I’ve been trying for a few weeks now to find the words to write this. Let me first start by saying that Katja’s doing well.

We’ve gone up on her dopamine to a point where she was starting to get side effects. Specifically weight loss, nausea and occasional vomiting. So we decided to pause on the increasing and allow her to adjust.

Her Neuro team decided to add some appetite stimulant meds as well. She’s gained 2lbs on them so far. They’ve also decided to start the switch from short acting dopamine to extended release. We’ll be starting that this week. It’s a slow gradual switch as we don’t want to exacerbate her side effects.

Her permanent wheelchair also arrived and with it came lots more freedom and a lot less exhaustion getting around. Katja loves to pop wheelies and zip around like a speed racer. She’s beyond happy with it.

As it currently stands she’s had about a 70% improvement in symptoms. While that seems high, we are still a long way from where she was or should be.

This month we had a long talk with both her Boston and Seattle teams. It was rough and a lot of information was discussed. I’m going to try my best to explain everything.

Katja’s DNA tests came back. From everything we’ve checked so far (there is additional testing we are still waiting on) she only has 1 variant. SCN8A. We are aware which parent she’s inherited it from but don’t plan to share that information. As it stands right now Katja and that parent are the only people in the world with their specific variant that anyone knows of. It’s called “de Novo” : A term used to describe a change in the DNA sequence of a gene that is seen for the first time in a person. Without additional family testing we don’t know if that parent is patient Zero or if it’s deeper in the family. We plan to work closely with our genetic teams and family to get more answers.

So what is SCN8A? It’s a sodium channel receptor. This variant is extremely rare, so rare only 223 people Globally have it. Katja now joins the ranks of kids dealing with 8A. Our best guess is she has the “Loss of Function” variant (doesn’t retain enough sodium). She does not have epilepsy, so LOF makes the most sense. 

Here is a link that discusses it further:

About SCN8A

We are still trying to figure out what all this means related to her Chorea. Seattle Children’s genetic team has never seen this variant and have no idea how it is affecting her. So I don’t have any answers there and we may not for years until more research is done.

But what we do know is that Katja doesn’t have “Post Pump Chorea”. She has “Uncommon, Undefined Chorea”. We’ve discussed many scenarios with her team. Like the possibility that surgery causes an immune response that triggers the Chorea or that it’s always there but typically at a milder level seeming more like ADHD than Chorea.

We don’t have answers yet. Honestly we may never have answers but at least her team is exploring other diagnoses than PPC. We are also finding new ways to treat her instead of the standard that doesn’t work. Boston has brought to the table the possibility of doing deep brain stimulation where they would implant an electrode in her brain that would override the signals causing her chorea. While this would be a more extreme intervention and something that we’re not currently planning, it could possibly be an option for a long-term solution that doesn’t involve medication.

Her team isn’t dismissing 8A as the cause, there just isn’t enough research to say it’s 100% the cause of her issues. So we keep seeking answers, treatment and specialists.

However it seems the deeper we go, the more rare and special Katja truly is 🩷