Filed under: General Musings, Genetic Testing, Health, Machado-Joseph, Science, Survival, tech | Tags: arthritis, ataxia, blogging, health, jim downey, Machado-Joseph Disease, medicine, MJD, neurology, pain, restless leg syndrome, RLS, SCA3, science
[I’ve decided to be public about my realization that I have the onset of MJD, the diagnosis process, and then living with the disease. Given the rarity of this disease, my hope is that this series of blog posts will help educate others, and perhaps provide some insight into it and related conditions. This is the second post in the series, written a few days after the first, as I started to come to terms with the realization.]
According to the “stages of grief” I should probably be still somewhere around either denial or anger, in reaction to the realization that I am experiencing the onset of MJD. But I’m not.
I’m not some exceptionally well-adjusted person or anything. (Well, OK, I am, but it’s taken me 60 years and working through a lot of personal trauma to get to this point.) Rather, I think that’s mostly due to the fact that I’m not really ‘grieving’ the loss of my good health or anything. In the short term, this is mostly one additional annoyance of aging that I’ll deal with. I’ve already been living with chronic pain for more than a decade, and going through the cardiac catheterization six years ago was educational in terms of forcing me to re-adjust my perception of myself as eternally young. Yeah, that whole thing actually turned out to be a great benefit for me, correcting a previously unknown heart defect, but it was still a moment when I thought that I had a serious heart condition that would end my life sooner rather than later.
So I’ve been through the experience of reframing my expectation of ‘good health’. And I’ve found it relatively easy to accept that there’s about a 99% likelihood that I have MJD.
I realized this when I was talking with the scheduling nurse from the Neurology Clinic, setting up an appointment for my initial assessment with one of the attending physicians who has an expertise in neuromuscular disorders and ataxia. She said that when the staff saw my family history of the disease (from my medical referral) it was obvious who I needed to see and why. I don’t want it to sound like she shocked me, or let the cat out of the bag — it was I who initiated that aspect of the discussion. She just confirmed it. At that point I went from being reasonably sure what my symptoms meant to being all but certain.
And I found that I was at peace with that.
Jim Downey
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Communion Of Dreams 