Discussions By Condition: Blood conditions

Could it be Porphyria?

Posted In: Blood conditions 5 Replies
  • Posted By: HeatherErica3
  • March 5, 2009
  • 03:41 AM

So, I decided to put my case out here since it has been 2 1/2 years since all of my problems first begun. I strongly believe I have porphyria but the doctor says he cant do any type of treatment for it because Im too young and it would be dangerous. I feel pretty stronly that it is Porphyria but I just wanted to post this so that if anyone sees it and thinks it maybe something else I could get new ideas to research, thanks.

In July of 2006 I was getting ready for work and I randomly was hit was HORRIBLE upper right abdominal pain. I was trying to shake it off to go to work but I just couldnt. I went to the ER they admitted me over night and the following morning performed an endoscopy and said they would call if anything looked wrong. Before they could call me I was back in the ER a couple hours later because the pain was so bad. They admitted me and told me my gallbladder was working pretty slow and thought that if they took it out, everything would be good. One week later my gallbladder was removed and for approx. 3 weeks I felt like everything was going to be "normal" again, I was wrong. My first day back to work I was rushed back to the ER for a stabbing intense abdominal pain and vomitting. They ran many tests and sent me home the next day with medications and told me to start talking to a gastro doctor. I followed up and after 2 endoscopies, colonoscopy, ERCP, MRI's, Cat Scan's, XRays, several Hydascans, and tons of blood work, NOTHING. It was extremely frustrating. I was then forwarded to a pain clinic and given strong medication to cope, but still no answers. They gave me a Ciliac Plexus block which seemed to help somewhat but after a couple didnt really seem to be effective anymore. Again I was stuck with the fact that in general Im still a healthy young adult and no risks would be taken. Ive been to the ER over 30 plus times if I had to guess and its the same treatment for the most part, pain meds and nurses and doctors treating me like Im some high on. Its so hard to not want to give up and hard to actually go through all the motions. In the past 6 months I got a second opinion from my friends gastro doctor. He said that he was going to give me a Porphyria test and the results came back higher than average. He then sent me to an oncologist/hematologist. The hematologist re-ran the 24 urine test and it came back normal. I was disappointed but at the same time relieved. He still feels pretty strong that I may have it because of my symptoms but he cant do any treatment without a 100 percent diagnoses, which he said is very difficult. At this point its getting close to three years with NO HELP and Im extremely tired of it all and I honestly would do anything for this pain to go away. I have had 5 doctors write a letter on my behalf to my HMO insurence to let me go to the MAYO Clinic or U of Michigan Hospital but they refuse to help pay for the treatment. My symtoms are as follows:

*Chronic Upper Right Abdominal Pain
*Pain doesnt change after or before eating, usually later at night or early morning but is always present at lower levels that I have grown to live with
*Arm and leg weakness, numbness, tinglying, and pain in muscles
*Leg pain can be pretty unbareable at times
*Pain is always worse a few days before, during, and after my period
*Bruise easily
*Major Mood Swings
*Small somewhat darker spot on right hand, not sure if this really means anything??
*HORRIBLE sweating, especially underarms
*Heat makes me feel worse, especially when I go on vacation to warm areas (Im from Michigan)
*Body temperature always off, Im cold when everyone is hot and Im hot when everyone is cold
*Shortness of breath at times
*Chest Pain
*Nosebleeds sometimes
*Pain is worse when I don't eat or try to diet

Sorry this post is pretty long, its hard to wrap 3 years up in a post and I wanted to make sure I covered everything. I really really need some help please let me know if there is anything out there. Also, the doctor I seen was an oncologist specialist but I could tell he still didnt know much about Porphyria because its so rare. I really feel like I need something to control my anxiety and he was going to prescribe me something but then he found that anxiety meds are on the do not take list if you have Porphyria does anyone know if this is true. I have been on 5 different depression medications and none of them helped my anxiety and they seemed to have bad side effects. Any post back is appreciated, thanks again.


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