It seems almost impossible in this day and age, but sometimes the reason a patient goes undiagnosed for an extended length of time is because no name has ever been given to whatever their medical problem is. This can be very frustrating! Some patients spend years in search of a name that just doesn't exist.
To understand how this happens, we'll first define the difference between a symptom and a diagnosis.
A symptom is a description of the patient's experience. For example, a symptom might be a headache, or a sore throat, or paralysis, or dementia. In most cases, symptoms are the ways the body reacts to disease, and any specific symptom might actually be an indicator of many diseases or conditions. If your symptom is an achy knee, it could indicate many diseases, ranging from arthritis to cancer.
A disease is a cluster of symptoms that when grouped together consistently in many people, form one malady -- a disease or condition. That malady may have a name -- or it may not.
If you are undiagnosed, then you can probably make a clear list of your symptoms, either because you experience them (as you do with pain) or because a test (imaging, blood or others) has revealed them. But if no doctor has made that leap from your group of symptoms to a named disease or condition, you are frustrated.
And why does it seem important? Because you believe that if someone can name your medical problem as one disease or condition, then it will determine the treatment and the cure you seek, too.
Unfortunately, that may not be the case.
Consider Alzheimer's Disease:
Of course, the most visible symptom of Alzheimer's disease is dementia -- the forgetfulness that most of us associate with elderly people. Dementia as a symptom was identified centuries ago in the elderly by ancient Greeks and Romans. Then, in the early 1900s, a German doctor named Alois Alzheimer identified dementia in a woman who was only 50 years old. He described additional symptoms that accompanied her dementia, too. Over the next several years, other doctors came forward describing those same clustered symptoms, and began calling that group of symptoms "Alzheimer disease." Finally, beginning in 1977, the symptoms were described and grouped for people regardless of their age, leading to the current diagnosis of Alzheimer's disease.
Today, Alzheimer's disease is diagnosed based on a number of criteria, not just dementia. In fact, dementia is a symptom of several different diseases, and as our population ages, and human beings live longer, even more of us are developing dementia. But not everyone who has dementia has Alzheimer's disease.
Of course, until there was a name for the disease, and enough people (worldwide) were diagnosed with that disease, little or no research took place to develop an effective treatment, much less a cure. Today, research is taking place to determine the cause of the disease. Some probable culprits have been determined (plaques and tangles.) There have been a number of drugs developed to alleviate the symptoms of Alzheimer's, and to help patients retain their memory longer.
My grandmother, who died in 1977, had dementia. In those days, it was simply described as another symptom -- hardening of the arteries. There was no treatment, no cure. We just loved her and took care of her, knowing the inevitable would happen. About five years passed between our realization that she had become forgetful and her death.
Twenty years later, in the late 1990s, my mother was diagnosed with Alzheimer's disease. Medical science had progressed to the point where her experience with the disease had been fairly well-defined, and even in the early 2000s, some drugs had been developed to help her somewhat retain her memory. But her disease progressed, and we loved her and took care of her, as we had my grandmother. The biggest difference was that about 11 years passed from our early realization that she was forgetful until Mom passed away.
Why Understanding Alzheimer's Disease Helps Patients Who Are Undiagnosed
The difference between my grandmother's experience and my mother's experience was that my mother had a name for her disease -- she had a diagnosis of Alzheimer's disease. But there was almost no difference between my grandmother's experience with her disease, and my mother's experience with her disease, except that my mother lived a few years longer from when we first noticed her forgetfulness.
The one thing the name "Alzheimer's disease" did was to open the door to research, and perhaps someday to a possible cure for patients of the future. But Mom's actual experience with the disease was only some symptom relief -- the drugs developed to postpone the effects of dementia simply made her descent into total dementia, and ultimately her death, last longer.
So how does this help you if you are undiagnosed? It is an illustration that just because you have a name for your medical condition does not mean you will necessarily find a cure or even an effective treatment.
Yes - new names are given to diagnoses every day, just as Alzheimer's was finally named. But for every named medical problem that exists, there may be ten other names that do not.
Some patients become so driven, so focused on finding that exact name, that it interferes with their quality of life.
That doesn't mean you should stop trying to find a name or an effective treatment. It is simply the suggestion that you may be pursuing a medical unicorn, and that if your pursuit begins to interfere with the quality of your life, you may want to pursue treating your symptoms instead. That is a discussion you'll need to have with your doctor -- the second or third or fourth opinion doctor -- the one you trust above the others who at least helped you hone in on the fact that you have unusual symptoms that may not have a name.
By all means, do what you can to get the diagnosis you need, but know that it may not be possible, and don't let the pursuit itself interfere with your quality of life.