New Bling

I've been receiving emails from readers (which I love and adore so please keep them coming!) and you have been asking what's going on with me today, if I have my diagnosis... and all that jazz.

No. I have no "official" diagnosis right now. As I previously posted, Dr. Premier knows and recognizes that I have this disease but cannot give me treatments until the proof is in writing. However, he did tell me on my last visit (about a month ago now) to order a Medical Alert bracelet and to start carrying a Med Alert card with me. So that's what I've done.

The front of my bracelet has my first name on it in large letters next to the classic red Medical Alert symbol.

The back has "PORPHYRIA" in all caps. If I knew what kind of porphyria I have that could go here, but I don't... and the types of porphyria are quite long, so maybe it wouldn't even fit! Below that, it has my D.O.B. followed by "See Wallet Card" - which is full of additional info. The last line has I.C.E. (in case of emergency) and my husbands phone number.

I have been wearing this since it came in the mail. I ordered it here and have been very pleased with the quality. I feel like I do have this disease... and I'm working on getting stronger, feeling healthier, and getting that fucking diagnosis so I can receive treatment.

Sunlight Urine Test 2

With no diagnosis, I wanted to prove to Dr. Premier - and to myself because at this point I'm discouraged, depressed, and starting to think I might be making all this up - so I did another Sunlight Urine Test. This time, I left the urine out in the sun for 48 hours and documented with photos every couple of hours. At the time, I didn't realize what a drastic change it was, but looking at the step by step photos, I'm now taking back my moments when I second guessed myself. I do have Porphyria, and here is my proof.

Unfortunately, photos don't get an official diagnosis. I did bring these to Dr. Premier and once again made him answer what else in medical history could make this happen to a person's urine. And again his only answer was porphyria. I feel like he wants to give me a diagnosis...he's not one of the mean doctors and I truly feel like he's on my side. However, his hands are tied in a way, because the medical community needs documented proof. The geneticist in Rochester, MN (who has been consulting Dr. Premier for a few months now on my case) says that I must have elevated porphyrin levels of 10 times or greater in order to receive any diagnosis... and without that I cannot receive treatments because they are too dangerous.

Typical treatments include a 10% glucose infusion via IV and/or heme infusion. I thought that glucose could be administered without a diagnosis, but with strong suspicion, but Dr. Premier looked into it and explained that the infusion is not the typical glucose IV that any patient would receive in the ER... in fact, it can be quite risky to a healthy person.

The only thing I can do is wait for an attack and perform another 24 hour urine... and pray that I'm sick enough (so ridiculous) to get the official diagnosis. After all, between attacks my levels are 6 times higher than normal... so hopefully I can reach that magic number - 10.

Close, But No Cigar

I received the results from my porph screen, read about it here. This is what it says:

Tests ordered: Porphyrins, Qn, Random U

Uroporphyrins (UP) 23 H

normal range: 0 - 20 ug/L

Heptacarboxyl (7-CP) 11 H

normal range: 0 - 2 ug/L

Hexacarboxyl (6-CP) <1

normal range: 0 - 1 ug/L

Pentacarboxyl (5-CP) 2

normal range: 0 - 2 ug/L

Coproporphyrin (CP) I 26 H

normal range: 0 - 15 ug/L

Copropphorphyrin (CP) III 7

normal range: 0 - 49 ug/L

When I took the phone call from Dr. Premier, I was so excited to hear that my levels came back high. Then he explained to me that they are not high enough to get a diagnosis. This I don't understand... and still don't. After all, my heptacarboxyl level is more than 5 times over normal limits. Does that not mean anything? Apparently not enough.

Dr. Premier explained that in order to receive a porphyria diagnosis, my levels need to be greater than 10 times the normal limits. So we were close, but no cigar. How do I get my levels that high? I have to be in an attack... that's right, these levels represent me NOT in an attack. I was disappointed, but I also felt validated. For almost 2 years I have been telling doctors, nurses, family, friends, even myself, that something is wrong. That I don't feel like myself. Now I know that I was right, and that feels good.

Side note: I still don't understand why 5 times the normal limits doesn't get a person diagnosed. I asked my doctor these questions about porphyria.

me: "What else causes elevated porphyrin levels?"

Dr: "Nothing."

me: "What else causes urine to turn purple?"

Dr: "Nothing else I can find."

me: "So if there's nothing else that causes these things, why can't I get a diagnosis?"

Dr: "Well...(long pause)...the geneticist (from Mayo who has been consulting) has told me that normal, healthy people can have slightly (key word) elevated prophyrin levels. So that's why the porphyria diagnosis must be 10 times the levels to distinguish between normal and porphyria."

me: "Can a normal, healthy person have elevated levels 5 times?"

Dr: "I don't think so."

So what I took away from that conversation is that there is no research about porphyria. I can accept that some normal people can have elevated levels. I can accept that you want to make sure that there is a distinguishing point between normal and porphyria. But who came up with 10 times? It seems like a large gap. I've read on other's blogs and forums that when you go into attacks, your levels skyrocket... but why should we have to go through that in order to be diagnosed and get help? I'm sick now, with levels 5 times the normal limits, but can't get treatments. This is wrong, and I told Dr. Premier that...and he agreed.

