Monday, September 13, 2010

How Rare Can We Go?

Did I not mention in a previous post that I did NOT want to be in that rare 1-3% that DNA would not diagnose? Well I am.

Dr. Premier called today with the AIP DNA results.... negative. 98-99% negative. Honestly, I wasn't too shocked, I never thought AIP totally fit. However, in the last couple of weeks I have been researching the types of AIP and hoping that the results would prove me wrong.

So where do we go from here? No I'm really asking. Anyone out there have an idea?

Well this is the plan:
- go to Rheumatologist because they are the only specialist left to go to. Due to the rash we need to apparently rule out rare forms of Lupus (even though I've been tested for Lupus like 7 times).
- was planning on seeing Dr. Bloomer in Birmingham, AL (specialist in Porphyria) but he doesn't accept my insurance and once I questioned why I was really going (I'm not having severe attacks at this time so he can't see me sick, I don't have a rash he can examine) that visit was ruled out. Oh and he was "too busy" to even talk to Dr. Premier on the phone regarding my case and what he advised to do next.
- if rheumatology tests come back negative, Dr. Premier will proceed with a differential diagnosis of Porphyria.
- call genetic counselor at Mt. Saini tomorrow morning to discuss possible ALAD-Deficiency Porphyria. Yes, this is so rare I can't even believe it's a possibility, but it's either this type or I have a new mutation that prevents DNA analysis.

So that's where I am. I can't believe it. Rare disease was good enough for me.... now I've been catapulted into the rarest of the rare. Anyone else out in porph world been in my shoes?


  1. I'm so sorry! There is one thing I have found out recently that I wasn't aware of.....I take Flaxseed oil and Biotin to try and keep my hair from falling out, I read that Biotin will cause a false negative and also when I'm in an attack I do carb overload and get "drunk" on any juice I can find (for the glucose benefit). I read that doing this can also cause a false negative so in a nutshell.....I've been shooting myself in the foot. Until recently I have found no doctor that would give me pain pills because they could find nothing wrong so I was doing everything else to try and ease the pain which in turn could have been what was causing my numbers to be too low....grand huh? I really do feel your pain.

  2. I understand your frustration, but when they do a test for a single mutation, you're often not going to get a clear answer. AIP2 also known as Chester porphyria is still a possibility that is not looked for in a standard AIP screening and is very difficult to diagnose. HCP is a possibility due to the skin rash issues plus the acute symptoms as is VP, unless the porph tests that they did include those forms. However, even those can show up negative with folks who do have porphyria.

    I've yet to convince a doctor that they should even test me because I'm on military medicine where doctors could care less about doing anything other than pushing pills at you (which always makes me worse and starts attacks). Have you joined any of the Yahoo groups for porphyria? I've found them to be priceless in the information I've gotten from other folks who have it that match my symptoms, even if I have yet to get a clear DX.

    Good luck!