remind me of his experiences, so I can help remind the drs of his history.  One day I hope to look back on this and not remember the hard times, only the fact that I have been given the opportunity to have LOTS of quality one on one time with Charles.  Thanks to Grandma Dianne (and Auntie Sheila too) for making that always a possibility - she gets the other 3 kids when we have to care for Charles. 

Here's hoping for a seizure-free, fun-filled summer!  If you're looking for us, we'll be at the pool, lovin' life!

What?! Poor Charles only had 2-3 weeks with no seizures! They're back!

After Christmas, we assumed he would have a few months off again until his next episode. That was not the case. It's Friday, January 18th today. Last Saturday night (the 12th), we had the missionaries over for dinner. An hour later, Charles has 8 seizures. Sunday he had like 150 tremors in his legs. We took him Skyridge to get an IV dose of Keppra (per his on-call neurologist). We thought that would eliminate all seizures as it has in the past (he's had the IV dose of Keppra once before). Alas, it did not. The experience at Skyridge was awful too. They had to poke him 3 times till they get the IV going, he was SO upset about it. In addition, we forgot to bring the Cars DVD with us and/or pre-download it to the Kindle, so he was devastated until it finally downloaded. I know, that sounds trivial, but when the poor kid only wants 1 thing while he's going through such an awful experience, we like to try to accommodate :-) Anyway, the next day, Monday morning, it all started again - including a tonic seizure, several small seizures and many many leg tremors that make him lose balance. So, we decided this time, to take him back to Children's Hospital since they have better and more experience with kids. After 2 hours there, we got no-where, other than the recommendation to add a morning dosage of his daily medicine. Before, he was on 5 MG of Clobazam, and now they changed it to 5MG at night and 2.5 in the morning. Tuesday was not much different...he had 35-40 leg tremors while we were at Sam's Club shopping. Poor kid. It scares him no matter how many times he's experienced it. It wiped him out and he had a LONG nap. Wednesday was a little better, and Thursday was even better (yesterday). We had a scheduled neurology check-up with Dr. Levisohn (his primary neurologist) at 3:15. We discussed MANY things...

1. Is it possible he doesn't have epilepsy, but something else (since his symptoms are so un-like any other patient)?

2. It is possible if we took him off all meds completely, we he be any worse off than he already is?

The Dr. agreed that maybe it's not epilepsy but rather a movement disorder. He recommend I go home and log all seizures on a calendar, including dates/times and TYPEs (tonic, myclonic, and just leg tremors) AND to try to capture them on video - that will be very difficult obviously I don't have a video camera ALWAYS on me and when they are happening, I just want to comfort the poor kid. The Dr. also said we could try weaning him from his meds.

So that night, since he had been doing well, we all went to the Gym as a family. Right after we checked them into the kids club, he went down to the ground. The care taker there said oh he's just playing...I said maybe but I better check. Sure enough, the seizures were back AGAIN. We promptly left.

NOW TODAY...So this morning his leg tremors were back again. Then, as I was taking the kids to school, he had a big 15-20 second seizure in the car in his car seat. He was shaking, bent over to the side, couldn't speak, etc. I pulled over and tried to video it but just caught the very end where he's just weak and limp and exhausted. He's napping now and has been for 2 hours...between the seizures and the meds, he's exhausted during the day, then stays up late at night. Its a vicious cycle that's also probably not good for him, but HOW DO I FIX IT??!! I was able to capture the leg tremor in the kitchen this morning and will try to upload that.

I LOVE THIS LITTLE BOY SO MUCH, he's just so cute and sweet I can't understand why this is happening and how and why the doctors don't know what to do for him. My job in life is to keep him safe and make him a priority. I want so desperately for him to at least get relief from medicine, but it's not happening, it's getting worse! Tomorrow would be a full week of seizures. The Dr. recommended a 3-day stay at the hospital which sounds atrocious, but I would do it except it would probably be the 3 days he's seizure free and they would get NO helpful information out of it. The Dr. put the orders in for it, but it can take quite of a bit of time to actually get it scheduled, etc.

He fell asleep on the way to this appointment as well.