My ex has mast cell activation syndrome. We would have to call for an ambulance 3-4 times a month because some days eating a grape could cause her to go into anaphylactic shock. She was allergic to whatever her body felt like at any given time.
She was misdiagnosed/undiagnosed for 18 years. I was baffled by this, and I myself have spent numerous hours down the rabbit hole of nootropics, and had a DNA test and was researching myself and how things work and how supplements affect your body and such for sometimes 12 hours a day. (Chronically unemployed, chronically ill.)
We got her a DNA test and I went to work researching everything and comparing the possibilities to her symptoms, we tried countless different supplements that could help... And eventually one did, it wasn't a cure but it was a relief she had never felt before. That was Quercetin, which is a mast cell stabilizer. It took about 2 years of research and trial and error to find some relief. We took our findings to the doctor and finally got a referral to an internal medicinist who promptly after hearing the symptoms and what has helped diagnosed her and she was out on a proper mast cell stabilizer. She went from being in bed 20 hours a day to being able to fully enjoy life. (Sadly, without me though!)
I just learned I have this as well (not as severe). Quercitin helped me. I am taking I think 1600mg (with bromelain) per day. How much was she taking, and what is the mast cell stabilizer that helped, if you don't mind my asking?
I've been dealing with my symptoms for 17 years this year and Quercitin + Zyrtec + Pepcid is the first thing that's made a dent in it. I started a few weeks ago and it's been amazing but I'm not experiencing full relief yet.
This was the combo Claude recommended I start with for a trial, one message after I told it my symptoms. No doctor has ever been able to help.
Not op but my wife has MCAS. The things that have helped the most are: Oral Cromolyn (helped sooo much with gi issues), and more recently she's started Ketotifen which is a systemic mast cell stabilizer that's seemed promising but is fairly new. She also tried Montelukast which was well tolerated but didn't make a ton of difference for her personally (but I know it helps a lot of people). Supplement wise DAO was the most useful for food truggers
I know someone with what we thought was MCAS, but it actually ended up being Alpha-gal Syndrome. Knowing that made the whole thing much easier to deal with.
I found H2 anti-histamines like Pepcid actually made my symptoms worse.
I was in a similar situation where Claude finally helped me make a breakthrough. It seems that my issue is entirely related to histamine levels.
* H1 (like Zyrtec) help block the body’s response to high histamines
* H2 (like Pepcid) actually worsen my symptoms overtime because my body was readjusting baseline
* Quercitin and DAO enzyme help massively.
Also being extremely mindful of histamine levels in food helps keep my baselines low. This can be tricky because histamines collect as food ages (so two batches of something can lead to different responses) and some “low histamine” foods can still trigger your body to dump histamines (so they actually act like high histamine foods).
I was on a similar path, but way less severe. I’ve become intolerant to eggs and chicken (and a bunch of other stuff) for some completely unknown reason. Over the course of the past 5 years, my overall health got progressively worse and worse.
I tried all sorts of different things, but couldn’t nail down a pattern for years. Even worse, some days I could tolerate something and others it would blow me up. It wasn’t until I started telling Claude literally everything I consumed and how I felt that it dialed into histamine response triggering mast cell activation.
I started to realize that a lot of “low histamine” foods either build up histamines as they age (so leftovers kill me) and some “low histamine” foods actually cause the body to naturally liberate histamine (essentially mimicking high histamine foods).
It’s extremely hard to get a diagnosis because the triggers are seemingly random and don’t always correlate with common buckets.
Ooh, thanks for this. I'm going to try quercetin for my histadine sensitivity in red wine, which causes a skin reaction. I thought it was the sulphites, but after trying older wines (which have fewer sulphites), it made it worse. So I've narrowed it down to histadines. The dilemma here is that wines tend to improve with age, but they contain more histadines.
The problem with being a "fixer" in relationships is if the other party is fixed, what they want changes, and often what they saw in the relationship isn't as relevant anymore. (to speculate from afar)
I will point our that most relationships end in separation. Maybe the reason for the breakup was in their story. Maybe they just stopped liking each other. We can't know without OP telling us.
Probably because life is not a fairy tale? I'll be heavily projecting here, but:
Health issues can be immensely stressful, and what is required to provide the best logistical and diagnostic support is very different from what is required to be a supportive partner and emotional caregiver. Doctors often fall into the trap of treating the disease and ignoring the patient, but at least that aligns with their job description. It is quite easy to do the same as a partner, and that is NOT the job. For certain personalities, it can often be a massive relief to disappear into searching the web and poring over medical research studies -- the key word there is "disappear". Plus, if someone is suffering physically, you can't really require them to have (what you think is) the "appropriate" amount of gratitude for what you're doing for them. (And physical suffering is always going to lead to mental suffering unless they're a 1000-year old enlightened monk.) You can be quite proud of your savior cred, and your partner can very reasonably tell you to shove that pride up your ass.
It's not about whether you're good enough or not. We all start with woefully naive views of how robust our relationships are. We get together as certain people at a certain time. Living together deepens and widens the basis for the relationship, and we'll all fool ourselves into thinking that nothing can break that apart. But fast forward a decade or two, and upend one or the other of your lives with a health challenge or some major life event, and you'll soon discover that you're in new ground and have to learn a bunch of brand new skills that you never needed before. And there's no particular reason why this person X who you bonded with years ago in environment Y is going to be easier to learn with than some random person off the street now that you're in environment not-Y with a different person X2 who evolved from person X -- just as you've evolved (or devolved) into Me2 from the Me you were. Especially not with the added challenge of a long history together of frictions and irritations that never mattered enough to tip things over the edge but do now in the new environment.
For the record, I'm still married to my X2 in my very-not-Y situation. For now. But I've seen enough that I would never look down on or even be surprised by the dissolution of even the strongest-seeming relationships when a novel challenge comes around.
Back to fairy tales -- Prince Charming's main claim to marriagability was his willingness to make out with a hot living corpse. Are you so sure your own claim is that much superior?
>"And there's no particular reason why this person X who you bonded with years ago in environment Y is going to be easier to learn with than some random person off the street now that you're in environment not-Y with a different person X2 who evolved from person X -- just as you've evolved (or devolved) into Me2 from the Me you were."
This is overly strong. X2 is likely similar to X and Me2 is similar to Me. X2 is certainly more likely to get along well with Me2 than a random, but far from guaranteed (which proves your point, but I wanted to rein in the pessimism)
Yes, that's fair, and you are right. I guess I was using hyperbole to contrast with the naive and common "I'm great at basketball so obviously I'll be really good at baseball" mentality. The skills are not unrelated, but success in one area does not guarantee success in another.
> Doctors often fall into the trap of treating the disease and ignoring the patient
My brother last year went to the doctor with an ear ache. The doctor prescribed him some liquids and pills. Only after he left he realised the doctor never even looked into his ear!
I'm pretty sure someone will accuse me of reading my own trauma into this, but AgentMasterRace mentions also being chronically ill. No mention of timing between Ex significantly imroving and deciding that they had "better options", but the sad reality of life is that many people you love, including friends, will never care for you the way you might care for them, and once they have "better options" will cast you aside, even if you're the reason they have those options in the first place.
Human relationships are brutal sometimes. I still choose to treat others the way I would want to be treated, and some people _actually_ reciprocate, and you eventually learn who is who in your life, but this requires that you be open to the fact the majority won't, and that you will sometimes feel betrayed and used. You just have to accept that it's your decision to make, and decide what kind of person you want to be.
Other commenters are also probably right to one extent or another, the dynamic of the relationship probably changed pretty dramatically and that can create problems regardless.
