Here’s a hypothetical situation. Ignore the technical fictions. They are of no concern to the point. Please pretend this is all entirely possible. It will be explained at the end.
Let’s say you drive a Chevy Tahoe 4x4. It’s heavy, yet it’s a newer model, with a strong and reasonably fuel-efficient V-8 engine and a 20-gallon fuel tank that will take you a long way with the Tahoe’s average 18 miles per gallon. You use your Tahoe every day in your personal life, as well as for your work, which requires a good strong, reliable vehicle. You’re also used to being able to refill your 20-gallon fuel tank every day if necessary, in order to do your job.
You enjoy taking your Tahoe on trips, especially to the mountains. It’s no stranger to off-roading, and rutted mountain trails are simply a fun pastime. On many occasions you’ve driven it up a steep forest roads to beautiful campsites that only people with strong 4x4 vehicles ever get to see. Your Tahoe’s paint is a little dulled, but it’s still in pretty good shape. It’s not very old, after all. You enjoy your vehicle, and enjoy being able to drive it well enough to keep up with better off-roaders as well as faster street cars. It’s a good all-around, solid, reliable vehicle, with plenty of power and fuel capacity to do whatever you desire … well, almost.
Now, imagine that one morning you go out to your driveway, get in your Tahoe and turn the key. Something’s different. You’re not sure what at first, but something doesn’t feel right. You get out to inspect. It looks exactly the same. You get back in and continue your routine, on the way to work. You notice immediately that the engine doesn’t feel as strong as usual. It’s running a little rough, too. Better get it to the mechanic to check it out, you think as you floor the gas and the vehicle struggles to pass a slow, little truck in the other lane.
That day at work, your Tahoe sputters and shudders all day. It can’t pull the same weight around the job site as it normally does. That afternoon, while taking a trailer to a remote job site on a rural hill, the tires begin to slip as it struggles to pull up the mildly sloped gravel road. You reach for the 4x4 button, but it doesn’t work! Nothing happens. You’re forced to call for help and wait as someone with another 4x4 truck comes to pull your load to the job site for you. Dejected, you take the rest of the day off and take your Tahoe to the mechanic.
Now it really gets interesting… On the way to the mechanic you notice that inexplicably the Tahoe is nearly out of fuel! You had just filled it up the day before, and there’s no way you’ve used that much fuel, you think. Just to be sure, you pull into a gas station and start filling up. After one gallon is pumped into the tank, the pump shuts off and the Tahoe spits out the nozzle and shuts its own filler cap. You can’t get it back open, regardless of how hard you try.
I must be going crazy, you think as you get back in the vehicle. It doesn’t want to start. Then, once it finally grumbles to life with a tremor through the whole vehicle, it will barely move as you pull onto the road, heading to the mechanic. You finally reach the mechanic and he quickly puts the sickly Tahoe on the lift to see what’s going on. Here’s your problem,he says casually. He begins to point out things that have been changed about your vehicle without your knowledge.
Your trustworthy, strong V-8 has been replaced by an old four-cylinder. This tiny engine would barely have enough power to move the heavy Tahoe. The engine appears old, in need of overhaul.
Your 4x4 system is gone! Someone has converted your Tahoe to a two-wheel-drive when you weren’t looking. It’ll have a hard time getting up those steep, gravel-and-dirt mountain roads without the 4x4 system.
Your 20-gallon fuel tank has also been replaced by a 10-gallon tank. The strangest part is that it has some sort of input restriction. You can’t figure out how it works, and the mechanic isn’t really able to explain it, but it seems that from now on you will only be able to add about one gallon of fuel to your tank per day, regardless of how much fuel you’ve used. (Speaking of fuel usage, you will eventually discover that instead of averaging 18 miles per gallon, you now barely manage 9 mpg. That’s on a good day.)
Can all this be fixed? You ask the mechanic. Can’t you put it back how it was? It doesn’t have all that many miles on it. It’s been a good vehicle.
No, he says, none of this can be changed back. For some reason it’s all been welded in a way that can’t be undone. A machine doesn’t exist that is capable of putting it back how it was. Your Tahoe, despite looking normal, will forever be a shadow of what it once was, barely able to tow a tiny trailer on days when it’s running right. By the way, don’t expect it to run reliably, the mechanic says. There will be many days, he expects, that you won’t be able to start it at all.
You consider selling it, trading it in on a new version. You discover that you’re not able to get rid of it. Without selling it, you’ll never afford a new one. Even after a long conversation with the banker, which involves much crying and pleading on your part, the banker refuses to give you a loan for a new one. You’re stuck with your tiny-engine, unreliable, fuel-inefficient, small-tank Tahoe until you die, it seems. seems.
You try to continue your job as you have for the past several years. Your vehicle just can’t manage it anymore. Eventually, on one hot, humid morning when the Tahoe won’t start, you get fired. It never wants to start when it’s hot, and runs out of fuel faster for some reason. You ask for a chance to take some time off to try other routes of getting the vehicle fixed. No, they say, you’re done.
Now, jobless and stuck with a vehicle that’s too unreliable to get you to any job, much less perform it, you’re left with no choice but to rely on your spouse alone to pay the bills. You have to move somewhere that you can afford, which isn’t really in a place you want to live, but it’s OK. At least it’s affordable, and the house is well built – which is good, because you’ll be spending a lot of time there. Your Tahoe won’t take you many places anymore.
