We need a healthcare system that explicitly allows for two other specialty tiers that (at least in the US) informally exist:
1) the specialist internist (a PCP for specific diagnoses and complex cases that a “generalist internist” cannot possibly handle well)
2) Super specialist specialists. The handful of -its who exclusively see patients with the same diagnoses, like my neurosurgeon.
He was able to diagnose in 24 hours what 30+ MDs had failed to see. Because for him the “weird” and “rare” is what he says five times a day. If you have one of the handful of conditions he specializes in, he can save you a decade or more of frustration.
A big part of why medicine failed me (and so many others) is that my PCP and neurologist assumed that if the answers existed, they had them, knew them, were taught them. It’s only in retrospect that I realize my neurologist was ALSO a generalist.
Cases like mine—severe, complex—should be escalated to a class of internists skilled in diagnosing and managing complex cases, and working with networks of highly specialized -ists for those conditions.
There is truth to the idea that medicine has become too specialized. But I also think there are domains where medicine is not nearly specialized enough—particularly “rare,” emerging, or rarely diagnosed conditions.
Where there is no clear-cut standard of care (yet). The only way to learn/get good is to see the same type of patients over and over again until the weird/idiosyncratic becomes run-of-the-mill, a recognizable pattern.
The Mayo Clinic is NOT IT. And it keeps proving that it is not it, over and over and over again...
More than anything, we need to create stronger incentives for people who love offroading, taking the hardest possible paths, and innovating to enter medicine. I don’t know where those folks are now, but they are not where the hardest problems are.
That’s not exactly true...I think our problems are actually fairly simple in concrete reality. Our main problems are conceptual/paradigmatic.
I wish someone would give me the keys to $20 million.
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Vlad hits the nail on the head here. A lot of it is being generated by discussions on @s4me_info, a UK patient forum. I do my best to keep my mouth shut, but this has all been unbelievably painful and has taken a major toll on my mental health.
I know most forum members don’t engage in this discussion and may not even be aware of the running commentary about me and everything I say, but I am shocked that it is tolerated. (Anyone with a differing POV has long retreated, been put on moderation, or banned.)
I try to do my best to ignore it, but people point things out to me from time to time, thinking they are being helpful.
I am so angry. So much of Jenny’s case should / could have been caught when she was a child or teen, before she ”got sick.” It would not be hard to get this right. We do not need some miraculous feat of science to put into practice what we already know to be true.
Any ME org that is not joining forces with other organizations to educate the ME community on #EDS and #MCAS, that is not talking about comorbidities, is failing patients. I count @MEActNet in that boat. We have got to do better.
Jenny was diagnosed with ME when she fell ill at university, but she was born with #vEDS, which has a genetic marker. She had obvious phenotypical signs, but they were all missed.
Separately, I’m trying to work on a Medium post re: my concerns about people pursuing neurosurgery. My basic position is diagnosis for all, surgery for a few and only after 6-24 months of intense self-education, seeking multiple opinions, and exhausting nonsurgical options.
(Unless your doctor deems your case medically urgent, which is rare.) I am similarly having a hard time writing this piece as it quickly becomes an overly long, overly technical treatise. This topic is so nuanced and complicated, with many unknowns.
So if you have any questions about surgery...please do ask them. It might help me figure out how to frame and focus the piece!
So #thankful to have spent the last many days wandering a deserted island, doing what I haven’t been able to do in a good decade.
I am #thankful for my body, which is fragile but resilient. This year, I spent six months mostly bedbound following #COVID19. In the aftermath, I found myself almost as weak as I was after my neurosurgeries. COVID also worsened my #MCAS to a terrifying degree.
In September, I began a (second? third?) long climb of physical therapy and strength training so that I could stand and walk again.
“Just listen to your patient, he is telling you the diagnosis.“ — William Osler
My problem: I was a novel, when all my doctor really wanted or had time for was a tweet.
That is the reason I have been ill for the better part of a decade. It was all there: diagnosable, treatable, actionable. I simply had too many things wrong with me at once. I was, in a sense, too sick for medicine.
I think I may have stumbled upon my final, outstanding diagnosis, the rare thing that could explain all the dangling symptoms that my other “rare” diagnoses cannot. I’ll never be able to prove it (unless, perhaps, I have another acute episode).
Acetylcholine receptor autoantibodies have been found in subsets of #MECFS and #POTS patients. This can impair autonomic nervous system function and mast cell regulation. What I did not know is that these autoantibodies can also impair collagen synthesis.🤯
Is it possible that a subset of patients have an acquired, autoimmune connective tissue disorder? Could this help explain observations of: herpesvirus reactivation, dysautonomia, MCAS, and elevated hydroxyproline/lysine in a subset of #MECFS patients, w/ w/o hypermobility?