Anyway, poor old AgentMasterRace probably feels like a depressing episode has turned into something they'd rather it didn't. Sorry for pontificating over your traumatic(?) event with allusions to my own. If I'm reading the meaning of their username correctly though, I feel less bad about it, lol.
At the risk of sounding like a cryptobro ("What about using a blockchain?"), did you ever try testing LLMs to see if they'd be able to diagnose it correctly? (I'm guessing you did the research before LLMs)
Not OP but anecdotally: ChatGPT diagnosed my wife's MCAS, POTS/Dysautonomia and Ehlers Danlos Syndrome before any doctor did (not for lack of trying on the doctor front). Once we had that direction we found the right providers and it's made a world of difference
EDS and co are notorious for that; the symbol for various EDS organizations is a zebra, because doctors get patients with joint problems and think "arthritis, but they're a bit young, weird, oh well off to the rheumatologist" and before you know it you've seen various professionals and no diagnosis.
There's also HSD, which has a lot of overlap and may yet be a subtype of EDS, but the genetic marker hasn't been found yet. And when you get a patient with the full associated combo of symptoms [0], each of which only reveal themselves or become problematic over a long span of time (e.g. eye problems at young age, period problems / endometriosis as teenager/adult, neurodiverse conditions only diagnosed in 30's, severe joint problems and fatigue in late 30's, etc), few people will actually link them together as possibly having the same single cause.
But thanks to the internet, people with symptom X will find other people with symptom X and before you know it you have a group of people that are like "Hey, we all have symptom X, Y, Z, A, B and C, what gives?".
The last I knew, EDS and HSD are mutually exclusive. HSD is typically diagnosed because you have hypermobile joints, fatigue, brain fog, POTS, and other symptoms, but you lack the very specific genetic markers that hypermobile EDS requires.
The real problem is twofold. One is that EDS had historically been a diagnosis of exclusion, and a lot of the diagnostic tests were difficult. The second is that the disorders overwhelmingly affect women, and women tend to get ignored about chronic pain and fatigue.
90% of EDS sufferers have the Hypermobile variant, for which there is no genetic test. At least thats what I was told by an EDS specialist a few years ago.
It’s because for whatever reason a large number of doctors do not fundamentally believe some of these conditions exist (especially with syndromes with no clearly understood underlying cause).
I could not tell you the number of doctors who have rolled eyes at the mention of ehlers danlos and hypermobility disorders.
one of the really good things about these kinds of write ups and accounts of experiences and false leads is that I hope it feeds the LLMs with more context. For both me and my partner we've had problems with misdiagnosis that took a while to correct. My partner also suffered with auditory psychosis, and that was a super difficult (and bizarre) time. A little while ago I just started recording everything so I can use AI tools to validate medical advice and track symptoms, already it's caught things (semi minor things) that I've been able to address with my doctor. I would never suggest relying on AI tools, but certainly useful as a second opinion type thing as well as exploring possibilities.
I recently discovered openevidence.com, and it's apparently what many doctors have started using for diagnosing patients (with or without their consent). It could be worth looking into for trying to find an explanation of symptoms that might not have a clear diagnosis. It may also just be the new WebMD once it gains more popularity (or even already), but may be another tool in your arsenal all the same.
My wife has a cardiac autoimmune disease that was similarly misdiagnosed (including an appalling “it’s all in your head” from her family MD at the time). We underwent a year of immense stress. Just days before her probable death, she had a pacemaker and defibrillator installed, which saved her life.
I’m not entirely sure why I’m mentioning this, other than I sympathize deeply with your wife. What an absolute ordeal.
> including an appalling “it’s all in your head” from her family MD at the time
Oof. That one resonates so much for me - even living in a country with far better healthcare.
There's a term I dislike but is apt: medical misogyny. Basically it's, "systemic, conscious, or unconscious gender biases [which] affect how a patient is treated by the healthcare system."[1]
Systemic in particular is that basically the vast amount of knowledge amassed in the medical sciences has come from studying men. Comparatively little for those not assigned male at birth.
One of my kids has complicated health issues, pretty much from the time they hit puberty. If they hadn't had me (someone born with a penis) advocating for them and attending most medical appointments throughout their teenage years I'm pretty sure they would be dead now.
My most appalling memory is a gastroenterologist who patronisingly told my kid with a diagnosed anxiety disorder which exacerbated awful gut pain from irritable bowel syndrome that, "If you weren't anxious all the time you wouldn't be in so much pain." We both had a good cry in the car park after that appointment. It certainly set treatment of their IBS back a couple of years at least.
(Fortunately after a string of bad ones, we found a GE that treated them with compassion, and not as a gastrointestinal tract with an annoying human around it.)
Whew, yeah, touched a nerve there. So, medical misogyny. It's a thing.
> There's a term I dislike but is apt: medical misogyny. Basically it's, "systemic, conscious, or unconscious gender biases [which] affect how a patient is treated by the healthcare system."
This is a loaded UK-centric policy/humanities term and I would suggest using sex/gender disparities instead which does not imply animus and is therefore much more useful for productive discussion.
Implicit and systemic biases in medicine are very real and supported by ample data.
> Systemic in particular is that basically the vast amount of knowledge amassed in the medical sciences has come from studying men. Comparatively little for those not assigned male at birth.
At least for the US this hasn’t been the case in clinical research for the past 15 years or so which in aggregate leans a bit more female than male if anything. Some specific fields still have sex disparity in clinical research for a variety of reasons but that’s the minority these days.
> This is a loaded UK-centric policy/humanities term
Yes, the implication of animus is the chief reason for my dislike of the term. The main failing of most alternatives is they don't roll off the tongue as easily or succinctly.
> this hasn’t been the case in clinical research for the past 15 years or so which in aggregate leans a bit more female than male if anything.
Oh yes, I didn't mean to imply the situation isn't improving (and an overcorrection in research at this point in time is probably a good thing, IMO (if it is in fact happening, which I struggle to believe (but that's my issue))).
The body of knowledge in medical science is a lot older than 15 years though, so I would think it will take a lot of time and effort to equalise.
Thanks for your response. I found it constructive and informative to my own thinking.
I'm a man, and when I was a teenage boy I was tired. All the time. My feet had also shrunk and I lost some height. This all started after a bad concussion, though I'm not sure if he made the connection on that last point.
My doctor's diagnosis? Depression. Oh, and my foot arch must be getting higher.
My sister's best friend going up lost her dad because he was told that the pain from recent dental work couldn't be that bad and that he should just tough it out. The infection broke through into his brain and he died very quickly.
My dad almost died from lupus because doctors wouldn't test him for it because it primarily affects women.
Women, statistically, are more neurotic. I'm sure that affects how doctors diagnose them, and it shouldn't. However, I don't like things like what you're describing to be attributed to misogyny. It could be, but it also could just be that doctors focus way too much on horses when it could actually be a zebra. Hopefully LLMs will help with that - when GPT 3 or so came out way back when, one of the first things I did to test it was to give it what I knew about my condition at the time. It told me 3 tests I should have done, one of which was correct, and one of which I still haven't managed to get a doctor to give me after trying for many years.
If you blame it on misogyny the actual problem won't get fixed.
I'm not blaming it on misogyny. I thought I was very clear that "medical misogyny" is a commonly used term, and was very specific on the definition.
Also, in this sibling comment thread[1] to yours I discussed with haldujai why we both dislike the term, specifically because of the animus is implies, which is inaccurate.
It is however, a term you will hear in discussions like this, so it is good to know what it means, and the fact that the problem as defined exists, no matter what you call it.
