Happy Anniversary To Me

Today is my one year anniversary of fainting on the treadmill and this whole thing starting... or at least when I realized there was more to it than just sporadic and random illness. I am glad that tonight I am at home watching TV with my husband and not in the hospital, hooked up to morphine and monitors. In the last year I have seen doctor after doctor, scans, tests, and gallons of blood drawn ... but I have not fainted again.

Unfortunately, on this anniversary, I also have to share that Dr. Premier called Wednesday to tell me that both DNA results came back negative. I do not have HCP or VP. Of course I could not believe it. He explained that the team of geneticists and specialists all agree that I do have Porphyria, they just have to find what kind. We had originally ruled out AIP due to the photosensitivity and I had my blood enzyme test come back negative - which typically indicates not AIP. However, Dr. Premier said that they enzyme tests only accounts for 85-90% of AIP patients. So now Mt. Saini is testing my DNA for AIP.

I admittedly have not done much research on AIP because I never believed I had it. So now I am playing catch-up. There are three types of AIP and some can involve skin rashes...maybe I do have this type after all. I also didn't think I had AIP because of the severe pain that comes with these attacks. I realize I had severe pain, but didn't think it was as bad as what I've read from other patients. Dr. Premier thinks otherwise, reminding me of the severity of my last attack when my memory problems began and my leg went numb. My mom also told me that I might have a large pain threshold (when I broke my arm as a child I didn't complain about it for days and only went to the doctor when she saw I wasn't using that arm regularly). Realistically, it's probably a combination of a lot of things, things that don't matter, as long as I can get my diagnosis.

The worst situation Dr. Premier thought we might be looking at is having such a rare mutation that research cannot test for at this time. Again, Porphyria is known as an "orphan disease", meaning that it is not financially beneficial for medical research to be done due to the small amount of sufferers. What this means for some patients (possibly me) is that there are people out there, sick and suffering, that are desperate for a diagnosis and help, that cannot receive it. This disease is already very rare, and these people are the most rare of this disease. These people lay in the 1-3% that DNA testing cannot account for.

So my blogging friends, it will be another 2-3 weeks for the DNA test for AIP to come in. In the mean time, if anyone has additional information on the different types of AIP, please send them my way!

Porphyria Community

I started this blog for myself. A way to deal with the sickness, the unknown, to tell my stories to someone other than my husband over and over. But what I didn't expect was to find a community of other Porphyria patients and the caring and understanding that comes with that. I share my story in hopes of helping others. I post embarrassing pictures because I know most of you have been there too, and are wondering if this is an experience shared by other Porphs. My rash pictures in particular were posted because I couldn't find any images about Porphyria rashes besides the common VP blisters. I started this blog to put information out there that I couldn't find.

In return, I have found something that I couldn't find in all the research, doctor's visits, or hospital stays... a community of Porphyria patients. You have emailed me your stories, asked me how I'm feeling, and taken the time to read my blog and laugh at my pictures. You live in California, New York, West Virginia, and even Switzerland. You are my new friends and the only ones in my life who truly know what I've gone through.

For this post, I want to thank you. Thank you Porphs for reaching out to me and sharing your stories with the world. There's not much out there about this disease, and what is out there doesn't encompass the true nature of an attack... or the aftermath. So friends, please post comments here with an email address or facebook page that others can reach you at along with the type of Porphyria you have. This way, we all have someone to talk to, to share with.

For those on Facebook, there is an American Porphyria Foundation group that is really great. Hundreds of Porphs are there sharing treatment plans, answering questions, or just needing support.

Hope all of you are doing well! :)

All It Takes

After everything I've gone through in the last 2 years (well really the last 25 years) all it takes is 4 small viles of blood. That's it.

I went in to Dr. Premier's office Monday morning for my DNA blood draw. I signed some papers, confirmed that the shipping box was 100% light-blocking, and had my blood taken. It might have been the easiest doctor's appointment I've had in a long, LONG time.

To be honest, as I have been the entire blog...even the embarrassing things, symptoms, and yes, pictures... the DNA testing is expensive. No, insurance does not cover it. No, I do not understand why nor has it been fully explained to me... but at this point, I don't care. I need this diagnosis.

Now, like so many times before, I wait for the results. It will take 2-3 weeks before I hear anything. In those weeks I'm praying that I'm in the 97% (DNA testing for Porphyria yields positive results for 97% of Porph patients). And really... I already have a disease that is highly unusual... what are the chances of being in the rare 3% of a rare disease? If I am, I'm totally buying a lottery ticket.

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%.

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.

Irony

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.

Sincerely,

Your only hope at treating a Porph

An Old Friend

She's an old friend that I no longer want in my life but don't know how to tell her. I don't speak her language. She is silent but demanding. When she's around, she calls the shots. If I want to work out, she gives me enough time to feel alone before appearing and telling me to stop. She has an entourage - fatigue, nausea, stomach cramping, headache. She's an old friend that comes and goes with free will, but I don't want to be her friend. Her name is Vertigo.