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
*Nausea
*Migranes
*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
*Anxiety
*Anemia
*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.

Heather

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5 Replies:

  • My daughter's story is very, very long. She's 23 and had many of the symptoms you describe for over 5 years. Lots of doctors, specialists, blood work, nuclear medicine scans (hidascan), CTs, ultasound, colonoscopy, endoscopy, etc., etc. All tests normal. Accused of being crazy. Drug seeker. Attention seeker. Hypochondriac. She wasn't crazy, but this was making her feel crazy.Finally, a wonderful young doctor decided to get to the bottom of the problem no matter what. He assembled a team of specialists and asked for help. Long story short - diagnoisis: chronic appendicitis. Fairly rare. Super hard to diagnose without surgery. Even though her appendix looked normal on every test, it was bad! Very scarred from recurrent episodes that resolved themselves. Treatment: take out appendix. Results: All symptoms resolved. Find a doctor who believes you!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*Nausea*Migranes*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*Anxiety*Anemia*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. Heather
    Anonymous 42789 Replies
    • February 5, 2011
    • 06:33 PM
    • 0
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  • I really hope that whomever it was that responded to my post can get a hold of me somehow...I haven't been back on this site in a long time because there were never any posts back and I'm STILL having the same issues...Its been almost 5 years for me, as well...I'm 26 now and I have no insurance so that definitely makes it more difficult for me to get any answers, but I was hoping maybe you could tell me what the doctors name was and what state he is from so I could look into maybe seeing him once I have insurance again. I know you posted on this awhile back but I think that it could be fate that I actually noticed the email that stated someone actually posted on my post. I usually delete all my emails without really even paying attention because they are all junk mail but I noticed that the email was from wrong diagnoses and thought Id open it up. I read what you posted and it sounds exactly like what Ive been going through. Im so happy that your daughter is doing better and I really hope that maybe someday I will too! I hope you see this post to give me any information that you can because I've been so close to giving up more and more everyday its hard to live like this...As soon as I was reading the first couple words tears started to pour down my face because I knew the pain your daughter was going through and it is terrible. Thank you very much and God Bless!Heather
    Anonymous 42789 Replies Flag this Response
  • Heather, my cat Samantha got a diagnosis of squamous cell carcinoma (and a dental absess) last week and i have been researching porphyria ever since. (The vet mistook the dried, blood-like discharge for the crust of a tumor, and I didn't have my wits about me to explain that this crust is a dried discharge and changes daily, sometimes not there at all, and is not a scab, etc. I am rather certain now that it is porphyrins, and if I had a black light I'd find out myself. That part we don't have in common with cats--the discharge from the eye--because we don't have much of a Harderian gland back there, but much else is similar.)YES, absolutely your issues could be porphyria. AND the test results ARE variable, shows up one day but not the next week. I listened to a radio program yesterday that said eating regularly and carbohydrates in general are helpful for porphyria, so to be sure that the test shows a little better, skip the carbs and/or cut back on calories for a day before testing if you can take it, and maybe it will show better. Also, at least one of the 8 forms of human porphyria is intermittent... and the vet books i'm reading (again, except for the eye thing there's lots of similarity) mention seasonal variations in testing. And apparently the levels given as standard to show porphyria are unrealistic--levels far lower mean porphyria in fact.Porphyria is the result of a genetically inherited partially defective enzyme, one of 8 in the production of heme, a protein--that is, about 8 different varieties exist. OR it is created by toxic poisoning which damages those systems. The doctor (phd, not MD) on the radio said probably 20% of the population is affected by one of the 8 genetic types, but that until some chemical poisoning or trauma overstresses the body, many don't have any troubles.I would highly avoid ALL uneccessary chemicals, including perfumes etc., and mercury fillings. I would see if there are things I could do to help my liver. I would take yoga if possible, get massages if possible, exercise gently and take up meditating (or other stress reduction programs) if you can as it's basically a matter of lots of systems being compromised, and you need to find a lifestyle that keeps you as much as possible in a relaxation/healing mode rather than a stress mode. Anemia and longstanding digestive issues (pain!) are key features. The liver is compromised, and muscles tend to have problems... weak, etc. The spot on your hand could be a "liver spot", a sign that your liver isn't working as well as it needs to.While vitamin D intake is probably REALLY important, (AT LEAST 5000 units D3 a day, maybe double that) I wouldn't try to get the vitamin D from the sun until you know what form you have. The body accumulates porphyrins in the tissues, and UV exposure to them results in a chemical breakdown to a kind of but not exactly free radical situation... this is very distructive. Taking a wide variety of antioxidents may improve the general health of a lot of