As a Yank with practically every single demographic, physical, and financial advantage in his favor, I’ve been gaslit by about 8 of 10 specialists. Only car dealerships are worse.
Even obvious things like “I can’t move my left hand after 1 hr of light typing” were excruciating difficult to get diagnosed by “board certified” specialists with 20 years experience. It’s not that they were wrong —- they flat out weren’t even interested in making diagnosis nor conducting a simple test that could lead anywhere. Financial costs and insurance requirements weren’t the issue either.
“My chest hurts after walking slowly to the mailbox. ‘Well, you waited 1 month for this appointment, we’ll do an ultrasound in 2 months, discuss it 1 month later, and then maybe figure out next steps “
I cannot imagine a more dysfunctional aspect of modern society. The Department of Motor Vehicles is a paragon of efficiency by comparison.
Imagine if I told my boss the critical issue escalated by a major customer would be handled that same way…
There are a lot of bad software engineers but they tend to get weeded out since most are employees. Imagine paying them 2x-3x the amount with no direct managerial supervision and even more poorly informed customers. The name for this is “doctors”. The game is played by not trying to be great in medical practice - instead the strategy is only to be financially successful.
Agreed. Disability, physical as well as intellectual. Age. Neuroatypicallity. The list goes on.
Honestly, I think when you're facing any sort of potentially serious health issue you need a wingman coming to the appointments with you. Someone who can hopefully be a little more emotionally removed. Who can ask the questions you didn't think of to make sure you've covered everything. Who you can debrief with afterwards to make sure you've taken in all the important information you were just scrambling to wrap your head around while you were in the room. And sometimes to argue on your behalf.
Done this with my kidult for most of their life, obviously. Did it with my dad's oncologist visits for prostate cancer. Had it myself with cancer and other times. You just need someone you trust in your corner when you're vulnerable.
It's been super eye-opening to me as an adult how frequent misdiagnoses are. I understand it's good for a doctor to sound confident, but "confidently wrong" is imo much worse than "cautiously wrong". We really need better imaging/diagnostic tools that cut down on human bias; hoping for a star trek tricorder someday.
> It's been super eye-opening to me as an adult how frequent misdiagnoses are.
I was talking to a specialist in a field where a rare condition has started to trend on TikTok. It was also eye-opening to learn how much they're struggling under the weight of bad referrals for patients who don't have the condition they claim.
That's not to say they aren't sick. The patients are suffering from something. However between hours of TikTok and ChatGPT they can convince themselves they have a condition and learn how to convince their primary care doctor to put in the referral
This doesn't work as much for conditions that have objective criteria like blood tests, where it's easy to filter out the patients who have both negative blood tests and a PCP who hasn't tried to investigate other explanations.
An example of a popular self-diagnosis is MCAS: Mast Cell Activation Syndrome. MCAS specialists are overwhelmed by self-diagnosed patients trying to get appointments who have never even have a tryptase blood test. If you go on to any subreddit or forum for chronic health conditions you will find a large number of people there have been convinced they have MCAS, and new members are told they might have MCAS too.
This is creating a separate fatigue among providers who need to keep their guard up at all times so they can maintain focus on the patients who really have these conditions instead of letting their schedules get destroyed by patients who don't. It's a hard problem.
"This is creating a separate fatigue among providers who need to keep their guard up at all times so they can maintain focus on the patients who really have these conditions instead of letting their schedules get destroyed by patients who don't. It's a hard problem."
In your example of MCAS, the solutions seems simple, do a blood test first, before really involving the specialist?
It’s a little more difficult because the blood test is supposed to be performed during a flare up, so it can be negative in an MCAS case if given at the wrong time.
Primary care doctors don’t want to gate the diagnosis so they’ll send the referral over and hope that the specialist will do the work of filtering out the likely and unlikely cases.
The everything-is-MCAS people on the internet use the fact that it can be negative at times in MCAS patients as a wedge to justify ignoring negative test results. In practice it’s not that hard to give someone a standing order for the test and have them get the blood draw when their symptoms flare.
I know someone with what we thought was MCAS, but it actually ended up being Alpha-gal Syndrome. Knowing that made the whole thing much easier to deal with.
As someone who is currently going through the diagnostic process for MCAS with a specialist:
A negative Tryptase blood test doesn't mean you don't have it, it could just be that you're not having an active flare-up at the time. So they also prescribe high doses of H1 and H2 blockers and then you report whether symptoms have improved across 2 or more organ systems after a few weeks.
Not to be a capitalist about it, but given the US health care system, and the fact that there's a diagnostic test for it, that sounds like a business opportunity. Setup an intake website where the customer, err, patient, fills out their information, submits their insurance, and answers a questionnaire, and then the teledoc web portal system gives them lab work to do. Charge the patients for the privilege, and also charge the doctors to use this screening process.
> and also charge the doctors to use this screening process.
Why would a doctor pay another service to order labs for them?
Sadly there are a lot of clinics popping up to serve the internet self-diagnosers, but not in the way you're talking about. They're built around a single enterprising doctor who either believes the disease is undetectable by normal tests, or who is aware that they're stringing patients along but likes the money. If someone opens a specialty clinic for an internet-popular disorder, they have a perpetual line of patients who will gladly pay for a doctor to tell them what they want to hear.
I dunno, LifeBAC's a good example of something thats not really in line with what you mentioned but has good reason to exist given the typical relationship most people have with their drs
> Not to be a capitalist about it, but given the US health care system
Whats that supposed to mean? Most countries have private healthcare too. Sometimes it is as popular as public i.e. Australia 45% is private vs 55% in US.
In Australia, this is mostly because there are tax implications for not being a private health care member past the age of 31 when you earn over a certain amount. Our public system is great (and actually exists).
it's an attempt to starve funding from the public system. (Howard was responsible for destroying the first universal healthcare system in australia before the later second attempt)
The private hospitals specialise in elective uncomplicated day ops because the returns from the medicare payment are better than complicated cases that get the same fixed payment. It's also why they transfer anything slightly complicated into public hospitals.
Yeah, I've had to fight to get medication that the doc insisted "doesn't work" - had to cite actual studies that showed blatant results showing effectiveness. The way society has this widespread "appeal to authority" built in around doctors drives me crazy, because they are treated as if they are the ultimate authority on health/medical, but are often woefully under-educated about specific subtle details that can end up being critical to the management/prognosis of a health issue.
I have a worsened lifelong issue because of repeated sub-optimal "solutions" to a problem, such that the best long-term solution was found by the THIRD doctor that looked at my problem. "Solutions" from the first two guaranteed my problem will forever be worse than it would have been (solely due to their treatments), if only the third doc's solution had been considered/presented first. Even worse, I was a teenager and young adult when dealing with the first two. My mistake for not doing my own comprehensive research, apparently -- the thing we entrust doctors to do for us...
The part that doctors see that individuals don't is the flood of people who are chronically freaking out over nothing.
There are going to be casualties of doctor's triage, and those stories will be beyond upsetting, but most would agree its better than an 8 month wait to get an MRI.
Right. For every example of a doctor missing a diagnosis, there 100 examples of that doctor correctly telling people that they are likely suffering from a temporary condition that will work itself out or not be resolved by any further testing or medicine.
All the more reason to have better diagnostic tools (not to mention faster imaging)! All humans are fallible; I hope one day diagnosis is the easiest part of a doctor's job.
You’re assuming a diagnostic test can be designed for 100% accuracy and this is not possible as disease states are spectrums not discrete categories.
“Normal ranges” in lab values are just confidence intervals of population means which by definition that some normal people will have abnormal values and some patients with a disease will have normal values.
