I know I’ve been a bit silent the last 2 weeks. I wish this was due to a much needed recovery from being impatient but unfortunately not. It’s been a super busy few weeks for us. Lots of follow up Dr appts, therapy consults, permanent wheelchair sizing and trying to navigate life with our new reality.

You honestly don’t realize how un-ADA friendly the world is until you experience it yourself. Elevators that snap shut faster than you can get a wheelchair through them, auto open doors that close to fast, sinks that are to high up, handicap spots that are to tight to fit a wheelchair around… It’s been eye opening to say the least.

In the middle of all this, the strangest thing happened. I did that thing where I think out loud and the idea totally changes things for Katja. It’s how we ended up with her Ozaki, me just thinking out loud about an alternative to a mechanical valve to her team.

And so about 2 weeks ago I said “None of these dopamine inhibitors are working. We have tried every single one but the newest. (Still waiting on approval btw) What if her Chorea is dopamine responsive? What if we need to INCREASE her dopamine? “

Her Neurologist looked extremely skeptical but decided to appease me because we had nothing better to give her while waiting on the new medication prior authorization.

So Katja was given carbidopa-levodopa. That’s right a medication for Parkinson’s disease. We had zero hope going in on this, it was just a theory I wanted to prove.

Well we started at 1/2 tab once a day, than twice a day, than a whole in AM and half in PM. No changes in her Chorea but no side effects either. This was odd because theoretically giving her more dopamine should make her Chorea worse. So we went to a full tab twice a day. Within 24hrs Katja’s symptoms had a 30% improvement. She can walk small distance again, she can hold her posture better, her overall body movement decreased.

Today we saw Neurology. They are as absolutely confused as we are right now. Why is Katja’s Chorea responding to more dopamine and not less? How is she improving on a medication for Parkinson’s when she has Post Pump Chorea? What are we missing here?

Stranger things have happened but this one really took us by surprise. At this point we are just gonna roll with it, increasing it to 3 times a day and see what happens 🤷‍♀️

We are hoping to get a rush on some very specific genetic testing that may explain why she has dopamine responsive Chroea (Yeah try Googling that it’s like unheard of). If it comes back positive we’ll finally have an answer but one that may not be something we want to hear and will definitely mean a lot of testing for her little Brother as well.

As always, I’ll keep everyone updated as I can.