systems for you by counteracting those , but trust your body on anything you try that doesn't agree. I started my kitty on a number of antioxidate supplements that i already take--resverol, grape seed extract, curcumin, vitamin C,... because of the cancer possibility, but for whatever reason, the eye is doing better. Also glutathione which helps with detoxing things the liver no longer can.I think I have porphyria also, but am not investigating it at the moment for myself. If i get a uv light to check Samantha's teeth (if porphyria, cats teeth will glow pink...also urine), I will check my own urine. I understand that porphyria will mean porphyrins in the urine, and pink or red or orange glow if positive for that. I also understand that the "poor man's porphyria test" is to put urine in a glass (or clear plastic?) jar our in the sun for a couple hours. If it grows darker, you have porphria. But this is HERESAY, read from someone else's post... best would be to also put someone else's out there who clearly doesn't seem to have the problem, and compare the changes. Everything here should be taken with lots of cybersalt... just because i'm reading a lot doesn't mean I have understood any of it. But I think I share a little of the lMy cat would have gone in for immediate surgery, except that after the vet visit, she was practically on "her last legs" the next day, and is still exibiting muscle weakness. I am familiar with her inability to tolerate stresses that are weathered by other animals, and this also suggests porphyria. It's very fragile to stress. I had to build a spiral staircase (from small but heavy boxes) so she could get up to her sleeping area. Muscle weakness is par for the course. Now I know also that certain drugs and anesthesias can be terribly problematic, so she is definately not going under until I get the porphyria possibility worked out, and a safe anesthesia figured out. The last time she went under almost killed her, and she has been years coming out of the consequences of that.You mention horrible sweating. I had that too, until I think I finally (decades later) stopped sweating. I know these as symptoms of mercury toxicity (dental for me, and after having my dental mercury removed, i now sweat normally... and am far healthier). But the failure to detox metals and other toxins can arise because of the porphyrin issues... even tho I've been reading about all this, I've lost track of how that works at the moment. I am not a registered user of this site, and figure I would lose this page if I tried. I don't think they will notify me if you respond, nor am I likely to find this page again. Go ahead and try to respond here if you want, but you might also more reliably get back to me by posting a comment at my rather unused blog, life-with-sam.livejournal.com , (life-with-sam dot livejournal dot com) with your email or phone number. The comment will NOT post at the blog, but will be sent to my email for my approval, and I'll get it that way, (and not let it post with your contact information). Maybe I will write about Sam's curreent health issues there at the blog, as a way of preparing to try again to communicate with the vet.I haven't done this yet, but it's been on my list for a week. I would do research on porphria on the Life Extension Foundation website... they are a phenomenal medical research organization that speciallizes in NATURAL helps. That's where I learned that curcumin, resverol, and grape seed not only help prevent cancer but may be useful in treatment. If you find one of their magizine articles, it will end with "if you have questions about this article or anything in it, you may call one of our health advisors..." DO. it is free and I was AMAZED at how helped the suggestion was to my major question the first time I called. I am really poor, or would have joined... I really miss the magizine they sent out for two months after I called. If I werent disorganized, LEF would have been a big part of my past week. But you do have to stop them to write things down. They sell supplements there (too expensive--buy elsewhere) so I am sure most of their callers just say, yes, send me that what else. I only asked for specific supplements that would help me, Ididn't ask for reference materials... that might be helpful. They also do LAB TESTING that you can order yourself. and maybe doctor referalls. If you write me tell me what state you are in. There is a testing company like LEF but I think called neuroscience in Wisconsin. I called them and got a physician referral for someone in MN from them... in this case a naturopath, for throid, b12, d and a host of other tests.OH! both my kitty and I do much better taking methylB12. NOT regular B12. methylB12, and as tablets you suck under your tongue. (Well, kitty eats hers but it still helps.) 40% of the population has a methylation error, and the two together may be especially challenging, or perhaps higher B12 levels eases some of the heme issues. Best of luck. i've had horrible health all my life, and really appreciate the good days. and even when my health is 1000 times better than before the dental filling removals, its still not that good. But sometimes, even for weeks, I get most of the pieces in the right place, such as exercise, and things are almost enjoyable. More hugs and some good friends would make a huge difference. Best of luck and the right helpers in your life to you--JoanneI really hope that whomever it was that responded to my post can get a hold of me somehow...I haven't been back on this site in a long time because there were never any posts back and I'm STILL having the same issues...Its been almost 5 years for me, as well...I'm 26 now and I have no insurance so that definitely makes it more difficult for me to get any answers, but I was hoping maybe you could tell me what the doctors name was and what state he is from so I