The same is true for imaging. For example we use size criteria a lot. There is nothing different about 4.1 cm adrenal nodules and 3.9 cm nodules to explain why the former gets surgery and the latter gets called benign other than pre-test probability and acceptable false positive and false negative rates, whether this is measured by a human or AI.
Eventually, diagnostic systems (whether AI or human+AI) will significantly outperform current human doctors.
If humans have different normal ranges, then the tests will be specific to the individual, based on their health history, DNA, tissue simulation in digital environment, etc. If adrenal nodules of similar diameter behave differently, then the tests will inspect more than just diameter.
The data to make the correct diagnosis is out there, we just don't have the tools or processing power to use it yet.
You’re loosely alluding to personalized medicine but envisioning is a very futuristic state we are very slowly moving towards. What you suggest is great but we are a few decades and several technological breakthroughs as well as new discoveries away from coming to what you are talking.
DNA is increasingly used in oncology, but is difficult to interpret elsewhere and in many tumors is not insightful.
> The data to make the correct diagnosis is out there, we just don't have the tools or processing power to use it yet.
Maybe, but we don’t know what or how to measure it.
> If adrenal nodules of similar diameter behave differently, then the tests will inspect more than just diameter.
Everything investigated so far such as: biopsies with histology, MR spectroscopy and measuring the diffusivity of water molecules has not been reliable in differentiating benign or malignant nodules so we still use size. These are nontrivial problems. There are technical limitations to our measuring tools.
I had a much more common autoimmune disease, adult-onset Type 1 Diabetes (LADA), determined to be health anxiety by a very large, major renowned hospital who should have known better. It led to over a year of continued illness before finally I was diagnosed at an ER. I'm sure some people have psychosomatic or anxiety based illnesses, but it's rather grating to be told by a psychologist that you're worrying yourself to death when you are very, very sure that's not the issue.
How did it take a year to diagnose diabetes? Are there symptoms of Type 1 that aren't downstream of blood sugar? I, some chucklefuck with some first aid experience, can figure out if someone is hypo/hyperglycemic by smell.
LADA comes on slowly compared to regular juvenile onset type 1. With regular T1, you'll be in diabetic ketoacidosis and hospitalized within 3 months. LADA can take a year or two, sometimes even longer. I had Celiac diagnosed a year prior, and many of the symptoms seemed the same - fatigue after meals, heartburn, other digestive issues - and that confused things. Plus I had terrible medical care for the first 6 months while I was losing weight and wondering what was happening.
Adult onset. It can come on slowly (as in over the course of a year). And many downstream symptoms include mood changes. Hard to know it is blood sugar related if you don't test blood sugar levels.
Really glad you can smell it on people, smell is a powerful diagnostic tool that few people are trained on.
That’s the bit I don’t get: isn’t glucose testing by the health care system fairly common with any sort of “I don’t know what’s going on, let’s order some labs and see what comes back” screening/testing panel?
I was told I had 'prediabetes' and actually got my own glucose testing kit. It didn't seem far off at that time, though, possibly because I was having such a difficult time eating anything. I didn't really know what to look for, though. Glucose being above 100 when I woke up? Over 180 a couple hours after eating? I tested a lot but didn't have any doctor support or interpretation.
At the hospital, I saw a gastroenterologist who specialized in Celiac, because I had just been diagnosed with Celiac a year earlier and many of my symptoms seemed related to digestion. He absolutely should have done diabetes tests. On the last day of the 2 weeks I was there, he said "It could be type 1 diabetes... some people get that too" but didn't order any tests. When I was diagnosed at the ER another year later, my glucose was 650 (very high) and had been averaging 300 (it should be ~85). So yeah, the doctors were negligent, in my assessment.
OP mentioned being told he was just worrying by a psychiatrist. They're used to seeing all sorts of psychosomatic issues caused by stress and anxiety. The old 'think horses not zebras' puts blinders on, especially when there's also claims that the US health system over-tests for things.
I told my gastro that I was on a very restricted diet. I had lost a ton of weight from not being able to swallow food and though it was related to Celiac or food allergies, and they really didn't listen to what I was saying. The psychologist told me that I was "so worried about gluten that I was starving myself", which was quite offensive, actually. I had been in phsyical pain every day for months and went from 180 lbs to 120 (at 5'10") until I found a liquid diet that worked for me and regained weight. I had no idea carbohydrates were an issue.
It's common to get a spot/random glucose test as part of a metabolic panel, but not that common to get an A1C or certainly auto-antibody tests, in my experience.
A1c has become a lot more common over the last 20 years… adoption of new standards can take a while in healthcare, even stuff that has existed for a while
Once you have psych. diagnosis its over, doctors see you throught that lens. Ah yes, he has anxiety, of course his symptoms are psychosomatic and there is no need for more testing.
My uncle was schizophrenic, medicated and living OK life after years and years of delusions. He also had untreated diabetes for years, but was on the right track.
He went to doctor with pain in belly, they sent him home and told him nothing is wrong, couple days after he died from ruptured gallbladder...
What I learned is also that often doctors will shrug at an unclear illness, and wait for it to become severe enough that it's obvious. Once I had 650 glucose and a A1C of 12, they couldn't say it was just a psych problem.
I honestly hate the US medical system for this. Basically you get scolded for not being proactive and ignoring symptoms, but if you are proactive and even slightly worried about something they treat you like a hypochondriac.
I practiced medicine in the U.S. and am now retired. This is such a complicated problem, not insoluble; and I would not want to explain away failures of the system.
I spent the majority of my career at a major tertiary referral center. One patient sent to me had all the signs and symptoms of Beçhet’s disease. To me it was obvious; but putting myself in the shoes of the rural primary care physician, who has never seen a case, I can imagine the constellation of presenting signs and symptoms would have been just a muddle. I can think of perhaps hundreds of similar cases.
I’m sure I missed important findings in my career. I know it. Much of what is missing nowadays is the time to listen deeply to what the patient is telling you and to think about it. If you have even rudimentary medical knowledge + time + humility and a willingness to constantly revisit the diagnosis, any doctor will do OK. But it’s a tall order in 2026. I’m grateful to have practiced at an institution that afforded me the time to listen and think. I gather that many physicians now are suffering from exhaustion of curiosity and maybe empathy.
This. Today, well-meaning doctors cannot spend more than 5-10 minutes between seeing patients. Medical shows on TV show teams of physicians working on one or two patients per week. The reality in my part of the world is that each doctor sees 10 or so patients each day, and are not available for phone calls. (Even in 2026 my parents can reach their doctors by phone, and they spend the time to chat. But they are in New York and I live in Florida. )
I have seen my current PC doctor for 25 years now and he knows me well enough to spot significant changes. But he's retiring in a few months and I have no idea how to find a new doctor. My current doctor has no recommendations for me. (I'm not asking here for any if that's what this sounds like.)
Ooof, really sorry to hear that. I'm glad she ultimately got the treatment she needed.
In my case, the misdiagnosis up front was entirely reasonable. (EDIT: Well, maybe not. See below.) The generalized anxiety disorder diagnosis from my PCP made a lot of sense given what was happening. I hadn't had delusions yet at that point. It was... a mixture of panic attacks, night sweats, jaw pain and a greatly increased level of anxiety compared to my baseline.
My PCP did run a bevy of tests (chest x-ray, and took tons of blood) to try and rule out anything biological.
Given what was known at the time, I think my PCP did the right thing. And when my symptoms really escalated (delusions, suicidal ideation, falling and hitting my head), my PCP suggested going to an ER. And that's what we did.
