u/PinataofPathology

My college aged rare disease kiddo was at a med school workshop conference thing and won the trivia competition one point shy of a perfect score.

When she first started to have health issues I sent her to A&P, biochem, and pathophysiology classes telling her you gotta know science to survive rare disease, it's the only way I've ever been able to access care.

We are that flavor of rare disease where it's not quick or inherently terminal. No, we linger, we fester, we accrue damage across time that compounds. We have to hustle or the system will let the disease eat us alive.

So anyway it turns out she's way smarter than me, and thinks she wants to go into medicine.

When the framework truly incorporates rare disease, you excel. Imagine if we could do that at scale?

(Also how do we add a rare disease win flair for the sub?)

Caught short yet again by the perception that rare means never when in reality ignoring it just leaves your rear flank completely exposed.

(I get the perceived resource constraints but those are largely based on how invisible the costs of rare disease are to the system. When you run the numbers it turns out it's ridiculously expensive to have patients (and bugs) freestyle their way through our populations and medical systems. Rare can't be safely ignored.)

This is super cool. Revisiting vitamin biochemistry to look for rare disease treatments.

I know for me vitamins and supplements can often be medicinal. Has it been like that for anyone else?

I think the challenge is that whatever is driving my biochemistry is as yet unknowable. So we're still missing the map for people who would benefit from something like this. I've done a lot of trial and error on my own just trying to solve the problem for myself and in fact I did use the Krebs cycle at one point to figure out a supplement to try. That actually worked too.

I've never had any kind of support from medicine on stuff like this. It's just blank looks. I don't bring it up anymore because the last thing I need is something that stigmatizes me further.

Medicine in the future where they're factoring in your biochemistry, genetics, pollutant load, nutrition and vitamins on top of medications and other treatments will be pretty cool-- ai has the bandwidth to do meaningful data analysis. P​robably won't happen during my natural lifespan tho and man, is that pissing me off right now lol.

https://scitechdaily.com/a-simple-vitamin-may-hold-the-key-to-treating-rare-genetic-diseases/

Or is it just me thinking this? Do I need to go sit in the corner and sing 🎵🎶aaaaaaall byyyy myyyyyself 🎶🎵?

Register here: https://undiagnosed.hms.harvard.edu/events/course/

Determine appropriate methods for clinical evaluation and phenotyping of patients with undiagnosed conditions.

Apply or refer patients to specialists for advanced analysis of sequencing data.

Identify strategies for incorporating basic research into the diagnostic process or introducing appropriate research for patients.

Recognize how patient engagement can be leveraged to improve rare disease diagnosis.

(It looks like access to last year's session is linked at the bottom of the page if you want to watch that fyi.)

The UDN has a free virtual event today for Undiagnosed Disease Day 4/29.

"Our program will include sessions on: the impact of living undiagnosed, advancing patient-driven discovery and innovation in rare and ultra-rare diseases, and how belonging with the UDNF does not require a diagnosis."

Register here: https://givebutter.com/undiagnosedday