I’m at the end of the road and I don’t know what to do. I’ve looked at every lab imaginable. Genetics is negative. Abnormal and low cbc hematocrit and hemoglobin.
B12 is 1800+
I can’t take the pain anymore.
Diagnosed with rare genetic disorder called erythromelegia
However primary genetic screening was negative which means I’m chasing a secondary cause…
All labs come back normal except these and
B12<2000
ESR AND CRP elevated
BUN 32
COPROPORPHYRIN III - RATIO TO CRT 18
Vitamin d anywhere from 20-30
Negative ANA/ELSA
Negative for small fiber neuropathy
Negative brain MRI and EEG
Any suggestions of seronegative panels?
Curious is anyone has unearthed their cause?
how did you treat it?
how long did it take you to find it?
How have you approached searching for solutions?
Thank you in advance!!
I’ve been diagnosed. Never confirmed genetically, waiting on genetic results. It has ruined my life.
Can’t go outside, can’t stand, can’t do anything I enjoy anymore.
I’m curious if anyone had this onset as a result of an eating disorder or extreme weight loss?
I was 180 and had a good relationship with food until about 2-3 years ago when my heat intolerance shifted, later developing this.
Im at 157/160lbs fluctuating, wondering if anyone found weight gain to help or go into remission?
Thanks!