I think it was the ER that really dropped the ball. Given the sudden onset of everything, the fact that they didn't get me in front of a neurologist is, in retrospect, really quite baffling. That's when I went to a psychiatric hospital, where I spent 3 nights.
I only got out of that hospital due to total luck. My neighbor was old college buddies with a neurosurgeon. (We had no idea about it. It just came up randomly when my neighbor was dropping my son off at home for us.) That was the critical connection because he ended up talking to the neurology department at Brigham and Women's, then talked to the psychiatric hospital and was the one who facilitated my transfer.
My wife tried to do it on her own but they wouldn't allow it because I had been medically cleared. She had to give 3 days notice to pull me out. Or otherwise, by default, I would see a neurologist after 2 weeks. According to the psychiatric facility.
I really don't know if I would have made it that long. The encephalitis wouldn't have killed me in that span of time, but I was in an extremely dark place.
I'm also really lucky that this is an autoimmune disorder that has a pretty objective diagnostic criteria: a positive antibody test in your cerebral spinal fluid. You "just: need to have your spine tapped to get that though. Fun times.
Absolutely not to defend what happened but that GAD diagnosis sets in motion the anchoring, because now you have an “established” (and recent) psychiatric diagnosis and it’s all too common that an ED is going to heavily prioritize this as a progression. EDs are just very bad in general about reconsidering a differential for a (new) chronic condition unless it’s flashing like a neon sign, especially when there is an easy enough dispo to reach for, transfer to psych in this case. But even worse, you already had an extensive outpatient workup to hang their hat on. From the history provided the history of a fall is the only thing mentioned that sounded like a slam dunk brewing neurological deficit, and it is not very specific, half the ED are people that fell. I’m sure you’ve read the MDM portion of the ED note, it may or may not give some idea of why neurological conditions were dismissed.
Very unfortunate.
That is an interesting take that I hadn't thought of. Thank you for that perspective.
I actually haven't been able to get the ED notes from that first ER visit yet. They are in a different system than Brigham and Women's, which made it super easy to read notes in their app.
Hey sushi, we've chit chatted before but I'll stay anonymous here.
So you have had a life changing experience. I am really sorry for all the pain and fear this has caused you and your family. Iv ig is a miracle for autoimmune trainwrecks. It saved one of my loved ones lives too. I am so glad you are still here with us.
I know nothing about your recent reality. I can tell you this. Psychosis, immense fear, and near death experiences aren't something to brush off. Perhaps best not dwelled on, but I hope you either stay in therapy or begin therapy with someone who understands trauma. Not to discuss it as trauma, but to keep tabs.
You may be good to work! Good to be a kick ass dad! But if there are things you haven't dealt with here they may rear their head at a random inconvenient time down the road. Maybe you are all good, I bet you are. But please remember to take care of your mind.
Good they eventually found out... Falling doesn't feel like some psychiatric disorder: I know someone who fell because he threw himself out of the window and that was due to him being nuts. Now I'm not a doctor: maybe someone with psychiatric disorder can just fall out of crazyness but that just sounds weird.
I've heard so many stories, and have had so much recent close experience of those stories not ending on a high note. It's nice to hear that Burnt Sushi's and your wife's experience do sometimes end in a very positive way.
One thing that may be intriguing is that this is a relatively new diagnosis (first described in 2007).
There's so much medicine to discover and we need to keep supporting a biomedical research enterprise that can find reversible treatments to disorders that would otherwise be difficult to treat (his symptoms, for example, would be thought of as a schizophrenia manifestation in another era)
Yes, the biomedical world needs to go through the same boom that tech went through in the last 20 years.
The problem is accessibility. Tech grew largely because of how accessible the technology is. Biomedical research is still very difficult to get into, and as a result seriously curtails the potential progress we as a society could make.
I don't know what the solution is but there's got to be an easier way to tinker, test, explore, and play around with biomedical things (cells, viruses, etc.).
Ideally it would be a purely software world where we replicate everything down to the DNA level so that you can test and play around with potential solutions...
> Yes, the biomedical world needs to go through the same boom that tech went through in the last 20 years.
Why do you think that isn’t happening? So many comments here make broad claims about fields where the poster isn’t familiar. Being a programmer does not make one knowledgeable about other specialized fields
Biomedical research in the US has taken an absolute nose-dive several times over the past decade or two. This was my field for the past 20 years, so I'm fairly familiar.
It requires enormous capital investment and a very, very long time to turn out meaningful results, so it's only available to those with corporate-depth pockets or government subsidies. It also requires a broad and deep skill set.
With the FDA, USDA, NIH, CDC and DoEd all being gutted, the subsidies are gone. Academia can no longer support a huge swath of biomedical research.
I agree that being a programmer doesn't make you an expert at everything, but OP brought up a good point. Tech is a lot more accessible than other fields. It would be nice if I could pivot into other fields as easily as someone could pivot into tech.
Aside from going to college for many years, there's really no other way to break into the medical field. College is expensive and quite daunting to many (myself included), which is a shame because I'd really like to contribute more to humanity than moving pixels around on a screen and helping businesses with their data problems.
A big reason is clinical trials. They take time, they are expensive, and there isn’t another good way to determine an intervention’s safety and effectiveness.
> Yes, the biomedical world needs to go through the same boom that tech went through in the last 20 years
We are going through one right now, just not so visibly. Many forms of cancer that would have killed you quickly at the turn of the century are now controllable, if not treatable. Coming up with a safe and working vaccine for a novel virus just a year after it emerges would be unthinkable 20 years ago. HIV went from a nasty death sentence to something you take one pill a day to keep control of within my lifetime.
We just don't like to talk about it because we don't like to talk about death and life stuffs.
What is funny about this accessibility and regulation point of view is I remember around 2021 and 2022 there is a hive mind of tech people who were paranoid about all the novel virus research, "gain of function" shit and want to preemptively ban it all. The same people who decry any regulation imposed on tech. Go figure.
"the biomedical world needs to go through the same boom that tech went through in the last 20 years."
Not going to happen with all the regulation. Plus, I think half of us techies got into it for games and boobs (bypass parental controls). Not a lot of that same adolescent motivation in that field.
Yeah, but the culture surrounding computers now isn't the same as when whenever you grew up. The last few decades of tech didn't have ChatGPT to contend with. These days, going into medicine looks a lot more future proof than getting a CS degree.
What's happened in software / computing in the last 20 years that's good? Imo it could be argued that overall the user experience has gotten worse. Dead internet theory, enshittification.
* The web is pretty much dead. Time Berners Lee's ideals certainly are.
* Computing is dominated by completely evil megacorps.
* They are making a concerted effort to make people as tech-illiterate as possible and also make universal computing illegal.
* Theres been years where GPU's were being price gouged, 1st by crypto bros, then NFT bros, now LLM bros.
* Cant even buy RAM now.
* They put e-fuses into hardware now, comes right out of the factory as ready made e-waste that cant be repurposed.
* The biggest platforms, Android and iOS, are walled garden, locked down, corporate nightmare worlds. And there is practically no alternative.
* Social media is making people depressed and also very easy to manipulate en-masse by anyone willing to pay.
* Moore's law stopped and software bloat overtook performance gains.
* VR might have been cool but it was pre-enshittified in its nascent stages. Freakin' facebook bought Oculus before they had released a single headset.
Yeah that is good, there are some good things, but I think on average the computer user experience is worse.. In the 80's and 90's with the rise of microcomputers and the net and the web and Linux, things were so utopian, things just seemed to keep getting cooler and computing was empowering people.
Very rare disease, expected to be misdiagnosed as psychiatric. I admit I would (neurologist here) But you were luckily treated by an excellent neurologic center.
