Friday, April 10, 2009

My MS Diagnosis Is In Doubt

I've always been a little bit different, so it stands to reason that my experience with MS would follow suit. I've had doubts about my diagnosis of Primary Progressive Multiple Sclerosis right from the start, because in all of the many hours I've obsessively spent researching the disease and communicating with other patients, I've never come across another case quite like mine. The neurologists have always labeled my disease "atypical", and now it seems that it might be so atypical that it's actually another disease.

Unlike the vast majority of MS patients, my MRI images have not changed one bit since my diagnosis in May of 2003. They've always shown just two lesions, a small one in my brain, and another at the base of my brainstem. The one in my brain is probably not doing anything too nasty, but the one near my brainstem is causing me tremendous problems. Here are some images of the Wheelchair Kamikaze's brain, with arrows pointing out my two lesions. Click on each image for a larger version.

Quite a winsome brain, wouldn't you say? I'm quite attached to it. Or, rather, is it attached to me? Maybe I'd best see a metaphysician...

The literal meaning of "multiple sclerosis" is "many scars", because the disease is named for the numerous scars, or lesions, that it leaves on the central nervous system of its victims. Unlike the MRI images of most MS patients, which change over time, mine have been rock stable, and rather than multiple lesions, they show only two, so my disease would more correctly be called "Double Sclerosis", if there were such a thing.

Examinations of my spinal fluid have also never shown any of the telltale signs of MS, yet my physical condition has continued to deteriorate steadily since 2003. Back then, my only symptom was a slight limp; fast forward to today and my right arm and leg are pretty much useless, and my left side is weakening, after being left untouched for the first four years of my illness.

Because my disease is so atypical, my neurologists recently decided to review my case and run some more tests. Lo and behold, my longtime suspicions about my diagnosis have been validated; the doctors now suspect that I don't have PPMS, but rather some other neurodegenerative disorder.

Unfortunately, it's not clear what I do have. The possibilities include Neurosarcoidosis, AMN, a spinal tumor (very unlikely, I'd be dead by now), PLS, Sjogren's, and a whole host of much rarer diseases, such as mitochondrial disorders. It could also still turn out to be PPMS. Quite the menu of medical delights, isn't it? Really, I'm not that hungry, I think I'll skip the entrée, check please...

Needless to say, this has all been unsettling, confusing, and scary. Most of the alternate diagnoses offer little in the way of treatment, so, like PPMS, they are currently untreatable and incurable. They're all also progressive, which paints a forbidding picture of the future. So, once again, it's time to gear up for the fight. After licking my wounds a bit, I'll force myself to choose optimism over pessimism, and then start fighting for answers. Whatever this disease is, if it's going to take me down, it's going to take me down swinging like a drunken brawler, with both fists bloodied. Well, maybe not my weak, floppy fist, but I promise, my other fist will definitely be bloodied...


  1. PPMS may be a tough nut to crack, but our perseverance will never be cracked. Keep up the good fight, Kami.

  2. What a lovely brain you have there, Marc.

    I know you won't give up until you have not only the name of the 'problem' but will find a way to the solution! It's like a detective story isn't it. I'm sure lots of your fans will help in your search. You can be sure, I will!

  3. The more things change, the more they stay the same. Whatever is going on in your CNS I know you will give it your best fight. You will not go softly .... blah blah blah. But at least you want to find a damned NAME for it!

  4. Hi Marc,

    I wouldn't be hungry anymore either not once I had read this menu of medical delights.

    I often wonder about my diagnoses too, was told PPMS in July 2006 then was hobbling with nordic walking sticks.

    And by the November I was in a w/chair very quick, too quick but it is for everyone isn't.

    Oh well onward and upward.

    Hope you get clarity about your situation.
    Take care.

  5. wow, that is definitely unsettling. you always did mention the diagnosis was a bit shaky. on a more important note, you didn't point to the very large part of your brain devoted to "Star Trek."

  6. Mark,
    You're still you, a wheelchair kamikaza is still a wheelchair kamikaze, still smart, funny and as all kamikazes are, crazy when in motion.


  7. Thanks for the support. It's bad enough having to deal with just being sick, without having to deal with the politics of juggling the different opinions of different doctors. I'm ready to pull my hair out. Unfortunately, with only one good hand, I'll only be able to pull it out on one side of my head. How unattractive...

  8. Marc-

    I have also been "atypical" for the past 5 years: lesions in weird spots that don't change much, negative spinal, pooor reaction to steroids, etc. I was very skeptical that I had MS; he told me that I have a demyelinating disease that we might as well call "MS" because most of those diseases are treated the same way.

    I'm still occasionally have tests to hunt for the "real" disease but have mostly made peace with calling it MS.

    Good luck to you.

  9. Like the earlier comment I too am "atypical". I have been struggling with my health for almost three years now. I too have only two lesions and my spinal fluid looks great.

    My health goes in cycles: months of cruel fatigue, neuropathic pain, soreness, and other lame things like lack of feeling in my hands that gets worse and not better.

    We call it "atypical MS" because I have tested for almost everything else and they all make me look like the healthiest guy in world :).

    I hope you find what you need and have the strength for each day.



  10. Hi!

    please view blog re misaligned Atlas/ms misdiagnosis

    it was a complex mess, but I got to the bottom of it in the end. The only symptom that I didnt have was fatigue