#chromosome 3q21

[chronically-bailey]

Hey everyone! Long time no post!

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,

Love y'all! ❤️

[1librarynet]

A genome-wide survey of segmental duplications that mediate common human genetic variation of chromosomal architecture

Moreover, we con- firmed the high degree of sequence similarity between these PSDs across the different chromosomes and identified two other loci on chromosomes 3q21 and 11q13, source https://1library.net/document/qvp98r0q-genome-segmental-duplications-mediate-genetic-variation-chromosomal-architecture.html