So we did find the gene causing my symptoms, its the ADCY5 gene on the 3q21 chromosome. It causes dyskinesia, dystonia, focal onset aware seizures, facial myokymia, and myoclonus, along with other symptoms that may or may not be associated (more research is needed). Essentially, the ADCY5 gene is responsible for turning ATP (adenosine triphosphate) the energy carrying cells to improperly convert it into CAMP (Cyclic adenosine monophosphate) the signals sent to your cells, causing my cells to receive those signals when not needed or to not receive the signals when needed.

It's both good news and bad news,

Good news is we finally know what it is and why my symptoms have been happening.

Bad news is that it's extremely rare, less than 400 people in the world have been accurately diagnosed with this disorder. So there is little research, no prognosis for the future and how that looks, and no set treatment plans. It's basically "fuck around and find out" for all of it.

I don't know if I'll be able to drive, if my symptoms will improve, stay the same, or get worse. It sucks, but it's all they've got.

They (my Dr's) are sending my to see a geneticist at the University of Washington in Seattle (luckily only 45 minutes to an hour away from my house) to see a doctor that specializes in this disorder to see if she can help with anything.

I'll keep you all updated,

They need to test my parents to see if they have it too because that will determine whether or not that's what's causing my symptoms, but they've Isolated it to the DYT-ADCY5 gene!

They also found 5 other genetic changes weighing the dystonia panel, but those are all benign!

I'm still waiting on my dystonia panel results, but it should come any day now. I'm also getting forearm crutches so I can still maintain as much mobility as possible for a long as possible while still getting the necessary support!

Aside from that, I have a 30 day cardiac monitor to address my constantly high heart rate (usually between 100-150). And I will be getting a gastric emptying scan to see if my ibs-c was misdiagnosed because it fits better with gastroparesis.

I was put on levodopa/carbidopa for my dystonia and it didn't work meaning we were able to rule out a dopamine responsive causes.

I'm currently on Baclofen which is a muscle relaxant mostly for spasticity caused by MS, spinal cord injuries, and occasionally parkinson's. This is working really well!!

Right now the concensus is to continue to treat the symptoms while we wait for my genetic testing on January 7th.

We're thinking it's Early Onset Parkinson's Disease because all the symptoms match to a T, BUT it affects only 6,000-12,000 people in the entire united states under the age of 50. With that, its incredibly unlikely that I have it, but right now it's the only thing that makes sense.