So big news for me, and this blog is all about me. If you aren’t interested, don’t bother. Of course, if you weren’t interested, you probably wouldn’t be here - so whatevs.
As the apocalypse rages outside my nice safe walls, I have finally, after a twenty year quest, received a 100% certain diagnosis (Hey. after years of ‘maybe’ diagnoses that didn’t pan out, it’s a big step).Through gene sequencing, modern science has proven I am a mutant. Not only do I have brain damage, I’m a mutant too! I have excuses for anything now!
I have Kennedy’s disease (no relation to the American political dynasty) or Spinal Bulbar Muscular Atrophy (SBMA) in medical speak. It’s a genetic mess up that leads to protein buildup in motor neurons That buildup kills the motor neurons, and the muscles atrophy cus there is no way to make them activate - with the neurons dead and all. If the damn neurons knew how to take a crap, and rid themselves of waste products, I’d be fine. But no...the tight sphinctered jerks would sooner die. I need someone to invent a neuron toilet, but no one has figured it out yet..
It primarily affects the brainstem and spinal neurons. The facial and throat muscles take the worst of it, but the rest of the muscles get easily fatigued and cramp with use. The cramping sucks. I seem to live with teeny micro cramps in all of my muscles all the time. If I strain them at all, they macro cramp. The good news is I look fit and trim without effort. The less good news is that every one of my muscles hurts all the time. It feels like the skin is what hurts, but it should be the muscles, so whatevs.
It’s a bit odd that it started in my peripheral nerves - hands and feet - but the genetic test is pretty definitive. It’s an X-linked regressive with a one in thirty thousand (or fourty thousand, or 2.4 in a hundred thousand depending on reference). It could be that the peripheral nerve thing is a separate problem, but that’s pretty unlikely...then again, I have been hit by cars in the same crosswalk - twice - and have a one in thirty-ish thousand disease confirmed, so maybe the diagnostic folks still have some more surprises in my future.
I’ve decided I’m collecting medical conditions, with them each being one in a ‘something’ chance, by having several of them all in one person, other people are good! It’s all a selfless act. The good news is by believing that, it makes it alright - somehow. The scientist in me struggles to believe it, but he gets distracted by shiny stuff easily, and I can pretend successfully some of the time.
I mean the hiatus hernias and high blood pressure and slightly high cholesterol are pretty common. The brain damage and shattered legs were collected in an rare event - as I survived it - and this mutation doesn’t come along everyday, so that gets into smaller and smaller combined likelihoods. The genetic thing comes from my mother, and she tells me I’m one in a million all the time (in a good way...I think - hmmm), so I needed something to go along with the one in thirty-ish thousand thing to make it a million! Wait. I only need a one in thirty three to go along with the Kennedy thing to make a million, and the hit by car bit (or surviving after being hit - twice) was way more unlikely...in total maybe I’m one in a billion! (The scientist me is trying to remind me that each person alive at the moment is one in 7.7+ billion, but I’m not listening). Man I’m special! (In a good way, I think).
The cool part about a diagnosis is it comes with a prognosis! The prognosis isn’t a hell of a lot of fun, but if it’s going to happen and now I know it, I can plan ahead. Kennedy’s disease doesn’t necessarily limit lifespan, but will lead to wheelchairs for any distance (already) and maybe feeding tubes, and possibly lung support - breathing tubes or even a ventilator eventually. Luckily the world is busy stocking up on ventilators, so if I end up needing one, they should be plentiful and cheap by then. Look on the bright side!
The slow progression, to date, leans towards never getting that far, but I have already had issues with my larynx slamming shut (leading to a bit of difficulty getting air into my lungs), so I’m not totally in the clear for lung assistance and stuff. The larynx thing isn’t fun, if you haven’t had the pleasure. It turns out the body gets really uptight when it isn’t getting oxygen in. It is real work for the rational part of the brain to get a word in just then, so drinking water, and swallowing, and trying to get the larynx to lighten the hell up and stop killing you has to be done while the emotions are creating a heck of a racket in the background.
