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.