I happened to be lucky when it comes to the doctor who treats my cold agglutinin disease (CAD). My hematologist had just started at the practice when I arrived for treatment. Knowledgeable about CAD, he had 3 patients like me. Our ages vary, 2 of us are primary, while the third is secondary. This disease is rare, which positions us to learn together. 

My doctor shares new treatments and ideas, which I find comforting. And he doesn’t force any treatment ideas on me. As a hematologist, he learned about many orphan diseases related to blood and cancer in his medical training. It makes me ask the question, why don’t most general practitioners know what he knows? 

I never dreamed I would be dealing with a rare disease but here I am. It leaves me with more questions than answers. My inability to identify the symptoms I experienced for years, and seeing an endless parade of doctors with my myriad symptoms was frustrating, to say the least. Oddly, my symptoms would come and go, which also added to my non-diagnosis. 

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Once I was diagnosed, I needed to know why my doctor was not able to figure this out. What I discovered was concerning, unless specialists are not required to learn about rare diseases in medical school. It may be touched upon, but their training, as far as I can tell, never delves deep enough to recognize the identifiers of rare diseases. 

How could this be? I found an article that describes how physicians and medical students are taught to look for common diseases before hunting for “zebras.” This makes sense at first read until you realize that rare diseases are more common than most would think. I also realize that patients may typically have a vast array of symptoms, as I did, making it much harder to diagnose. Yet, if you were to analyze those symptoms together and keep looking when a simple explanation doesn’t fit, we could stop wasting time and money, going from one doctor to the next.

Updating the curriculum to make it a requirement to study rare diseases would probably be a costly monumental task but I do hope one day they will make those changes. 

Read more about how CAD is diagnosed

There may be a simpler way to identify issues while we wait for the medical schools to catch up. Since practices now offer an online patient chart of some form, perhaps practices could have medical audits of patient records. I realize HIPPA laws could hinder this but aren’t medical staff required to be HIPPA compliant anyway? These audits would allow a bird’s eye view of a patient’s history to make sure the original diagnosis is correct, or in my case, diagnosing my disease sooner. 

Since so many doctors are not familiar with CAD, I have found that many of the patients I have gotten to know, live all over the world. I happen to be lucky because my doctor is down the road, but this is not always the case. Unfortunately, the issue is not just in the US; many CAD patients overseas also struggle to find knowledgeable doctors. 

Moreover, they struggle to find qualified doctors who are nearby and accessible. This is a huge problem for rare disease patients. If a treating doctor is not local, it requires you to travel long distances, and in some cases, may necessitate air and hotel expenses.

When a disease is sprung on you, you are not prepared mentally and maybe not even financially. With so many people living paycheck to paycheck they may not be able to afford to get the care they need, not to mention those without insurance. 

However, if your primary physician had been trained to look for “zebras” and identify rare disease indicators, then patients can be treated locally and sooner.