The Vicious Circle of Rare Disease Diagnosis

Warning: I need to rant a bit here.

When you have been diagnosed with a multitude of health conditions that includes Fibromyalgia Syndrome, as I have, you may find the need to dig deeper and see if there is a more reasonable diagnosis lurking behind the myriad symptoms - something that ties at least some of the symptoms together and makes more sense.

After being diagnosed with Fibro in February of 2008, I thought I would find some relief, thinking "okay, we know what this is, now we can treat it." Today, almost three years later, I'm not feeling much relief. Although having some diagnosis for all the things that seem to be malfunctioning in my body was at first comforting, I have realized some things.

Fibromyalgia is merely the name of a syndrome, which means it is merely a short way of naming a collection of symptoms that occur together. It isn't actually classified as a disease or condition. Saying one has Fibromyalgia is just a way of saying that a certain (long) list of non-fatal symptoms is occurring in the person's body. Having a doctor declare to me that I am experiencing a collection of symptoms is really not very helpful, really. Tell me something I didn't already know! There is no way to treat the core problem because the core problem is simply not yet known. Treatments currently focus on relieving whichever symptoms cause the most distress to the patient, and many are ineffective or only mildly helpful at best.

Many doctors tend to shy away from things they don't understand. The medical journals and conferences tell them what the official word is on how to diagnose and treat patients, and they tend to follow protocol. That's good much of the time, but sometimes this pattern is not very helpful to the patient. If it looks like a duck and sounds like a duck, it's probably not a horse, right? But when patients have symptoms that greatly affect the quality of their lives, they want a little more than standard protocol from their doctors. Why are we dealing with so many systemic problems? Why does the list of symptoms continue to grow despite our best efforts at improving them? Why does coping reasonably with these symptoms while still searching for real answers seem to spell "hypochondriac" to doctors who hear our best guesses for investigating conditions with similar symptoms and decide we aren't sick enough to pursue those tests?

Here's the thing. Once upon a time, all the health conditions that are known today were unidentified. Over the centuries, humans have observed and recorded health problems and treatments. When patterns emerged, conditions were named. As the collection of health conditions amassed, new, albeit rare, conditions began to be named and documented. You know the saying "there's a first time for everything" right? It's true for named health conditions, too. Every condition we know about today was once new... and rare.

We have always had a collection of rare health conditions. Only a very few of the patients seen have been diagnosed with these rare conditions. Some of them have become less rare as more was learned and diagnosing methods were narrowed down. Today, we still have a great many "rare" diseases and conditions out there. Statistically, very few people have been diagnosed with these conditions - but there are some out there.

So, when I ask a doctor to consider the possibility that I may have a certain health conditions and the reply is "no, it's not that; that's very rare," I propose that that reason for coming to a dead end on figuring me out is bullshit. Doctors: If you fail to test people for conditions, you will have contributed to the "rarity" of those conditions by reducing the statistics - the very reason you have provided to me for failing to pursue investigation of the possibility that such a condition could make sense of my problems.

Another reason I have been given was that if I had such a condition, I'd be much sicker than I am. Again, logic fails. Whatever happened to the great advice of getting diagnosed early for conditions, so it can be treated and possibly cured before it progresses to a point where nothing helps? If I'm "not sick enough" to be considered for a condition, does that mean that doctors don't want to diagnose early? Will they consider the condition if I wait until I suffer much more? Is this humane??

There are some diagnostic tests that cost a lot to do or require much more reasoning and thought and time to put together, and I suspect that these are the real obstacles I'm fighting. If this is the case, I'm thoroughly disgusted. I am trying to live my life as best as I can while dealing with at least a dozen symptoms at any given time. Meanwhile, I'm working to improve my quality of life and reduce the burdens on others by searching for meaningful reasons for my body's failings. I'm motivated to do the research, though my medical knowledge is greatly limited. I need the help of medical experts to find these answers, yet the true rarity in medicine today is a doctor who is actually willing to empathize and help me find those answers.

My plea to doctors is this. Don't dismiss my hypotheses with the rarity excuse and don't use cost or effort as a reason either. My body is breaking down and I need a better diagnosis than a syndrome. Cost and effort of investigation should not play a part in my health. I need more effective treatments and I want to know if defects in my DNA or blood or other body parts could be the missing link in what I'm experiencing. If you don't want to help me improve my health, I don't need you at all. If you don't know the answers, call on a colleague who might. Don't discard me. I'm a human being. I want to live well and I want others like me to live well. If you were the one in my place, would you approach things differently? Think about it.