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!

1 comment:

  1. Hi, Hope you get your DX. Luckily my porphyria triggered late in life (thanks to exposure to cats and two glasses of wine and Atkins low carbohydrate diet all in the same week.) I have had several of my tests done incorrectly and have not had the patience to get the DNA tests done. But my physicians gave me the "clinical diagnosis" of porphyria. We are guessing it is HCP, as I have the acute attacks and the skin's reaction to UV (fluorescent lights and sun.)

    You post about your sister's calling you and telling you about the Grays Anatomy episode on porphyria was interesting. I diagnosed mine while reading the book "Paula" by Isabel Allende. Here is a link to a post I did to document what I do to control the porphyria. Hope it helps!

    I've learned a lot from your blog...thanks!

    Hugs and keep well,