Rare Disease Dystopia by the Numbers

 

They say 10% of Americans have rare disease. That's 30+ million people.

They say 72% of rare diseases are genetic. (Some sources say 80%.)

But hardly anyone gets referred to geneticists.

Almost no one gets genetic testing.

And there are less than 1300 geneticists in the US.

(Which, note it's going down, not up. In 2017 there were more than 1500. )

For whatever is 72% of 30+ million.

That's 10,000-15,000 patients per geneticist. 

So me and my kid, we are left to bounce through the system...specialist after specialist after specialist. Everything is treated piece meal. There's no unifying diagnosis and very little unified care despite peds' attempts to do so.

Because, ultimately, the resources to provide care don't exist.

By design.

There's no way (yet)  to quickly and credibly find a genetic issue...when that would be the most cost effective and time saving option. 

Imagine finding 72% of rare disease UP FRONT.

Where are the insurance companies on this? It's costing them a fortune to have all these appointments, tests, and treatments for my kid x two years now. And me x my whole life. This ass-backwards system is really expensive, and if rare disease is really 10% of people, that's a big expense on the bottom line. You don't want 10% of your cost centers bouncing chaotically through the medical system. 

 I'm guessing the vast majority of patients give up and that's where the costs are saved...just trapping patients in the bullshit of medicine to slow their roll. It's not like doctors are going to spot rare disease any time soon. The diagnostic delay has been stuck at a span of 5-30 years for what? Decades now?  The testing has improved, the diagnostic rate has not.

I'm accursedly fortunate in that I know this circus and I'm in a position to perform non-stop. That's what makes the difference for me and my kid.

Sometimes I wonder if I'll get to see anyone, literally anyone in the medical industrial complex, become aware of how they've been trained to ignore rare disease.

I wonder if we'll ever see an era where there's something like a zebra metric, which to my mind would work something like this...

If rare disease is ~10% of the population, then a physician or hospital should have a rare disease diagnosis rate of X% across all the patients they see.

(I can't give a specific percentage because there's some fancy math that needs to be done with the 10% to make a meaningful metric and I'm too dumb to do it. Also, likely lacking the data I'd need to do a good job with it anyway. But the point stands that there's a mathematical extrapolation that could be made here and math works even when we don't know the exact numbers. That's the whole point of X across all of math. Side bar to the side bar: What's interesting to me is that most medical math is used to exclude as opposed to include, there's an exclusion bias, not an inclusion one. Yet all that means is they miss people. We need more balanced math. But I digress.)

If a provider or institution is rarely finding rare disease ever...that should be flagged and then compared across the census of the other providers in the practice/other hospital systems to ensure there's no data anomaly--that somehow they just don't have those folks in the census, you can get weird distributions,  X% won't always spread out evenly--and if not, they should receive training to help them know when to suspect rare disease.

The training will take less than a minute. It is actually really that simple. Promise. 

Here it is:

Mission statement: A specific rare disease is rare, but diagnosis of rare disease in the aggregate should be common. There are lots of zebras in the herd, they just all have different stripes.

When the basic labs/imaging are normal, when the next level of labs/imaging are normal, the answer is NOT blame it on weight and depression, it's to go through all the levels of testing and imaging looking for rare disease. Especially if there are any objective markers of disease...fevers, abnormal labs etc... 

Core value: We do not give up on patients with objective abnormalities! Ever!

At some point, you need to consciously look for rare disease, not double down on ignoring its existence. Stop excluding, start including.

If you find nothing and the patient comes back worse at a later date, you repeat the workup (if enough time has passed since the last one) as patients can feel off long before things are clinically obvious.

In the lag between a clear clinical signal that reveals the diagnosis and the symptoms a patient struggles with, treat symptoms and continue to support the patient. Make sure patients know you're not giving up and are continuing to monitor their case. Refer as appropriate to other specialties.

Weight and mental health should be diagnoses of last resort, not first. Weight and mental health can be 'doesn't hurt to try' parallel therapeutic targets, but cannot be used to automatically exclude other issues unless a complete work up has been done, including ruling out rare disease. 

It's that simple.

Less than sixty seconds of reading and you can do a better job than all of the doctors we've ever worked with here. Even the nice, super smart ones. Even the ones at the world famous medical institutions. It's not the people, it's the training and the process, both of which are designed to deny access to science. Where people carry blame is in refusing to see that and act.

Here's a real life case I ran across where medicine failed to find the diagnosis, actually just gave up, refused to think...

Woman has abnormal lab values and lots of symptoms.

Lives in a major US city. Absolutely huge. Doctors everywhere. 

But she can't get diagnosed.

As things escalate, she goes to the ER where the abnormal lab values are dismissed as incidental temporary values and there's no recognition that they've been persisting for months and it's worse now. They fail to do anything, fail to actually synthesize the medical context, and she's discharged with no additional care. 

Fortunately, much like my liver tumors, any risk of death is slow moving so she has some time to keep looking for help.

Woman finally goes out of state to another hospital system. Even though she lives somewhere that should have the resources to diagnose her. The testing doesn't have super hard to find equipment.

And that hospital system finally runs the next level of tests and finds the problem. Tests than anyone could run. Anyone anywhere. But how many doctors refused to lift a finger and do it where she lived? A lot. To the point where she had to leave the state to find someone who would leverage the science on her behalf instead of fucking gatekeeping it.

This is why the core value of my spiffy little training is so important. 

Core value: We do not give up on patients with objective abnormalities! Ever!

Maybe with AI in the mix, insurance companies will find a way to penalize doctors who keep missing diagnoses like this. Maybe we can start mapping the diagnostic journey at scale and find the common bottlenecks and identify who perpetuates them. Maybe the whole system will see the light and realize this bullshit is costing them a fucking fortune, has a massive opportunity cost, and harms all of society.

I can dream...

PS: I'd also introduce a 'zebra screening' for psychiatry and psychology requiring providers to document and communicate with referring providers that they can't find a mental health cause of the symptoms. Like, actively give the case back to doctors, put it formally back on their plate as an impetus to push them to providing the next level of diagnostic workup. 

(As for the woman's diagnosis, it's not my story to share but ALSO the what isn't important, it's the malfunction of the medical system's architecture and flow through that matters. None of that should happen for any diagnosis. Yet the whole system glitches like this all. the. fucking. time.)