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.