June 26, 2014

Joseph's Condition ~ Choreoathetosis

Choreoathetosis is the occurrence of involuntary movements in a combination of chorea (irregular migrating contractions) and athetosis (twisting and writhing). ~Wikipedia

Ever since school finished up for the year, I noticed a change in Joseph that slowly, but surely was growing progressively worse.

At first I thought he had simply developed several new ticks, which kids often do at his age. Or perhaps it was due to the change in daily routine. He struggles with change.

He's always been a bit antsy and fidgety, but I started noticing that the fidgeting was getting worse and he was constantly twitching and jerking. This soon became most noticeable in his face and mouth. Recently it started affecting his speech, which was becoming slurred and hard to understand. Over the last few days he hasn't talked much at all.

Running, bike riding, and even walking seemed to be more challenging for him and soon I found that he spent much of the day simply laying on the floor.

Monday afternoon, I called my pediatrician's office to set up an appointment for Joseph. I was worried at how long it would take to get an appointment, but they told me my doctor had just had a cancellation for the next day.

Tuesday we had Jackson's appointments in Salt Lake and we took Joseph with us. It worked out that as soon as we got back into town, we drove straight over to his appointment, barely making it on time.

After that visit, our pediatrician guessed at what it was (and he was correct), but wanted to defer to the pediatric neurologist.

My pediatrician called right away and talked to the neurologist. He said that after a referral is made, it takes 4-6 weeks to get an appointment, but the neurologist would stay late on Friday to see Joseph.

I called the office to confirm the appointment and was told that they could actually get Joseph in the next day, on Wednesday.

Wednesday afternoon we arrived for our appointment. An hour later we met with the neurologist. After many questions and a thorough exam, he told us that Joseph has Choreoathetosis.

He doctor didn't seem overly concerned and I was just happy that it didn't appear to be a brain tumor or something.

I tend to think worst case scenario.

So now we know what it is, but we still don't know for sure what is causing it.

The doctor asked if Joseph had had strep recently. I told him no. In fact, the only time Joseph has been sick the whole winter was a few months ago when he caught a minor cold/cough.

He said that based on Joseph's symptoms, or lack thereof, he's feels almost sure that Joseph probably had step, but didn't exhibit any strep symptoms (apparently strep can be naughty like that) and sometimes when strep goes untreated with antibiotics, the antibodies the body creates to fight the strep will also continue on to attack other parts of the body, such as liver, kidneys, etc.

In Joseph's case, they are attacking his entire nervous system.

Symptoms for this take a couple months to start showing, so I suppose it seems the most likely scenario.

We won't know for sure until all of Joseph's blood work comes back, which takes about a week, but they think that's what it is.

If it's not then they will do more blood tests in search of another cause, such as a thyroid problem, and only if all of that comes back negative would they do an MRI.

But he's pretty sure it's Sydenham's Chorea (strep based).

One big concern if it is the strep, that untreated it can cause arrhythmic fever and attack his heart valves. So if the blood work does come back positive, then we will need to do a echocardiogram to make sure his heart is okay.

As of right now, they started him on anti-seizure medication that will help control the twitching and writhing. He'll be on that for three to six months.

Poor kid, I can't imagine how frustrating that must be to have a hard time doing something as simple as talking. But he has been amazing through it all, he really has.

No complaining or whining, he didn't flinch when they drew his blood this morning. He even did pretty well at his baseball game last night, even though you could tell he was struggling a bit.

So I guess right now we just have to wait for the blood results then move forward from there.

We had to take a video of him doing certain things so in a month we can see how he is improving.

He can't hold out his arms and hands without his fingers reflexively curling as though he were playing a piano, he can't even hold out his tongue without it involuntarily pulling in and out.

Still, I am relieved that we know what it is and can at least start treating it.

Thank you yet again for those of you who prayed for us.

The way everything worked out so quickly and all the appointments lined up so amazingly, I know the Lord was looking out for Joseph.

5 super cool people speak:

Megan Jones said...

I am so happy that things worked out so well to get Joseph in to see the doctors so quickly! And add to it that they were able to make a preliminary diagnosis that didn't include a brain tumor (I think worst case scenario too). I'm still praying for your little-big guy as well as the rest of your family. I'll have some chocolate (Hershey kisses) in your honor. ♡

Alise Durfee said...

Whew. I'm so glad you took him in and they are finding out whats going on and if it is what they think it is that its treatable! That's great news. I'm glad you shared. At scout camp on Monday I was really worried about him since he has never been like that before. :( he had a hard time with a lot of the activities but he was a great sport and didn't give up completely until he did it. The archery was pretty hard holding the bow. But once he got it he hit the target 3 times in a row! It was really hard for me to see him struggle like he did at camp. Hopefully he will be back to himself in no time!

Heidi D said...

So glad you were able to get him seen quickly & they were able to see a cause straight away. I am another that thinks worst case scenario so would have been so relieved with a prompt answer. I will keep your family in my prayers & hope to read that he is feeling more like his old self in the not too distant future

Sue said...

Sorry you and Joseph have to go through this, but life always does seem to throw a few curves, doesn't it? At least it sounds like they feel it will resolve eventually. I'm sure you will be glad to get that heart test out of the way...

Of course, you guys will be in my prayers. You know how I feel about your cute fam.


Valerie said...

Oh, my goodness! You are gonna be able to write a medical encyclopedia yourself with everything you learn from your children's conditions. Sure hope it's resolved quickly. Poor guy!

Related Posts Plugin for WordPress, Blogger...