Porphyria Chart

I found this chart, featuring the types of porphyria, the associated enzyme, and location of synthesis, during my research. This chart in particular is useful because on the left hand side it shows where the porphyrins are excreted - stool or urine. Please pass on to anyone you know who has, or thinks they have, porphyria.

{click image to enlarge}

No, It Came Out Looking Like That

As I continued my quest to receive a diagnosis, I became a little too interested in my pee color. I started to research more about porphyria and triggers for attacks and began to live like a porph. By doing this, my overall health started to improve. Now I don't want to give the wrong impression, I was still struggling, but the daily dry-heaving, extreme headaches, diarrhea, and abdominal pain slowly got better and I was able to eventually stop taking muscle relaxers and hydrocodone every day.

With this overall change, I started to second-guess my symptoms. I attribute this to the "forgetting pain" phenomenon associated with child birth. I think this also must occur with patients suffering with chronic diseases that include cycles of pain. When the pain is over, and you begin to feel better, your mind starts to think that maybe the pain you were in wasn't so bad after all....until the pain monster rears it's ugly head once again and you curse yourself for ever thinking this situation was bearable.

So to see if I was really sick... and maybe to confirm my first sunlight test, as if the positive results could have been a strange fluke....I decided to do another. This one, however, came out of me looking like it was already out in the sun. So I took my jar of pee, put my name on it, and took it to Dr. Premier, figuring he would like to see it in person.

{March 29, 2010}

Dr. Premier didn't know what to think about this...I don't think most people would. He took the jar and asked how long it had been exposed to light (only 30 minutes or so by the time I drove it to his office) and he said that he would try and run a general porph screen on it and see what comes up. So I left, feeling like I was getting somewhere, and waited to hopefully hear that my levels were elevated and I would become an official porph.

I'll Prove You Wrong... All of You

After such a horrible experience at Mayo, where the "leading experts" are known for cracking the difficult cases, I became obsessed to prove I do NOT need a psychiatric evaluation. I dove into forums, blogs, case studies, medical websites... anything I could find that mentioned porphyria. Needless to say, there's not much out there. In Dr. Premier's own words, "This disease is known as an 'orphan disease'. Pharmaceutical companies don't put money into research because not enough people have this condition to make money off of." Although I understand this point from a business perspective, I think it's horrible.

What I did find is purple pee. This is mentioned in almost every document, blog, and forum as a tell-tale symptom. Although I knew my penny-colored urine was not comparable to the few pictures I did find, I decided to try out the sunlight test. For those unfamiliar, this simple test involves peeing into a clear container, setting it outside in the sun, and watching to see if the urine changes from yellow to purple. So I did the test, left the house for the day because I knew I would be fighting not to check on the color every 5 minutes, and hoped that I wasn't truly crazy. These are my results.

Needless to say, I was relieved. I emailed my doctor these two pictures, complete with an explanation of this at home test. He responded, "Looks like a positive test to me. Hopefully a 24 hour test will confirm."

At the time, I thought that a 24 hour collection would surely give me a diagnosis. After everything else I've been tested for, at least we know what we are looking for... but I found out it's not that easy.

Porphyria Article

This is an article I found while beginning my research on Porphyria. I printed it, underlined in red the parts that related to my story and symptoms, and have even brought it to numerous doctors to help inform them on this condition. The article is written about AIP - Acute Intermittent Porphyria. I do not have this type, but it is very similar to what I believe I have. AIP does not include light sensitivity, which I do experience, but only has acute attacks, also something I have.

"Insomnia, leg cramps, muscle spasms, constipation, broken blood vessels on your cheeks, tiny pin-sized red dots on the trunk of your body, abdominal pain. Does this sound familiar? [yes] These are common symptoms of AIP: Acute Intermittent Porphyria. My mother describes it as the intense pain you feel when you slam your finger in the door. Only it's not just your finger, it's your whole body. Can anyone relate?"

With just this first paragraph, I was yelling out loud "Yes, this is me! I can relate!" So I continue...

"Porphyria is difficult to diagnose. You can't just call the doctor and complain of one symptom. Not only does your stomach hurt, you probably have a headache and you may even be experiencing mental confusion. This sends most physicians into a tailspin. They will do a sonogram. Then a CAT scan, maybe even a spiral scan. If you still have your appendix, you won't for long. Just ask someone with Porphyria and they will most likely tell you that was the first thing the docs took!

Muscle weakness may occur during a severe attack due to the fact that all symptoms of AIP appear to result from effects on peripheral nerves, the nerves in the abdomen, or the central nervous system. Leg cramps, muscle spasms, and stomach cramps usually originate from this area. All the spasms may bring on another little symptom: petechia. Petechia are tiny strawberry red blood dots. These are most common on the trunk of the body and usually caused by all the stress from the spasms in the abdominal area."

Hmmm.... petechia rash on cheeks and trunk of the body. That sounds familiar. See my trunk pictures in past posts.

"What's so insidious about AIP [and all other acute Porphyrias] is that it is truly intermittent. You may be fine for months, then WHAM, a severe attack will hit you. Or you may slowly slide into the symptoms until one day you just can't get out of bed. Everyone differs. Since more women than men inherit AIP it is common for other women family members who don't even know about AIP share these symptoms. A lot of women simply put it off as PMS."

The article continues to talk about what porphyria is, the different types, what can cause an acute attack, skin sensitivity, testing, and passing the porphyria gene onto children. If you would like a copy, please email me and I'll be happy to send it to you.