And wait we have. Over 5 years to be exact and while we didn’t necessarily learn anything new, we have new perspective on what we do know.

Let me back track slightly to last night. Katja’s labs, X-ray and testing were all negative. She did test positive for Rhinovirus (common cold). Add to that a long stressful flight and it triggered her over active airway asthma. Her lungs look clear and she has minimal wheezing. Her O2 is stable around 95 today. It seems we just had bad luck with her coming down with a cold (possibly) in the middle of a 6hr flight at high altitude (to avoid turbulence that we were getting pretty rough the entire flight). Low O2 on flights can be common, Katja’s just persisted post flight for some unknown reason. However, she’s her normal perky self today.

Our first stop of the day was Cardiology. Lots of lab tests, EKG and Echo. It was a long morning but Cardiology gave us a big thumbs up. Her heart function since surgery has improved significantly. As you can see in this handy graph her Dr gave us 😉

She’s almost back to where she was before surgery 🤗

We took a lunch break and got to visit some of our Truncus friends that are inpatient. Katja really enjoyed seeing them and seeing her favorite nurse from her stay in June. It’s always bittersweet returning to the Cardiac floor. Lot of emotions, especially when you have friends stuck there for weeks or months.

Last stop was Neurology. We had a very long talk about her history and the complexity that her movement disorder has become. Dr Ebrahimi is an expert in his field and he’s treated a lot of PPC kids. He truly believes Katja has Chorea. The “type” and “origin” are what we have questions about. Did Katja always have Chorea and the stress of surgery just made symptoms appear or did the surgeries cause the Chorea?

He explained the 3 categories of Chorea:

1. Congenital (hereditary)- She was born with, which means it’s related to a genetic disorder. DNA testing has been negative, however as he explained there are new markers they can now look at. Newer tests than even just a year ago.
2. Idiopathic (Primary)- She has an immune issue, vitamin deficiency or her body’s inflammation is causing it. There are lots of tests for this type of Chorea and Katja has had most of the common ones. All were negative.
3. Causation (Secondary)- She had some trigger that caused the Chorea. That can be Bypass, blocked blood vessels in her brain, infections, certain types of fever, parasites or medications. We’ve ruled out most of this with testing, leaving PPC (Post Pump or Post Bypass) as the option here, however he does want better imaging of the vessels in her brain.

He agrees that running a lot of additional tests is important because Katja’s doesn’t follow the “normal” PPC timeline. Her Chorea shows up months after surgery (not weeks) and it was dormant before her last surgery. It’s very odd that it goes away and returns like clockwork after surgery.

So what kind of Chorea does Katja have? The answer is still “we don’t know” but we are now sure that it is Chorea and we’ve started a lot of tests to answer these questions. In the coming months, she’ll have a specialized MRI, additional DNA sequencing and some very specific blood work that we should have back in about a month. All of this will either rule out other causes or finally give us an answer.

So what do we do until then? Well treatment is very dependent on cause but her Neurologist agrees that she needs some relief. So he’s discussed a few different medication options for her, as well as other treatments. He’s one of a very limited pool of Dr’s that has treated more than maybe 1 or 2 PPC kids (because it’s so rare). He’s seen the Chorea improve with medication and even go away completely. So our goal for now is to find a medication that Katja can tolerate and improves symptoms while we wait for more answers. We’ll have a virtual follow up with him in about 2-3 months and hopefully all of her testing will be back by then.

I’m glad we got a second opinion, if only for the fact that the new Neurologist is willing to find the cause of her Chorea instead of just treating her symptoms. If something else is causing this to happen, having that answer could make treatment much easier.

So we’ll do what we always do…. We will keep waiting.