Rare Disease by the Textbook

I've been ordering old medical textbooks in an effort to understand how medicine approaches rare disease. To what end? I can't really say. On a more rational level, I suppose I'm hoping I find something that will be helpful and on the less rational level, I have a strong drive, almost an itch to solve the problem...when I know I'm so far outside the centers of power and authority and resources on this that I'm being dumb. 

But my inner Don Quixote is convinced this time I'll actually hit the windmill. 

So here are my takeaways thus far...

You know how 'they' say doctors don't get trained on things? Like, I knew that. I believed what I'd heard. But now I've seen it. I've witnessed it.

A 1500 page textbook used in medical school and my shit's not even in there. My kid's shit gets a one sentence 'beyond the scope of this text' dismissal.

I have a diagnostic framework type text for peds and that one has a decent schematic EXCEPT for a weird bifurcation where with the same lab results, we either get to the right diagnosis OR it's child abuse.

The diagnostic schematics are great at highlighting how doctors test and then give up if results are normal even though it's actually an indication of what direction to take next in trying to figure out what's wrong. The schematic knows to keep going, why don't doctors???

Google and Youtube are better. Way better. I don't know why we try to say it's not. And medical education needs a massive overhaul. Like, beyond massive.

Then I bounced around the internet for a bit. I looked at a lot of books, a lot of articles. There's some stuff that makes me chuckle...students clearly going for a pub credit by writing about Rare Disease knowledge among med students in tiny little nowhere countries. There's this book that's SO proud of having 1000 diseases covered when there are 7000 rare diseases. There are initiatives trying to connect patients with students to educate future care providers about rare disease but they are not well designed, poorly executed, and failing to thrive.

The books and the various rare disease orgs are doing it wrong I think. That's the conclusion I draw. I am looking for discussion of rare disease as an overall concept, but 99% of what's out there is about a specific disorder. We're using weak spotlights when we need a sun.

The way we approach rare disease on either the medical or patient side is too niche. Everything is siloed by diagnosis; the books, the education, the patient groups, organizations. There's no cross diagnosis summarization or schematic development going on. I found one mention of how there are commonalities across rare disease diagnostic work ups but no list of what they were. Supposedly there's training somewhere, but I couldn't find it.

Right now, it looks like the main focus is diagnosing the 70% of rare disease that's genetic. That's an AI, big data friendly investment opportunity. It's got money so it will happen. Which I'm all for low hanging fruit, but no one's talking about how we have no resources in the pipeline to treat all these patients nor what the plan is for the other 30%. Also, we can't actually afford to treat all the rare disease we can now easily diagnose. 

The cost to diagnose is deflating, the cost to treat is not.

All I can think is we really do need a rare disease specialty. We're going to need doctors who want to steer the ship for patients, but everyone is so hyperfocused on just figuring out the diagnosis part, they're not thinking about what's next in the schematic.

My rare disease training from my previous post still stands as best in class at this point. If there's still stuff on the schematic, you can't give up on the patient. Normal results don't rule out everything. If the patient wants to keep going, you have to keep going. And we don't give up on abnormal results, ever.

Thorough work-ups are how we start to make a dent in this. Yes, cost is an issue. That's a problem, but at least give patients the chance. At least allow them to access the science if they can swing the costs of it. Facilitate the diagnosis, don't block it.

Science belongs to everyone and people have a right to generate data that will optimize their outcomes.