The lesson learned is that there are rare diseases (<1/10.000-100.000) but as they are so many, they form an important minority next to common ones (1/100-1000). Just don't forget them when data don't fit well. Such estimations is a hard dexterity of doctors that cannot be rivalled by AI.
I asked my wife about it since she has more context on the chance encounter with a neurosurgeon who was ultimately responsible for the transfer into Brigham and Women's. She said there were two things of note that led the neurosurgeon to step in (according to the neurosurgeon):
Decompensating at an increasing and alarming rate, not typical from a psych perspective. Also not in a healthy young male with no history. My wife was able to substantiate this claim with my detailed timeline. (I had some emails and wrote a lot of stuff down, as is my nature, during this time.)
Psychiatrists are tourist guides for the Paris catacombs who try to get around using an underground map.
When you do cluster analysis of the symptoms of psychiatric patients, the empirical clusters don't match the DSM entries.
Schizophrenia is at least 8 distinct diseases (see GWAS), so orphaned that they don't have a name.
Psychiatry is an epistemic mess, and medicine uses it as a garbage bin for the patients it doesn't understand (because blissful ignorance is the norm over there).
I don't mean direct this specifically at you, but aren't there databases that can look up diseases by symptoms? Are doctors not trained to consult those, maybe after ruling out common causes? Why is forgetting relevant in this context?
I'm asking because I've had frequent encounters with doctors whose process seems to be, literally, "remember if there's anything like the described symptoms that I learned in medical school" which, if they were somewhat older, was probably 30+ years ago.
After my abnormal brain MRIs, my understanding is that the diagnosis came down to either some kind of encephalitis or multiple sclerosis. But test results have to come back first. I was even set up with a follow-up with an MS specialist. Once my anti-NMDA receptor encephalitis test came back positive though, that follow-up got cancelled and replaced with a neuro-immunologist that specializes in these sorts of things.
Holy hell. Those symptoms, that clinical experience, that had to have been completely terrifying. Very glad you're on the mend, and that you got a straightforward (if weird) diagnosis.
What an ordeal, this stuff really scares me, like the post about the Gitlab founder having to diagnose and treat himself. Great to hear you are recovering. If you find yourself in Cambridge I will gladly buy you a beer for how much rg has helped me.
This sounds horrifying. It’s one of those stories that makes me think in just how many ways our bodies or minds can break or malfunction in terrifying ways. Any one of us could, right now, carry a lethal tumor that hasn’t been discovered.
Best of luck to you, and get well. I’m glad it didn’t get even worse before it was treated.
CDC mortality tables [1] are kind of eye opening for those who don't realize how brief life is. Average age range on HN is probably in the 25-44 year old bracket. That bracket has an approximate mortality rate of 140/100k per year. HN has what, 5 million or so monthly users? So that means of all of 'us', it's expected that around 7,000 HN readers age 25-44, die each year. That's fairly close to 1 death per hour.
Your CDC figure is an average over all genders. Assuming hacker news readers are disproportionately men, the mortality rate is even higher, since men die younger than women on average.
On the other hand, my guess is that male HN readers are not a very representative sample in this respect. That is, they (we) are significantly less likely than average to engage in the type of risky behaviors that mostly explain the gender disparity.
I wasn’t aware of the degree of disparity in early-onset ischemic heart disease, thanks. But it doesn’t seem to me it’s "mostly heart disease rather than risky behavior", more like those are both major causes of excess mortality among young men.
A lot of gender disparity is cardiovascular disease being 50% more likely to be diagnosed in men than in women of same age, so not directly related to risky behavior.
Wow, it's crazy that some states have over 2x the mortality rate of others. Also pretty striking how quickly mortality increases with age even at "young" ages.
>it's expected that around 7,000 HN readers age 25-44, die each year
That's not true unless HN readers are a representative sample of the overall 25-44 population, which they aren't. Higher-income/SES is associated with a lower mortality rate than the overall population average.
These sort of factors all have a relatively small impact. For instance, to take it to the ridiculous extreme, billionaires live about 10 years longer than average. That sounds like a lot, but it's "only" about 10-15%. So instead of the conclusion being ~7000 dying each year, it might "only" be 6000 or whatever. It's largely inconsequential to the point. And as another point mentioned we're going to skew male which brings our life expectancy significantly lower, and probably goes a long way towards balancing out whatever socioeconomic advantage that may exist.
Whatever the exact number may be 7000 is going to be a pretty reasonable ballpark, and it's certainly orders of magnitude higher than most people would expect.
>That's not true unless HN readers are a representative sample of the overall 25-44 population, which they aren't. Higher-income/SES is associated with a lower mortality rate than the overall population average.
7K/year is for the healthy, affluent, tech-worker-heavy population already. For the general population, US, is ~ 12K/year.
Not that higher-income/SES is necessarily representative in a supposed 5m strong HN readership - it would be all kinds, from all around the world. SV startup / FAANG types are just a small slice.
When you look at how molecules like RNA work, and krebs cycle, and the billions of cells we are composed of, and so on, it always strikes me as astronomically lucky that we function at all. Like how can this assemblage of Rube Goldberg machines function for more than 1 seconds without catastrophically falling apart?
I think multicellular creatures on earth are just so complex they are basically ineffable.. We can understand certain general principles and statistical trends, but the entire system holistically is incomprehensible for a human level intelligence.
Kind of analogous to ML, we absolutely understand how each neuron works, we built them! But we often dont really understand how the resulting model works.
I can't begin to imagine the pain and stress caused by those symptoms, but I am so very happy to hear the prognosis is quite good. A linked scientific article makes the case that this is a very new diagnosis, and increased awareness might help a lot of people, so if you are reading this burntsushi, thanks for being open about something deeply personal, I hope I would have had the courage to do so myself.
There were lots of reasons that went into me posting this.
First and foremost is that this is a disease of chaos that is prone to misdiagnosis. I want to shout this from the roof tops to spread awareness. I don't have a ton of reach, but I have some, and I want to use it to amplify things like this.
Second is that I'm somewhat naturally open about these sorts of things.
Third is I feel a responsibility to my projects and users.
Fourthly is that it's just practically useful to have a link to send to someone when I reference this time period in my life. :-)
> very new diagnosis
Yes! Discovered in 2007. Wild.
> so if you are reading this burntsushi, thanks for being open about something deeply personal, I hope I would have had the courage to do so myself.
I can only speak for myself, but I'm just glad you're still a member of these communities. Take care of yourself, and I look forward to many more years of learning from your code!
My wife had anti-NMDA negative Encephalitis two years ago after suffering severe seizures out of the blue - her diagnosis in retrospect is NORSE (new onset refractory status epilepticus). She was put into an induced coma for 2 months, it took a long time before they realised it was encephalitis. Whilst she survived, her recovery is still ongoing. She was 32 when it happened and will never work again due to her brain injury and ongoing epilepsy.
@burntsushi thanks for sharing this. A few of the symptoms you described felt painfully familiar to my aunt who's still undergoing AE treatment and is deteriorating after a short recovery.
She's 59y.o. living in the Philippines and was recently diagnosed with autoimmune encephalitis after initially being misdiagnosed as having a mild stroke and later psychosis. She had balance problems and fell down while sweeping the floor. She developed language problems. So she knew what she wanted to say but couldn't get the words out. My mom and I thought it was mild stroke. Over the following weeks she developed seizures, required a feeding tube and ventilator support, and is currently undergoing treatment in Cebu Doctor's Hospital, Philippines.
If anyone here has experience with autoimmune encephalitis, patient advocacy groups, research programs, financial assistance resources, or treatment centers that might be helpful, I would be grateful for any suggestions.
