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Great article. PANDAS (Pediatric Autoimmune Neuropsychiatric Disorders Associated with Streptococcal Infections) and similar disorders such as MCAS (Mast Cell Activation Syndrome) are terrifying for parents and children. Too many doctors don't know about them.
Treatment is often an uphill battle, even to get well-understood drugs such as well-known antibiotics (such as cefprozil) and mast cell stabilizers (such as cromolyn). Many doctors refuse to try these, and many insurance companies refuse to cover them for off-book use.
In my opinion, the best solution is called "Test Of Treatment" (TOT). It means try a variety of things, and see what works. Test Of Treatment can happen after the usual treatments are tried and fail. Test Of Treatment can use generally-safe generally-reversible treatments, much like exploratory probes, to discover what's wrong and what can help.
It seems like as a culture we have a lot of weird baggage around dealing with doctors. It makes me wonder if it has something to do with our fear of our own mortality and unwillingness to talk about death or something.
I remember my classmates who went on to med school and became doctors. They were bright, but I don't remember their being extraordinarily so. Their classwork mostly seemed to involve a lot of memorization of facts, following rules and procedures, not so much thinking creatively or solving problems.
But now that they have MD after their names, we expect them to be familiar with a thousand different kinds of possible nuance? While operating in a system that only gives them 15 minutes per patient to hear what's going on and come up with a plan?
It almost seems unreasonable and unfair of us, but they expect that of us too. If we dare to question their assessment (again, after 15 minutes with the patient), we're "questioning their authority," even if we're advanced degree holders ourselves, and a stay-at-home parent who has spent nearly every waking moment with the patient or reading about research relevant to the patient's symptoms.
I know for every one medical research journalist like the author of the article, there are 10,000 exhausted working single parents armed with Doctor Google and a story about Kim from Accounting's niece's best friend's little brother who had a similar symptom one time, but it really seems like there should be a way to communicate when there really is something unusual going on.
Maybe it needs to be like customer support, where there isn't just one tier of doctor. Maybe there should be a system to filter actual complex cases up layers of specialty. But the customer support experience normally sucks, so maybe the model just doesn't work. I don't know.
There just has to be something that could make it better than this.
From my point of view, the GP -> Specialist pathway is already the "Customer Support" model. The GPs seem to be rote symptoms&statistics memorisers who can't actually reason about the human body the way old school doctors used to. If anyone is ripe for computers to take their jobs it's them.
I would love to see Dr House, suffer his wit and actually get fucking help for once.
It's not enough tiers, though, because (at least in my experience and the sense I get from other people) the specialists still have only mastered the 20% of issues that account for 80% of cases.
I'd love to see two more Pareto levels, at least. Like, an "advanced practice specialist" could cover the next 4% of things to pick up 16% more of the cases. And maybe one last tier that covers 0.8% of things that account for 3.2% of cases.
Granted, this still leaves 75.2% of the entire list of bizarre possible things that could go wrong hard to diagnose and treat, and that will be hard for the 0.8% of patients where something insanely weird is happening, but with a bit of humility about what it's even possible for our scientific knowledge to cover about "all the possible things that could ever go wrong," and in recognition that we'll essentially always just be doing the best we can to help people and we may not be able to help everyone, those seem like decent target numbers to me.
> Maybe there should be a system to filter actual complex cases up layers of specialty
I mean, this is normally your GP referring you to a specialist, and 99% of the time that works. But when your specialist doesn't even know enough to know where to refer you next you end up in a weird space that is incredibly challenging to navigate. It would be good if there was an "expert diagnosticians" group that you could go to when even specialists are stumped. They could help navigate referrals to specialists, tests-of-treatment and enrollment in trials (which is a whole other minefield).
My first thought as I started reading was PANDAS. Had a (thankfully negative) brief episode where PANDAS was on the table for some health issues one of our children had. My initial reaction was, “Wait. Strep infections can cause mental health issues? WHAT?”.
Fortunately all doctors we went to see, including the primary pediatrician, were well acquainted with it and with the blood tests necessary to confirm it.
And everyone was willing to throw a strep test in if we asked. It’s non-invasive and easy to administer.
Can’t imagine going through this with non-compliant doctors.
These diseases that exist outside the regular medical system but nonetheless have tons of anecdotal evidence, I just don’t know how to think about em. This, long covid, chronic Lyme. It’s hard for me to believe that these illnesses do have some effective treatment like antibiotics when clinical trials are somehow unable to establish the efficacy of treatment and there isn’t even a solid explanation for why they work.
I guess the scientist in me still says that it should just be coincidence, people get better on their own and it happens to line up with a new drug they try. On the other hand if I had an illness like this I’d totally try it.
It does seem that medicine has a problem recognizing illnesses which are difficult to measure and don’t have any viable treatment options, the system isn’t really set up to diagnose things like that.
The medical system has blindspots, and stigmas that extend even to well-documented diseases. I have EDS, which is a genetic disorder that causes loose connective tissue. One subtype (vascular EDS) is life-threatening, the others are merely painful and disabling. All but one subtype can be confirmed by gene sequencing, but the one that can't comprises the majority of cases. Most genetics departments reject all cases, except for vascular EDS. Rheumatologists usually own connective tissue disorders, but not this one because it's not autoimmune. There's no treatment other than PT and mobility aids.
It's a really bizarre situation because you can have a known-pathogenic COL5A1 mutation, dislocate your shoulders at will, and have a disorder so old that the ancient Greeks wrote about it, and still get belittled and gaslit (at worst) or passed off to a physiatrist who can prescribe you fancy splints and crutches (at best.) Largely (imo) because your disease isn't a good fit for any specialty.
Why do you think they haven't discovered better treatments? What is your ideal world for this disease?
Doctors are not able to conceive of patients as a system, because they lack the training and tools to do so.
This problem originates from science being systematic (step by step), not systemic (whole system). Both systemic and systematic approaches are required to understand reality [1].
So in an ideal world, we would have a science which looks from both the inside out perspective and the outside in. Right now - if a test doesn't measure it - it may as well not exist. That's an "inside-out" perspective.
Once the science is fixed, the medical establishment is next: medicine has become too complex for any one doctor to understand. Doctors need to work as a team, each performing a different role.
[1] "Systems Engineering: A systemic and systematic methodology for solving complex problems." Joseph Kasser, 2019. p. 17
> I can only imagine how frustrating it is for someone whose career is based on a single treatment to be faced with cases in which that treatment does not work. I could tell from the language she used, however, that in her mind, CBT does not fail her patients, but rather, some of her patients fail CBT.
This echoes my experience with CBT. [1] It turns out you can't treat autism or a brain injury with CBT as-is - but they don't screen for that.
> We mentioned that her right ear still glowed red and hot several times a day, which we found odd.
Recurring episodes of hot/red ears, especially after an initial trigger of infection, sounds a lot like relapsing polychondritis. But RP is already super rare so I have no idea what the potential intersection of RP and PANDAS looks like.
The doctors in this story are so arrogant, it blows my mind.