August 11th Update

I'm not sure if it is a good thing that my doctor called me personally to let me know that I might have a rare disease called Porphyria. It is a group of disorders that result in a buildup of chemicals called porphyrins in your body. Although porphyrins are normal body chemicals, it's not normal for them to build up. The cause is usually an inherited mutation. She's never had a patient who has it in her 25 years of practicing medicine but all of my symptoms fit. The tests she ran a couple weeks ago could have showed it but only one of the tests came back abnormal but it was borderline. My doctor is not surprised at this fact because it normally doesn't show up on test results unless the tests are timed exactly right. She is planning on talking with my GI doctor about it since she has treated me for a while and set me up to see a hematologist since it's in their area of area of medicine. Dr. Mitchell, my primary care doctor is planning on talking to them before I see him/her about just trying the treatment on me because for one it can only help and that way we would know if it is this one way or the other. The treatments include mainly a series of IV infusions but nothing is going to be done besides treating my symptoms until I meet with the hematologist though. These two websites explain this well:

http://neuromuscular.wustl.edu/nother/porph.htm

http://www.mayoclinic.com/health/porphyria/DS00955