Methylenetetrahydrofolate Reductase Deficiency
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,…