My family has also put together a fundraiser to help cover her ongoing treatment costs if anyone would like to learn more. We'll provide weekly updates and full transparency. Mods, I hope you allow this link: https://www.gofundme.com/f/help-save-rowenas-life-from-autoi...
If not, my email is in my profile and you can DM me. I can't post pictures of her with her current state because I don't have consent. The one picture I have of her current state is also censored.
There is actually haha. I've always hated sushi. And sushi is now on my shortlist to try again. I can't wait.
(My handle comes from graffiti I found on the booth of a hot dog stand in Worcester MA called Coney Island[1]. I thought it was a cute oxymoron and adopted it on a silly whim. I only later learned that some sushi is indeed cooked.)
Man, the origin of your screen name is the same level of lore as Rust being named after fungi, and not corrosion. Love it! Glad you're in better health again. Been using your software for nearly 10 years spanning before and after my career started. Thanks for all the work you do in open source.
I've had some experience with situations like what you experienced in my family, and I just want to say how glad I am to hear that you had people in your corner to help you out when you needed it the most.
NMDA receptor encephalitis is usually associated with a particular ovarian tumor, so the first thing I did on seeing this article was to check if the author is male or female (he's male). It is the habit of certain cancers to present with bizarre symptoms (so-called paraneoplastic syndromes) including psychosis as in this case, and often it can be months before someone thinks to look for cancer. I'm glad the author's okay.
The thing with all these autoimmune diseases: they have the same foundational problem. Their is something in the blood that doesn’t belong there and it resembles some part/cell of our body. Our body builds white blood cells to destroy this thing and inadvertently destroys part of the body. The important questions: what is it and how is it getting into the blood?
The most likely way it gets into the blood is through the digestive track. Some possible mechanisms:
1. Some detergent or similar chemical (e.g. PFAS is a solvent) dissolves the food (or the oil carrying the food) into water. The stomach pulls water back into the blood stream, bringing dissolved things with it.
2. There is some damage to the stomach or intestinal lining, stemming from physical injury, things getting stuck (lack of fiber), acid damage, some other chemical destroying mucus lining, etc.
3. You also have some autoimmune damage on your intestines.
4. You eat certain foods that require a symbiotic digestion with gut bacteria, but lack that bacteria or have killed it with eating preservatives or pesticides or artificial sweeteners, etc. The undigested food makes it to the larger absorption holes at the end of the intestinal run.
It’s also possible that a brain injury caused some brain cells to end up in the blood stream. Normally, though, the body has a mechanism to avoid attacking its own cells, the CD47 mechanism. Maybe that can become damaged or malnourished in some way. I’m sure that there’s a host of other things that can go wrong with that.
During the thick of it, I could barely write at all. Physically as well. It was physically difficult to make the letters and others had a lot of trouble reading what I wrote. (Which was especially annoying when I had to fill out consent forms for my therapist!) Just the simple task of: 1) reading them, 2) signing them, 3) scanning them and 4) sending them back to her was incredibly difficult for me to do.
I have since been scanning documents like a boss. Lol.
It's nice to see peoples' success stories with diagnoses. I've been suffering from something for more than 20 years now. I was healthy until 2005. Then it seemed like I got sick with some kind of virus and just... never got better. I have unpredictable good stretches and bad stretches. During my bad stretches I can't get out of bed. I've mostly given up on the idea of a diagnosis myself, after seeing dozens of doctors over the years, with the most positive interactions being Stanford researchers telling me I'm a really "interesting" case.
Also, thank you for participating in the clinical trial. I pivoted my tech career several years ago to focus on that industry (the tech isn't great, I'm trying to help that). Along the way I've learned how important it is to participate in this research, it makes a massive difference so thank you.
I came here to say nearly the same. I used xsv SO MUCH at my last job, because the intermediate format of everything in the particular project was CSV, and I just could plow through everything using it. And of course BurntSushi/toml is in various go projects I have worked on.
I'm glad that get to carry on doing whatever makes you happy, and for your whole family.
Glad he had connections to get out of the psychiatric institution. Thinking of all the unfortunate people without the means being incarcerated there with their misdiagnosis, getting put down with antipsychotics
I'm very lucky to have had that connection. I didn't even know I had it until it was there. So I'm lucky on another level there too.
I was put on a low dose of an anti-psychotic. I am in fact still on it. We just haven't gotten to tapering off of it yet. (Other medications have taken higher priority.) Tapering off all of my medications, which is the goal, will take quite some time.
In the moment, I very much welcomed the anti-psychotic. I would do anything to fix what was wrong with me. The problem is that the front-line treatment for anti-NMDA receptor encephalitis (IVIG and steroids) takes a minute to kick in. Moreover, you don't have the diagnosis until later. There was a point in time, before the positive CSF antibody test but after the abnormal MRIs, where multiple sclerosis was a possible diagnosis.
In any case, once I got out of the psychiatric hospital and into Brigham and Women's, an MRI is indeed what I had right away. And that's when the brain lesion was found. But! Not all cases of anti-NMDA receptor encephalitis have an abnormal MRI. Susannah Cahalan, for example, had two normal MRIs. Brain inflammation was only detected indirectly at first because of the "clock test"[1]. And they later did a biopsy on her brain to confirm.
In retrospect, yes. I think I could have done a better job of advocating for myself on my first ER visit and demanded to see a neurologist. But I didn't know what I didn't know, unfortunately.
Intriguing... "After months of misdiagnoses Dr Souhel Najjar, employs a test asking Susannah to draw a clock. Instead of the customary clock face, her condition led her to draw all the numbers 1 through 12 on the right side of the clock. This was the breakthrough moment; it was this clock drawing that enabled Dr Najjar to understand that the right side of Susannah’s brain was inflamed, further test revealed this inflammation was a result of anti-NMDA receptor encephalitis, initiating her path to recovery"
I wonder how close this disease, and the similar ones in the comments, are to a general 'chronic fatigue sydnrome' diagnosis is. Which I've been dealing with for a decade. Definitely a strong autoimmune component to it...
In case this might resonate with someone but from the 100s of tests i've done, the most significant result for me was a 5x normal renin, which led me to eventually try fludrocortisone, the first time i finally felt 100% relief but only for a couple of days before sliding back into fatigue...
Count yourself incredibly lucky OP that you both got a diagnosis and also have such support around you. It's tough out here
A decade of dealing with CFS sounds like absolute hell.
I saw a close friend decline from a 90%-ile athlete to having trouble getting out of bed within a span of 2 months, and it was heartbreaking. This is someone I looked up to in the gym, went climbing with, went on hikes with. Living in Spain, he did have a hard time getting a proper diagnosis, with doctors eventually settling on ME/CFS. It's been 2 years now and he is slowly on his way back to being functional; went back to his job and he can even do light exercise once a week now.
I am going to ask him if he was prescribed corticosteroids as part of his regime. I do remember during his early tests (I know because I accompanied him) that he did test positive for Mononucleosis antibodies, but he doesn't remember showing any symptoms at that time.
Thanks man, yea I also have mononucleosis antibodies which I think caused it (EBV IgG and IgM) which I think was the trigger for me (Glandular fever). Seems like that virus in particular lingers and reactivates in many people.
My current line of research is into treatment for that, I've tried all the usual antivirals but they don't do much, but there's several new actual vaccines being developed which I'm trying to get into the trials for (in Australia).
Would be keen to know more about his story, thank you
The first thing I would do with any sort of weird issue remotely associated with my brain is to get an MRI. I would pay for it out of pocket if my doctor denied it or said it was psychiatric. Trust no doctor 100%, especially when they dismiss your symptoms as hormonal or psychiatric or anything else that doesn't go through a thorough examination with all available technology.
