This scene from ABC's Grey's Anatomy, "Time Warp" episode, saved my life.
My sister and her husband called me this night around 10:00 at night. I thought something was wrong, she knows not to call me so late. Ever since I got sick I go to bed quite early. But this night I was having trouble sleeping - something that was becoming increasingly familiar.
I answered the phone to a confusing rush of words and questions. "Did you watch Grey's?" "Has your doctor checked for Porphyria?" "I know you're going to think we're crazy." Once she calmed down, she explained that one of the story lines was very similar to what I was going through. This girl kept having a strange multitude of symptoms, sending her to doctors and hospitals only to be treated individually. She had various diagnoses, surgeries, and was even being told she needed a psych evaluation and anti-depressants... yes it does sound familiar. Sister went on to explain that before she called me, they looked up this disease. It's rare and genetic. Well, I'm adopted and don't have information regarding biological family history. OK, keep talking.
Then she said, "the only thing that doesn't fit is the color of your pee." Being that I'm not one to discuss my bathroom habits, I was quite uncomfortable, but told her that many times my urine is the color of a penny. Our conversation went something like this:
Sister: "the only thing that doesn't fit is the color of your pee."
Me: "what do you mean?"
Sister: "the girl on the show, they figured out what she had because her pee was dark. But you don't have that, do you?"
Me: "well sometimes it's the color of a penny."
Sister: "a penny?"
Me: "yea. that's exactly how I would describe it."
Sister: "oh my god, you need to tell your doctor and get tested for porphyria."
This tid-bit of information made it's way through my family, all members shocked I never said anything. How would I know that's strange? It's happened for as long as I can remember. I always figured I was dehydrated and not drinking enough water. I now talk about pee daily.
To prove my penny-colored point, the next day I peed in a clear plastic container and took this picture.
Armed with my new information and picture, my mom, Steve and I went back to Dr. Facade. During the appointment I was in extreme pain, rocking back and forth, looking for a possible puke bucket in every room we entered, and my mom even said I looked grey with a greenish tint around my mouth. In other words, I looked like the next Heidi Klum.
Dr. Facade finally came into the room and asked me how I was doing. I broke into tears mumbling something incoherent about how terrible I felt and that things were worse. My mom and husband filled her in on the rest. I pulled out my laptop and showed her my pee picture. She was shocked. Like most Porphs out there, this doctor had never seen one of us before. Had only read about it back in med school. She even admitted that she had not even suspected it in any patient in her entire time practicing (about 20 years). She was in over her head. Since I had just learned myself of Porphyria, I only knew slightly more than her. She left the room only to come back holding a text book (not a good sign) and said that she would need a urine sample. Ok, so I give that but of course she didn't know that it needed to be a 24 hour collection and that it needed to be out of the sunlight, or light in general... she was too distracted my the $$$ in her eyes. She even had the balls to say "if you really have this, you'll be famous! I'll write about you in medical journals!" Luckily, I was so sick my usual filter was thinned and I responded "I don't care what you do, just figure it out." I don't think she heard me though over the cha-ching that was ringing in her ears.
So I waited 2 weeks only to get a call from Dr. Facade telling me that I did not have Porphyria. I was devastated. By now I had done my research and put all of my "medical mysteries" and even my extreme reaction to sunlight in direct correlation with this condition. Things that I hadn't even thought of before, now made since. Case in point: about 6 weeks before my wedding, I decided to get Zoom whitening for my teeth at my dentist's office. Knowing how I burn easily, I made sure the tech took extra precaution. She covered my lips and face with gooey covered gauze pads (twice as much as the normal patient) and assured me that there was no possible way I would burn. Halfway through the procedure I felt myself burning. Tech lady added more goo, assured me everything was fine, that the light can just "feel" hot. I tried to believe her, but when it was over I had been right. I was so badly burnt that my face was swelling at a frightening rate. By the time I drove myself home, I could not close my mouth due to the size my lips had grown to. Blisters soon formed and eating became impossible. For 4 days I stayed like this. When I could finally close my mouth, and therefore able to cuss my dentist out, I did. All her office could do was tell me how sorry they were and that nobody had ever had such a reaction. I didn't believe them at the time, but now, realizing I just might have this rare disease, they might have been telling the truth.
So on the phone, Dr. Facade tells me that I don't have this and that she is now going to send me to an allergist. Yes, I did say an allergist. And yes, this makes no sense. I figured the urine sample I had given her at that office visit would come back negative. After all, she didn't know what she was doing, but I was hoping that she would have done her part as my doctor and research how to properly diagnose me. Unfortunately I was asking too much. But how could I expect so much from her? After all, she must have been dealing with a lot after realizing she wasn't going to get rich writing about me.
I told her thanks, but no thanks on the allergist and that we had decided it was time to take a trip to the Mayo Clinic in Jacksonville, FL. After all, Mayo is the best of the best. If I have Porphyria, they'll find it. If I don't, they can figure out what I do have.