Machado-Joseph Disease: Not Dead Yet*.

Machado-Joseph Disease: Not Dead Yet*.

August 31, 2022, 5:31 pm
Filed under: Brave New World, Failure, Feedback, General Musings, Genetic Testing, Health, Humor, Machado-Joseph, movies, Preparedness, Science, YouTube | Tags: arthritis, ataxia, balance, blogging, cannabis, dystonia, genetics, health, humor, jim downey, Machado-Joseph Disease, marijuana, medicine, MJD, Monty Python, National Organization of Rare Diseases, neurology, neuromuscular disease, NORD, pain, peripheral neuropathy, restless leg syndrome, science, self care, spinocerebellar ataxia type 3, testing, vertigo, Wikipedia

So, I got the genetic test results today: I have a mild version of MJD.

That’s not an official diagnosis. I probably won’t have that until sometime next year, after I have different insurance (Medicare) and can find a local Neurologist to work with. Because I won’t go back in to the Neurology Clinic at the local large-institution university hospital which shall remain nameless, for reasons outlined previously. And because they didn’t bother to send me the results — which they have had for over a month — until I called them up. And they’re supposed to post all such results to the ‘patient portal’ within two days of getting them. Grrr.

But the results are clear. And since there is little or nothing that modern medicine can do for me that I’m not already doing, I’m happy to just wait.

Knowing the results makes a difference. And while it’s not good news, it could certainly be worse. I know what is going on, and what to expect. Thanks to my sister’s experience, and the experience of my other family members, I know most of the best strategies to manage the disease. Because of my age of onset (about 4 years ago, I think, so about 60 years old), and the type I have, I should experience a normal lifespan and slowly progressing symptoms. I can plan and work with this information.

I intend to continue to write about this, but those posts will probably be just occasional updates when I feel like I have something interesting to say.

Thank you for your good thoughts and support — it’s helped me these past months while I have navigated this experience.

Jim Downey

* https://www.youtube.com/watch?v=Jdf5EXo6I68

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