We can't get a doctor who will take this seriously, so I'm turning here for help. I was referred to this forum from the General Forum.
My wife has the following symptoms/signs--
--Anhidrosis. If she ever breaks a
sweatSweat electrolytes test
Sweat test
Sweating
Sweating - absent, the most she gets is slightly clammy skin. Her skin is almost always hot to the touch. Overheats easily, tendency to heatstroke.
--Appears to be somewhat
hypothyroidHypothyroidism
Hypothyroidism - primary
Hypothyroidism - secondary
Neonatal hypothyroidism
Primary and secondary hypothyroidism: Slightly prominent eyes, low
metabolicMetabolic acidosis rate, overweight, inability to lose weight, even with diet and exercise (exercise severely limited by anhidrosis). She is overweight, but I would not call her obese or grossly overweight, in comparison with other people.
--Hirsuitism (excessive hair growth), especially on
faceFace pain, arms, and lower back.
--Very low energy level. Seems to need an inordinate amount of sleep. She could easily sleep 9-11 hours a day or more, if I would let her.
Thyroid tests always come out "
normalNormal saline flush." About her weight, some doctors have been insulting. One actually said, "All you are looking for is an excuse for being fat." NO doctor we have consulted with seems to think the anhidrosis is a problem or related, even though it has become life-threatening at times.
My wife is very
fairFair skin cancer risks-skinned, red hair, and so is naturally sun-sensitive. She has had anhidrosis as long as I have known her, since she was 14. Now 42 years old.
She was mistakenly diagnosed as epileptic as a child/young teen, and was treated with mild doses of dilantin from age 10 to 15. (She never had convulsions, just fainting spells, but was diagnosed as epileptic, anyway.)
I have found articles suggesting both neurological and endrocrinological causes for her condition. I have also found something on anhidrosis in horses that describes my wife's symptoms exactly (except for the hirsuitism, of course). The cause in horses is an inability to metabolize phenylalanine to its metabolite tyrosine. There is a treatment suggested for horses.
What may be going on here? And how do I find a physician who will take this seriously and seek a real diagnosis and treatment?
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Hello David!
All of the symtpoms you describe in your wife sound like they are of an endocrinological rather than neurological nature. There are a number of rare inherited inborn errors of (hormonal or other) metabolism that could cause such problems. I would suggest getting her to an endocrinologist who could do a more thorough workup testing additional hormones, and s/he could also order a sweat test to assess the severity of the anhidrosis. I'm sorry I cannot provide you with any more specific information, but the problem simply does not sound neurological. You may wish to contact MedHelp and see if they have an endocrinology forum. If your wife would be interested in seeing a Cleveland Clinic endocrinologist, our number is 1-800-223-2273 (ask for endocrine appointments). I can assure you that if nothing else your and her concerns will be taken seriously and investiagted appropriately as such. Good Luck.