Odds are good that at some point in your life you are going to experience some puzzling symptoms. Twisting intestinal pain that never goes completely away, dry mouth, a painful recurrent eye problem, or stabbing back and neck pain that ranges from annoying to excruciating with no rhyme or reason. In most cases it will be misdiagnosed, perhaps for years, before you're finally driven to seek a specialist and the correct evaluation is made: a chronic autoimmune condition. If so you're not alone, millions of Americans deal with these disorders. Thanks to a full blown, classic case of Ankylosing spondylitis, I'm one of them.
Most layman might imagine the brain and central nervous system are the most complex and least understood networks in the human body. But our immune system gives neurophysiology a run for its money. Actually, it's more like immune systems, since there are so many interlocking, overlapping, and at times even conflicting components. Some immune cells are like the blob, they engulf and digest their prey. Others simply stick to invaders like velcro and wrap them up tighter than a mummy. Others sniff around and chemically paint a suspect so that its buddies can glide in on that beacon like laser guided bombs into an enemy bunker. In complex animals like humans, there are even parts of our immune system that have grown so sophisticated they can rewire themselves on the fly. Once they're exposed to a particular germ, assuming they successfully fight it off, they 'remember' that bug and are forever on guard for it.
An autoimmune disorder occurs when one or more components in that vast array gets a little trigger happy and starts going after healthy tissue instead of dangerous microbes or diseased cells. That can happen easier than you might think, and the culprit is good ole evolution.
All kinds of white blood cells and antibodies are ready to lay down their tiny lives for you at the first sign or marauding microbes or misbehaving cells. To do that effectively, they have to be able to distinguish between good cells and bad cells. If they're too easy going, the bad cells might get an upper hand and suddenly you're sick as a dog. If they're too overzealous, they attack good cells and you have an autoimmune disease. So naturally, any enterprising bad guy has a powerful advantage if it can disguise itself as one of the good guys. Viruses and bacteria that can get past some portion of the immune system in this way are more likely to succeed and leave descendants. But the real masters of disguise are malignant (Cancer) cells: they completely fake out the bodies defenses with chemical disguises that tell the immune cells "Nothing here but us healthy cells doing our job, move along," while deep inside they've gone into business for themselves replicating like mad, co-opting, invading, and eventually devouring nearby tissue and organs. There are constant evolutionary skirmishes going on between immune components and bad guys looking to fake them out. The immune system forever walks a fine line between ineffective and overactive.
When humans abandoned hunter gatherer societies and began living in horrifically unsanitary conditions in close quarters with hordes or other people and domesticated animals, those skirmishes turned into a full fledged war. Suddenly it paid and paid well to have an overactive immune system that shoots first and never asks questions. It might mean that the incidence of other problems caused by enhanced immune components in that population increases dramatically, but as long as some members live long enough to reproduce, in the face of endemic diseases, that trait will become ubiquitous in the population over time.
We all descend from those survivors. Diseases that would have torn through a stone age tribe like a tornado don't even give us the sniffles. The price? Sickle cell anemia for one, and possibly higher numbers of peole suffering lupus, irritable bowel syndrome, and a host of other hard won adaptations that can misfire and cause serious problems, any one of which a research physician could study for a lifetime.
The good news is the outlook for patients has never been better. Moderate symptoms usually respond well to simple aspirin or ibuprofen. As the disease progresses, cortical steroids and narcotic painkillers are effective. In severe cases, immuno-suppressants like Cyclosporin can quell the immune system. In the last decade, a number of new drugs from the family of biologics have been developed that have proven extremely useful. It happens that many of these new drugs are made by biotech companies like Genentech. Scientifically, Genentech has a hell of an interesting science story behind it. Legislatively, that would be the same Genentech that sent an army of Borg lobbyists into DC to assimilate the HCR bill and enslave it in service to their own insatiably greedy corporate culture. Congressional resistance is apparently futile or non existent.
Which brings me back to my own condition. It happens that in AS, there's a genetic precursor called HLA-B27. Over 90% of those suffering from AS are positive for the gene. It's just one small example of numerous disorders with a big genetic component -- some of which can be lethal -- and more are being discovered all the time. I have the AS gene and symptoms, mystery solved, biologic treatment started.
That brings up an interesting point: in a sane world, babies would be checked for all those genes from the moment they come wiggling out of the womb. And parents, teachers, and PCPs would take the necessary precautions and be on the lookout for symptoms, so that any autoimmune or other diseases could be controlled before they flare into a gruesome, bone eating, organ destroying, lifetime orgy of agonizing pain. But in our crazy-ass healthcare system, that's a risk. Because, if a health insurance company finds out that you knew your kid has a genetic marker for a costly disorder, that policy might be null and void on everything they can tie that preexisting condition to, which in the case of some autoimmune diseases and with the judicious assistance of talented lawyers happens to include just about everything you can think of and then some.