I was thinking today about my illness and disability. I responded to someone online about my misdiagnosis story and really stopped to think about what it all means.
There’s a truism in medicine that when presented with a collection of symptoms, think horses, not zebras. Yet it turns out that I really am a zebra, using that metaphor.
I also realized that it’s been 20 years since my first symptoms to an actual, correct diagnosis. What I have resembles MS to a non-expert; they just see the extensive white matter damage on the MRIs of my brain and automatically think it’s MS, even though the MRI results look nothing like MS.
Instead, it turns out that I’m that person who actually has a much more rare disease instead. My new neurologist ordered genetic testing for me but she is pretty certain that I have one of the leukodystrophies, of which there are over 50 different types. She’d just like confirmation of which one.
She thinks that ovarioleukodystrophy makes the most sense, especially given my history of irregular menstrual cycles and fertility problems. I guess that in that respect, it’s even more remarkable that my children were conceived at all than I already thought it was.
That also calls into question another diagnosis I’ve received over the years of polycystic ovarian syndrome (PCOS.) Much like MS, I never had a lot of the classic telltale symptoms of PCOS, either. And now maybe it’s possible that I never really had it at all.
If I had lived out the whole rest of my life in Michigan, I’d still be being told that I had MS and would have nothing to support my gut instinct that there was something else going on. I’d still be getting pushed hard to take dangerous medications that wouldn’t help me at all.
For my future, I think it also means that I’ll always have to be within driving distance of a world-class research hospital. Clearly, the generalist neurologists have no idea about how to deal with what I actually do have because they probably never see it.
I tried to look up research studies for leukodystrophies and one recent study only had 10 participants total, and that’s among all 50+ variants of leukodystrophy. This disease is truly very rare. However, I also wonder how many people with “MS” might actually have leukodystrophy and just got misdiagnosed instead. It was only because I was so informed and relentless in seeking the answers that I finally got one.
I also think I’m going to donate my body to science after I die, in hopes that the researchers can use my case to help other people with the same disease.
The bad thing about having such a rare disease is that nobody really knows much about it. There’s no treatment, really, though there is some potentially promising work in using bone marrow transplants. I’ve heard that’s extremely painful, so I think I’m going to wait until they’re more sure it works. But if I wait until I’m only on Medicare, I’m sure they won’t cover it anyway. Plus, it only stops progression and doesn’t actually reverse any damage already done. I can probably safely assume that the way I am now is as healthy as I can ever be in the future.
It feels kinda strange to know that I have a rare disease that the medical community doesn’t know much about. Yeah, it obviously affects my functioning quite a bit, but there’s nothing they can really do for me. In that regard, I often feel like my husband’s cancer is a lot more of a “real” disease than mine is.
Nobody can tell me how my disease will progress because they don’t know, either. I may become confined to bed and unable to feed myself or use the bathroom independently in the future (in which case, I’m screwed because I’ll be reliant on Medicare and their care homes are known to be pretty subpar.) Or I may just be like this for the rest of my life, needing lots of regular naps and having spastic, painful legs. No one knows and I find that to be the scariest thing of all.
I won’t even have my husband, my greatest advocate, around to help me.
I just have to hope that I never get substantially worse. I have to avoid stressful people and situations like my life depends on it, because it probably does. My condition gets much worse under a lot of stress.
I can’t lie, though: sometimes it feels like it would be a whole lot easier to just have MS. At least there are support groups and treatments for that.