When is a diagnosis not a diagnosis?
When there is a mass medical backlash against the diagnosing of a syndrome or disease.
Rare disease and undiagnosed patients often face an unfortunate pattern of events that is created not only by psychological factors like Uncertainty Aversion, but also by systemic failures of the medical system, and faulty patterns in the instruction of medical students.
I will write more about that at later date, but for now it is worth exploring the pattern that undiagnosed and rare disease patients face.
There are generally two phases of rare diseases – pre-advocacy campaigns and post-advocacy — but they result in the same end.
- Pre-Awareness Campaigns – if a patient suspects that they meet the diagnostic criteria, or asks for further assessment, they are met with
“Nobody has that”
“I’ve never heard of that — stay off of Google”
“Even if you have it, nobody knows how to treat it”
“Even if you have it, I don’t know where to refer you to”
“Again — that’s really rare. nobody has that. stay off of Google” - Post-Awareness Campaigns:
“Everybody thinks they have that but nobody does”
“It’s just a fad”
“Even if you have it there’s nothing anybody could do about it”
“Stay off the internet”
“You’re welcome to find someone else who will look into it, but I don’t know who that would be”
“Even if you have that it has nothing to do with your symptoms, which just caused by stress.”
“Even if you have it, it won’t make a difference in how I’m treating you”
“You seem weirdly concerned with this, have you tried counseling”
In my own personal health journey, I was recently diagnosed with hypermobile Ehlers-Danlos Syndrome. 10 years ago, I would have counted it as a great win and would have had a lot of hope that it would lead to further treatment options and a better understanding of my symptoms.
Now I know better.
Hypermobile Ehlers-Danlos Syndrome is currently experiencing this giant wave of backlash (see: Doctor Faces Backlash After Claiming Four Chronic Illnesses Are Overdiagnosed — Pain News Network and many other examples).
It is a backlash I am familiar with, as it is the same situation that Mast Cell Disease faced 10 years ago. I was diagnosed with MCAS right before the advocacy and awareness campaigns really took off, and what I thought was a plausible explanation for why I break out in hives when I eat foods I’m not “allergic” to turned into a quagmire of epic proportions.
Doctors who didn’t have anything to do with my MCAS symptoms saw it on my chart and granted me a 10 minute lecture on how “it’s not a thing” and “everyone thinks they have it”, never got around to treating the issue I was there to see them for, and charged me $50 for the privelidge.
The irony is that the entire point of pursuing that diagnosis is that it was well-known to be associated with hEDS, so the patient advocate I was working with saw it as a stepping stone to the next diagnosis which would eventually allow me access to more and better treatment options.
But because of the backlash, it became impossible to walk into an office and say “a medical doctor at Emory diagnosed me with this based on the official diagnostic criteria, could you please evaluate me for the conditions which are associated with it”
FACTS:
1 in 10 people have a rare disease
According to Rare Disease Facts and Statistics | NORD
Doctors see between 80 and 120 Patients per week
How Many Patients Do Physicians See a Week? – Advance Study
Thus, any random doctor might see between 8 and 12 rare disease patients per week. (Obviously, this could vary based on specialty and type of practice.)
But the point is — Rare isn’t actually Rare.
Rare disease is wildly under-diagnosed because few doctors take the time to investigate it. It is wildly under-diagnosed because the “typical” symptoms are skewed towards groups that have the means and ability to seek out a diagnosis and participate in medical trials (ie: if there are skin symptoms that are different based on different skin types)
The point is that “Rare” isn’t nearly as rare as doctors believe. Most doctors seem to think they will only see a handful of outlier patients a year, and my point is that it is quite possible they should be seeing that many a week.
Zebras do exist. Look for “horses” first, sure. But once you rule out a horse, pretending that zebras are imaginary is, frankly, ridiculous.