Friday, August 27, 2010

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!

Monday, August 16, 2010

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! :)

Wednesday, August 11, 2010

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.