could look into maybe seeing him once I have insurance again. I know you posted on this awhile back but I think that it could be fate that I actually noticed the email that stated someone actually posted on my post. I usually delete all my emails without really even paying attention because they are all junk mail but I noticed that the email was from wrong diagnoses and thought Id open it up. I read what you posted and it sounds exactly like what Ive been going through. Im so happy that your daughter is doing better and I really hope that maybe someday I will too! I hope you see this post to give me any information that you can because I've been so close to giving up more and more everyday its hard to live like this...As soon as I was reading the first couple words tears started to pour down my face because I knew the pain your daughter was going through and it is terrible. Thank you very much and God Bless!Heather
    Anonymous 42789 Replies Flag this Response
  • I was feeling particularly short of breath one day and assumed I had caught a chest cold so I went to a clinic. The doctor said my lungs were clear, but called it a respiratory viral infection. He gave me some sort of steroid pack with a tapered dose to take over a weeks time. He said it would "boost my system." After only two days of taking it, I felt worse. My energy was zapped and my whole body felt like I had ran a marathon. I went back to the clinic and told the doctor the medicine made me feel worse. The doctors exact words were, "That's impossible. Steroids give you energy. It's just the virus, keep taking the medicine." I'll never forget those words because after this ordeal was over, I lost all faith in doctors. I went home and did what the doctor said to do. A couple days later my muscles were even weaker and I was having a strange tingling sensation in them. I recognized the tingling as the sensation doctors always blamed on my heart, but I remember thinking, "my muscles were never this weak with it." When I used the bathroom that day, my urine was tea colored and I remember make a note of needing more water in my diet. By the sixth day of taking the medicine, I woke up in the morning and literally could not get out of bed. I literally could not move my legs. It was the scariest feeling of my life. Ironically, my main concern was missing school cause I had final exams that day. Then after trying for a good ten minutes to move my legs, it sunk in that I really could not move them, and then I started to panic.I pushed myself up in bed with my arms, sat up, then lifted my legs with my hands and sat them on the floor. As stupid as this sounds, I thought if I stood on them they would work, but I just fell to the floor. My fiance was already at work, so I had to crawl to the phone to get someone to take me to the clinic. By that time, I did not really trust hospitals, because every time someone had ever driven me to one in the past I was always given a clean bill of health with a really really large bill. The thought in my mind was "they won't find anything wrong with me." My friend who picked me up drove me to the clinic she uses, which was different from the one I had been using. There was a doctor there who just happened to be studying porphyria for his continued education at the time, so when he saw me he knew exactly what was wrong. He told me to stop taking all my meds except for my heart medicine, and then he sent me to the hospital with a recommendation for how to treat me and by the end of the day I was at home feeling better. When I followed up with him, he explained I should avoid medications, sunlight, stress (good luck), and eat properly. He said I had my attack because of the birth control pill and the steroids, which I should never take. Unfortunately, he was an out of town doctor from up north who was only down here volunteering (this was after hurricane Katrina), so I had to educate myself the rest of the way.If you do have porphyria, and a lot of your symptoms sound like mine, then you should avoid most medications. Even a lot of antibiotics make porphyria flare up. Never take narcotics or any medicine you could abuse or get high from (all those aggravate porhyria), and avoid alcohol. I always keep a list of unsafe meds for porphyria with me. I would copy and paste it but for some reason this site won't let me do that. You can get a pretty good list of unsafe drugs by googling the European Porphyria Network.I've dealt with the diagnosis of porphyria for seven years now, and I have come to realize most doctors have never heard of it before. Usually when I tell a doctor I have it, they then need me to explain what it is, and most doctors who have heard of it are unaware that medications can trigger an attack, or at least this has been my experience. When I was first diagnosed any time I had a cold and went to the doctor, I would tell them I had porphyria. They would prescribe meds for my cold and I would go home, and then I would have an attack from the medicine. I didn't know the drugs were unsafe and I assumed the doctor would not prescribe me an unsafe med. My advice is to do research, find out what you cannot have with porphyria, and avoid it yourself without your doctor telling you to. I have been able to manage my porphyria relatively well by simply avoiding things and wearing sunblock if I must be outside for long periods of time. When I feel an attack coming on (unusual fatigue, gut pain, etc), I eat things that are really sweet and this seems to help the attack from becoming severe. I avoid dieting and other fad diets.For a final warning, you may want to avoid taking an iron pill. A multivitamin is okay. I take this without a problem, but a doctor put me on an iron pill once and it made my porphyria flare up really bad. I noticed you said you have anemia which is why I mention this. Good luck and I hope you get better soon.
