Update...

[kickaha]

No, really. I must have caught him on an off day before or something. Today he was *very* communicative, friendly, and responsive. He even said that my comments on hyperpigmentation were really interesting, and he's going to start looking into it more. Turns out he has one redhead adrenal insufficiency patient already, (he ended up in ICU with major bloodwork levels going wonky - no question what he had), who, when told it was odd he didn't have hyperpigmentation said "Well, I do have more freckles on my face..." and was able to point them out. At the time the doc thought it was kind of odd, but didn't think too much more about it until I gave him the references on the possible mechanism. Now he's all excited about it. It was kinda cute. He even said "You should have been a medical doctor... you've got the knack for it." Awwwww... (Wetware, software... it's all debugging...)

Anyway, bottom line is, he said my endo all looks within normal ranges (other endo disagrees, but hey), and he's suggesting I look into a neurological factor that may be causing a systemic instability. Low BP issues and inability to sweat in hot conditions are apparently linked in many people with such a problem. So, Manhattan doc to continue looking into the possible endo-related stuff, a recommendation from this one for a neurological workup. Two avenues to investigate.

Comments

[herithoth.livejournal.com]

Has anyone considered looking into the target organ (kidney and ion channels) and not just the endocrinology. (Per your analogy - checking out for hardware issues and not just software.) It is more rare for a channel to be defective than for endocrinologic changes, but when the endo doesn't look off, one should consider alternatives. The folks at DECODE in Iceland have been identifying a number of rare gene mutations common in Northern Europeans so there is a chance that the cause of your disease may have been identified by them. Have they checked to see if you might have one of the less severe mutations in the CFTR (cystic fibrosis) gene? That mutation is certainly common in whites and mutations can be mild or severe.

[kickaha.livejournal.com]

Actually, that's a possibility the other doc is pursuing, but at an autoimmune level. Could be interesting to see the outcome.