Here’s the real shitty part of the whole thing: No one but the mechanic and you can tell that anything is different about the Tahoe. It looks the same. No one else can see anything different, and they don’t understand when you tell them it won’t perform as it once did. They think you’re just being lazy, not wanting to put it to work. After all, some days when it’s running well they see you heading down the road to the store. It seems fine to them, watching as you drive by.
They don’t realize that you’ve got your foot nearly to the floor just to make it up that low-grade hill in front of your house. They don’t realize that you’re hoping you’ll actually get all nine miles per gallon out of that tiny tank, which is already sitting at only seven gallons. They don’t realize that you’re hoping the Tahoe will keep running to get you to the store, and crank back up when you start to head home. They don’t realize that you could very well run out of gas and have to call someone – possibly them – to come tow you home. They don’t realize any of this, because the Tahoe looks exactly the same as it always has, and they aren’t sure they believe you when you tell them what the mechanic said. They won’t They won’t you know they don’t. Why would they? They can’t see that the engine’s been changed, or that the fuel tank won’t hold as much, or that it doesn’t get the same mileage it used to. And how does it make any sense that you can’t fill the fuel tank up any faster than that? This is a fairly new looking Tahoe. It should still perform like one!
But it doesn’t. There’s nothing you can do about it. You have to find a way to live with your vehicle’s limitations, because you can’t get a new one. You have to learn to ration your fuel, so that you don’t run out of gas. So, if you have an appointment on Friday that will take half a tank of gas to get to, better be sure you don’t go anywhere Tuesday because you can only put a gallon a day in the tank. You can’t just go riding around the trails with the kids for fun whenever you want, even on days when it’s running well, because you have to be mindful of what you have to do later on in the week, and not waste fuel that you can’t replace quickly enough.
There will likewise be no more mountain road camping. Without the power of the V-8, and the four-wheel-drive, the Tahoe won’t make it up the road to the remote campsite. And even if it did manage to scrape and claw its way up the hill with its tiny engine putting out all the power it could muster, the tiny gas tank would be empty by the time it got there. Then you’d be stuck, waiting for days as friends bring a gallon of fuel a day up the mountain to put in the tank, before you can coast back down the hill, hoping to make it home.
So you learn to live with it. Some days it just won’t start. Some days it starts but won’t shift out of first gear. Some days it starts and runs fine, but you realize there’s only a gallon of gas in the tank, so you don’t dare go anywhere because you know you wouldn’t make it home. You modify how you live, in all aspects of work, family, and social life, to function as well as you can with your vehicle. You now hate your once-prized Tahoe, and you’re stuck with it until you die. You learn to accept it and deal with it.
But, that shitty part remains. Some people just don’t get it. They think you’re making excuses, being lazy, and using the Tahoe’s limits as a convenient reason to sit on your ass. They don’t understand that you can’t stand being limited, that you HATE not being able to do all the things you once did, including working hard all day and feeling satisfied about what you accomplished. Now, when you think about it too much, and think about how some people now perceive you, you just feel like a big turd. So you try not to think about it. You try to move on as best you can, doing what your Tahoe will allow, whenever you can, and try to ignore those people who still, despite your explanation, don’t seem to understand. What else can you do?
This is an analogy to explain what has happened to my body as a result of a metabolic disease that became active a few years ago. Although my disease has not yet been laboratory confirmed, my neurologist says he has 98% confidence in the diagnosis. This condition, called
Phosphorylase b Kinase Deficiency with Adult Onset, is one of the few forms of metabolic disease of the muscle that displays adult onset and is often misunderstood even by physicians. It was discovered only in the past 20 years or so, and the rate of diagnosis continues to climb. Many of the people diagnosed with this rare metabolic disease had previously been diagnosed with chronic fatigue syndrome, depression, or some other blanket generality in an attempt to explain the sudden onset of malaise, weakness and loss of endurance.
Read over these few pages again, this time imagining that the Tahoe is your body. Your flesh and blood. Your muscle and bone. It will help give you some idea of the circumstances that I and others with these types of disorders live with, and will continue to live with unless a cure is found.
Actually, I manage fairly well, relatively speaking. I regulate my diet, constantly feeding fuel into my bloodstream – long-chain sugars such as fructose work best – in order to keep moving. That’s why you’ll usually find me with a soft drink in hand, steadily sipping. I also have to pace my exertion and think ahead about what I will be doing, to be sure enough energy is stored in my muscles to do whatever is on the agenda. Still, some of my favorite activities are just out, such as wilderness backpacking.
My ability to maintain as well as I do is thanks largely to my sister. These diseases are caused by a rare combination of genetics, which plays heavily into the neurologist's certainty of my diagnosis. My sister suffers not only from
Carnitine Palmityl Tranferase Deficiency but also from one of the earliest diagnosed cases of
Phosphorylase b Kinase Deficiency – I believe actually number 15 or so confirmed in the United States. There are thousands now. I benefited from the knowledge she gained through trial and error, and years of barely functioning. From what I have found, the doctors who are experts don’t really know much more about it than she does after her years of research, and most don’t know nearly as much as she does about what to do to maintain your life if you have this condition. Thank you, Jennifer, for helping me through.
Read this again and imagine that your “vehicle” has a problem. My hope is that you’ll begin to understand, and you won’t be one of those people who make it shitty for those of us with invisible metabolic disorders. I don’t speak about my condition often, or to many people. If you know me but didn’t know of my disease, you might be stunned now. That’s because my Tahoe still looks fairly new, despite all its problems.