I’ve been dealing with a gradual declination in my physical world for twenty years, so knowing why doesn’t change much, except making some of the worst case stuff more certain. That muscle degradation in the face and neck will dominate my concerns is new. I was expecting more arm and leg corruption, and that my big mouth would be safe. I’ve already started shifting to a new writing career to keep my mind distracted from chronic pain without having to move much, and having a diagnosis verifies that writing is a good choice.
I shouldn’t ever completely lose function in my limbs, I’ll just have limited range, strength and endurance, so a wheelchair should be a movement aid, not a constant need - which is nice, cus lots of places are very wheelchair friendly - I learned that during recovery from the car thing, the second car thing. Being able to stand up and walk short distances, and even lift my chair past obstructions should be achievable.
I am working with a local fabrication shop on modifications for that future wheelchair. Bucket seating with 20 inch bike wheels that retract to get through doorways, but splay wide in the open to assist stability and high speed turning. A couple motors from e-bikes and I should be good for traveling. Flames shooting out the back on demand, and an air horn as addons. A recumbent, motorised bike-ish with a tripod seat lifted for indoor seat re-elevation, and lowered to drop the center of gravity when traveling. If anyone has ideas, please contact me!
I’m looking forward to potential breast enlargement (one of the possible symptoms). They’re probably less interesting if they're my own, but brightsides! ! It doesn’t always happen, so I’ll have to wait and see, but I’m hopeful. The fatigue and pain are already old friends, so that doesn’t change much. They might even figure out how to cure me before it gets too much more icky. I have to make sure I’ve built the wheelchair before that happens.
I guess the wheelchair is only a thing if this covid bit goes away, so I can go back outdoors. Alberta has done a reasonable job of keeping a lid on it so I should be good for a while still. Since they made masks mandatory indoors, people have started using them more, so it might stay contained. So far ‘not America’ developed countries have done a decent job of keeping the tail low, if long, so I’m hopeful. The Covid thing has also helped keep me grounded through all this. It’s not like it’s just me dealing with crap right now.
/Aside/
The virus has spread so far now that mutations are certain. The dominant strain now is a mutation on the original Wuhan virus. It is more transmissible and has therefore shot ahead in the numbers game. Some of the Eastern nations that got ahead of the pandemic with less contagious strains are struggling to control it now, with the same tactics. (Japan, S. Korea). There may be another, highly transmissible variant with milder symptoms somewhere (South East Asia?), so lets all go wish that one good travels (I can’t find where I read this, but it was a reputable news site, and whatevs).
In a similar way, once significant enough populations build up a resistance, the evolutionary pressure will create strains that avoid that resistance. Luckily, more deadly strains lose the evolutionary battle because viruses don’t multiply in corpses. Unluckily, it can take a while before the virus figures that out - see Spanish Flu.
Temporary vaccinations for particular strains, and better treatments are fairly certain to help adjust to the new normal. Most likely, there will be a less deadly mutation that becomes prevalent with it giving enough resistance to other strains to knock them out. In the long run, it’ll become a thing we just deal with. Of course, in the long run…
/End Aside/
One of the mental tricks I’ve used is to focus on the now, and the immediate future, and to just keep moving forward into that now. .I try to learn from the past, and give the future proper respect, cus it is going to do it’s thing, but I try to concentrate on moving ahead from where I am now. Unexpectedly, knowing what the future likely holds made it harder, for a while, to keep that focus on moving forward from this ‘now’. I’ve had some time, waiting for the test result, to get used to the idea, so it’s pretty much settled into place. It’s odd the kinds of things you get used to in life.
So I just need the big finish that swings this into an uplifting story about bad things not getting in the way of the surging human spirit to accomplish stuff! It’s getting to be a big lift, but I’m sure there is something...Oh, I am talking to a publisher! He hasn’t said yes yet, but I’m hopeful. I figure that Karmic thing lets good things happen once in a while, and I could use some ‘good things’ just now.
Lots of the readers of this have probably been on my beta reader list, but the latest version has been improved by assimilating the comments of the beta readers that gave comments - even the ones who only got half way through and put it down. That you put it down means tons. I’ve tightened up the story so that putting down thing shouldn’t happen anymore...or might not happen...or will only occur for really big, showy distractions - buy it anyway and help out a poor cripple. That’s it! A new sales tool! If I can’t convince you to read it cus it’s good, at least buy it to keep a poor cripple from starvation! I eat a lot...