    snowkitty 3 Replies Flag this Response
  • I was feeling particularly short of breath one day and assumed I had caught a chest cold so I went to a clinic. The doctor said my lungs were clear, but called it a respiratory viral infection. He gave me some sort of steroid pack with a tapered dose to take over a weeks time. He said it would "boost my system." After only two days of taking it, I felt worse. My energy was zapped and my whole body felt like I had ran a marathon. I went back to the clinic and told the doctor the medicine made me feel worse. The doctors exact words were, "That's impossible. Steroids give you energy. It's just the virus, keep taking the medicine." I'll never forget those words because after this ordeal was over, I lost all faith in doctors. I went home and did what the doctor said to do. A couple days later my muscles were even weaker and I was having a strange tingling sensation in them. I recognized the tingling as the sensation doctors always blamed on my heart, but I remember thinking, "my muscles were never this weak with it." When I used the bathroom that day, my urine was tea colored and I remember make a note of needing more water in my diet. By the sixth day of taking the medicine, I woke up in the morning and literally could not get out of bed. I literally could not move my legs. It was the scariest feeling of my life. Ironically, my main concern was missing school cause I had final exams that day. Then after trying for a good ten minutes to move my legs, it sunk in that I really could not move them, and then I started to panic.I pushed myself up in bed with my arms, sat up, then lifted my legs with my hands and sat them on the floor. As stupid as this sounds, I thought if I stood on them they would work, but I just fell to the floor. My fiance was already at work, so I had to crawl to the phone to get someone to take me to the clinic. By that time, I did not really trust hospitals, because every time someone had ever driven me to one in the past I was always given a clean bill of health with a really really large bill. The thought in my mind was "they won't find anything wrong with me." My friend who picked me up drove me to the clinic she uses, which was different from the one I had been using. There was a doctor there who just happened to be studying porphyria for his continued education at the time, so when he saw me he knew exactly what was wrong. He told me to stop taking all my meds except for my heart medicine, and then he sent me to the hospital with a recommendation for how to treat me and by the end of the day I was at home feeling better. When I followed up with him, he explained I should avoid medications, sunlight, stress (good luck), and eat properly. He said I had my attack because of the birth control pill and the steroids, which I should never take. Unfortunately, he was an out of town doctor from up north who was only down here volunteering (this was after hurricane Katrina), so I had to educate myself the rest of the way.If you do have porphyria, and a lot of your symptoms sound like mine, then you should avoid most medications. Even a lot of antibiotics make porphyria flare up. Never take narcotics or any medicine you could abuse or get high from (all those aggravate porhyria), and avoid alcohol. I always keep a list of unsafe meds for porphyria with me. I would copy and paste it but for some reason this site won't let me do that. You can get a pretty good list of unsafe drugs by googling the European Porphyria Network.I've dealt with the diagnosis of porphyria for seven years now, and I have come to realize most doctors have never heard of it before. Usually when I tell a doctor I have it, they then need me to explain what it is, and most doctors who have heard of it are unaware that medications can trigger an attack, or at least this has been my experience. When I was first diagnosed any time I had a cold and went to the doctor, I would tell them I had porphyria. They would prescribe meds for my cold and I would go home, and then I would have an attack from the medicine. I didn't know the drugs were unsafe and I assumed the doctor would not prescribe me an unsafe med. My advice is to do research, find out what you cannot have with porphyria, and avoid it yourself without your doctor telling you to. I have been able to manage my porphyria relatively well by simply avoiding things and wearing sunblock if I must be outside for long periods of time. When I feel an attack coming on (unusual fatigue, gut pain, etc), I eat things that are really sweet and this seems to help the attack from becoming severe. I avoid dieting and other fad diets.For a final warning, you may want to avoid taking an iron pill. A multivitamin is okay. I take this without a problem, but a doctor put me on an iron pill once and it made my porphyria flare up really bad. I noticed you said you have anemia which is why I mention this. Good luck and I hope you get better soon.
    snowkitty 3 Replies Flag this Response
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