Friday, July 30, 2010

DNA Testing

Since I have not gone into another attack after stopping my birth control pills (estrogen) and changing my diet, I can't get my diagnosis. So after talking at length with Dr. Premier, we have decided to send my blood off to New York for a stay at Mt. Sinai's genetics department.

Mt. Sinai is the ONLY facility in the United States that performs DNA testing on all of the Porphyria types. Thankfully, we have mine narrowed down to VP or HCP, so only these two tests will be ordered. I should know my diagnosis in 2-4 weeks.

Sidenote: DNA testing is 97% accurate and can sometimes miss rare mutations of Porphyria. After everything I've been through...please don't let me be in that 3%.

Monday, July 26, 2010

While You're Down There... Can We Talk?

Today I had an appointment for my yearly OB/GYN check up. I was slightly nervous telling my doctor about this whole Porphyria thing. All of the doctors I have seen look at me like I have multiple heads, write vigorous notes, and start flipping through medical dictionaries/reference materials/medical journals...the like. Beyond my concerns that my OB/GYN, lets call her Dr. Gyno, not having much knowledge about this admittedly rare disease, I was more worried she would say that she thought I would need a different doctor that works with more high risk patients and that she didn't think pregnancy would be a good idea for me... which I have heard from other Porphs.

However, my appointment took a turn I didn't expect. Rather than Dr. Gyno being shocked about my new medical information, she barely blinked! At first I wanted to ask if she had heard me. But then she said, "oh, ok. Well I've had 3 Porphyria patients before." It's an OB/GYN miracle I tell you! So rather than shocking her, I was the one left speechless.

Beyond that (I know there's more) Dr. Gyno proceeds to tell me that while she was a resident, her mentor was one of the leading experts in the USA for Porphyria. Unfortunately he has since passed away, but that she learned a lot from him. AMAZING!

She and I had a great talk about the best options for birth control (since many contain hormones that are triggers for Porphs), planning future pregnancies and that it might be best to have a team in place before my husband and I get preggers, and she is even going to help Dr. Premier in finding local doctors that have knowledge/experience in treating Porphs.

I cannot believe my luck and am feeling so relieved that not only is Dr. Gyno NOT scared off by my Porphyria, but she has knowledge, experience, and other contacts to help me.

Wednesday, July 14, 2010


It's been about 5 months since I left Dr. Facade's practice...unbeknownst to her. After reading in my medial records that she had been writing I needed a phychiatric evaluation, that I seemed severely depressed, and could not "appreciate" my edema yet telling me to my face that she understands what I'm going through, that she's going to get to the bottom of this, oh and prescribing me potent diuretics for the edema she never thought I had.... I fired her.

So yesterday I get a voicemail from her nurse (who was always a bitch to me, probably because the whole office thought I was a nut job) asking for me to call them. She continued to say that they had not received any medical records from my visit to the Mayo Clinic. Dr. Facade has been reading more into the condition "you think you have" and the porphorins (and she didn't know this word and tried to pronounce it at least 3 times before giving up). So If I could please call their office so they can contact Mayo and get my records.

I am preparing a letter to send to Dr. Facade. It will go something like this:

Dear Dr. Facade,

I appreciate your concern in my health care now that almost 5 months have passed since I last contacted you. As you know, I did visit the Mayo Clinic after almost 6 months under your care. In that time, you were only able to send me on a wild goose chase to Atlanta specialists, therefore jacking up my medical bills but leaving me with no answers.

As you have never referred a patient to Mayo before, I'm sure you are unaware of their medical records policy. This policy clearly states that new patients must bring hard copies of all medical records pertaining to their condition. In accordance with this policy, I obtained my records from your office. I bet you didn't expect me to read months of your patronizing notes...but I did.

I know how excited you were at the thought of having a Porphyria patient under your care and your disappointment when your test came back negative. I'm sure by now, with all the "research" your nurse referred to, you have learned that you did this test incorrectly. I'm happy to report that I do have porphyria and am working to determine my exact type. Unfortunately for you, you're fired. You no longer are privy to my medical records and do not have permission to write to any medical journals regarding my case.

Once again, thank you for your recent interest in my health, but it's too little, too late. Good luck with your practice.

Your only hope at treating a Porph