I finally received my Whole Genome test results (https://sequencing.com/?rfsn=4541759.8a2bfe). It’s a wilderness of variants. I’m putting my best doctors in the driver’s seat to help interpret the results at length. However, there is one major likely candidate that “could” explain all of “my” CSS symptoms in one if severe enough,…

I recently underwent some genetic testing for certain types of rare neuropathies. One of the mutations was in my RYR1 gene, which suggested that I may have some symptoms of Central Core Disease. Looking at some of the known symptoms I realized that I did indeed have some of those…