Good thing about this place? Is that lots of folks will help you get thru it all? Either diagnostically, metabolically, physically or just plain old supportively.
I've got an auto-immune neuropathy...and a couple other AI things going on too? But none, seem to be inherited.. WHEW? sort of... You simply go thru all the steps and tests and hope you find out that 'something is really wrong with you- AND it's got a NAME'. Beyond that? Sometimes having a name, doesn't mean a 'cure'. But, with the name? You can get some sort of treatments that either keep it from getting worse? or help you get by.
USE your mind to work on your body and help your nutrition and give yourself the best opportunities you can to 'get better'. And, realistically? Don't be crushed if there are set-backs. There always are...some of our making, others of unknown origins.
Thing is? To keep at diagnosis then treatment and keeping SANE! Easier said than done? But many here have been around that block a few times and more! Hugs!!!!!!! - j