This is where AI like ChatGPT shine because they won't just dismiss you.
Not sure why this was down voted but there's truth to this.
I quit an SNRI antidepressant twelve years ago and for ten years I had horrible migraines, inability to form sentences, constant anxiety, low motivation, and other symptoms. Doctors just diagnosed it as depression and me having problems.
I knew something was wrong and I suspected it had to do with withdrawal from my old antidepressant. I read online and found others saying something similar. Gemini was able to help me confirm with and provide resources from specialists about this because the average psychiatrist knows nothing about this.
Finally I had a name for my issue-- protracted SNRI withdrawal syndrome. Trying to get off the medication too quick put me into some kind of continuous withdrawal. After confirming this I got back on the old medication and slowly reduced the dose this time.. I feel better than I have in 10 years.
Doctors still don't understand it and sometimes when I mention it to one(I have a few in my family)they just say "that's not supposed to happen". Never put your health solely in another person's hands. Utilize every resource available to you, even the most educated doctor in the world cannot know all there is to know about their field
The human body is an incredibly complex machine. The doctor may be an expert with particular conditions, but at the end of the day, you are the #1 world-leading expert when it comes to your own body. You're the only one who knows what's normal and what's abnormal and to what extent.
I went to see an eye specialist recently for vision problems, and that was the first thing she did - sent me for an MRI of my brain. First time in a wub-wub-wub machine, that was an experience!
(It took two months for my MRI appointment, but hey at least it was free, thanks Australia?)
> Thank you to my friends, family and doctors as well. Their support during this time was unwavering and I’m not sure what would have happened without them. “Nothing good” is what a nurse said when I posed that question to her.
I've always been told (and this has been true over the 4 or 5 times I've been hospitalized in my life) that having someone there for you, to support you and also to serve as your 'patient advocate' (so helping making sure all of the questions are asked of the doctors and stuff like that) has a definite positive effect on medical outcomes. In my cases, it was my family filling this role.
I whis you the best, you teached me a lot with your blog posts and code, and your software had an impact in how I use computers. You are probably the only developer alongside Torvalds that my wife knows by name (well, nickname) since whenever you do something cool I feel the urge to share my excitement with her
Andrew is truly such an inspiration. For him to have been still delivering for the open source community during all this really goes to show that you never know what someone else is dealing with.
>It all started with flu-like symptoms: heart racing, night sweats, the chills and trouble sleeping. But no congestion or cough. I also felt really off mentally. A deep sort of anxiety, along with panic attacks, that I had never experienced before in my 38 years of life. It was terrifying, especially because I had no idea what was causing it. There were no life events or obvious triggers that precipitated the psychological symptoms, nor was there any obvious biological explanation for the physical symptoms at the time. This was only the beginning.
Interesting, I had similar symptoms 5 years ago, including trouble swallowing which in itself induced a sort of panic. Also, I have experienced 6 "attacks" (not sure whether a panic attack is the right name) in two days, that felt like all my limbs were numb (with that tingling feeling you get when you keep your limb in an awkward position for too long) and tightly wrapped in duct tape, accompanied by rapid breathing, fast heart rate and dizzy vision. I wasn't diagnosed with anything specific and it went away on its own, but later the same year I started feeling occasional heart flutters as if my heart was going to jump out of my chest. Got tested and was diagnosed with a 2nd degree AV block. To this day, I have no idea what caused this and whether the two events were even related. Life can slap any one of us in the face in countless ways. Creatively vicious.
Glad your prognosis is quite good. Wishing you a fast and full recovery.
What BurntSushi said regarding these things being very nonspecific is absolutely true here.
E.g. Multiple Sclerosis can very well fit what you're describing, too. Commonly, there's a flare-up (we commonly use the term "attack" funilly enough)of some neurological symptoms (numb limbs, tingliness, diziness, vision issues are very common) that can last a few days/weeks and then mostly or completely subsides (until the next time).
Absolutely not suggesting that's what it was, just that it is what it could be too (or many other things — auto-immune diseases in particular can be really broad and nasty).
Sushi, I'm so glad you're doing better. Some of what you said (including just writing about it for awareness and sharing) resonates with my MS experience. I'm sorry you've experienced this and I hope things will keep looking up! <3
And yes, at one point, the doctors said I almost certainly had MS. For exactly the reasons you stated: my symptoms were consistent with it. It was only when the antibody in my cerebral spinal fluid came back positive that my diagnosis shifted to anti-NMDA receptor encephalitis for certain. Prior to that, I already had a follow-up scheduled with an MS specialist. I'm guessing that was done because of how rare anti-NMDA receptor encephalitis is.
Yep. It's really fascinating. MS is much more common (and well-known) so even though the diagnostic criteria can get quite complex (because you have to eliminate any other potential case), it's a well-trodden path.
So it's great that with anti-NMDA there is an actual singular test to determine this, but given it's so rare and little-known, getting to that point is very much not given :-(.
Trouble swallowing, jaw pain, dizziness, double vision (and more) were all things I experienced as well. At one point, my left eye was dropping significantly.
Not to say you had or have what I have. The symptoms are very non-specific.
> [...] Since I had been cleared physically, getting out of the psychiatric hospital quickly to see a neurologist proved difficult. This was the single point, in retrospect, where our health care system let me down. It took a lucky connection with someone who happened to be a doctor to get me out of the psychiatric facility and into the neurology department at Brigham and Women’s Hospital in Boston.
That sounds scary. As someone without any experience with psychiatric institutions or the US health system, I'm curious what people's views are on this.
Won't weigh in on psychiatric care, but I will say from experience that everyone should look into both an advanced healthcare directive and an advanced psychiatric care directive: these are documents that authorize someone else to have input into your care if you are unable to do so yourself. Psychiatric care is considered separately so even though a medical health directive was in place we were stuck and could not have input into care even though we tried. Set this up before needed because in an emergency it may be too late and care providers are limited in what they can say and what they will do without that.
Consult a lawyer. Participating locations only. etc. etc.
We did at least have a health care proxy and a power of attorney in hand.
Funny story (that I didn't include in the blog) is that I actually wound up in a psychiatric facility for a second time after I was in-and-out of Brigham and Women's on 3 separate occasions. I was in a much better state mentally and physically, and this particular facility (McLean Hospital) was way better than the first one I was in. The circumstances were different and I was happy to be there because things were still very rocky at home. And very dark. So my wife and I felt it better that I be in an in-patient facility at this point, which came right before my official anti-NMDA receptor encephalitis diagnosis.
Anyway, the funny story is that I showed up to McLean, after being transferred from Brigham and Women's, with a physical copy of my wife's PoA over me and a health care proxy. The charge nurse said it was the first time he had ever seen anything like that before.
Oh dear! Medical issues are scary enough without all the red tape (has to be a better word than that) getting in the way of good care. Spreading the word in the hopes that it is more common and fewer people are left out
Thanks for sharing the story so openly! Sorry for everything you went through to get a proper diagnosis and treatment and for everything that the encephalitis itself inflicted on you. Glad you're doing better!
if you ever want to read what happens when your brain breaks and you don't have a neurologists number in your back pocket , feel free to peruse the subreddit r/antipsychiatry
Back in 2007, I was diagnosed with Churg-Strauss syndrome, renamed to the pithy Eosinophilic Granulomatosis with Polyangiitis (EGPA). It affects about 3 out of every 100,000 people, so rare. At the ER, I was told maybe I had tuberculosis. Then they thought it could be cancer. Then they thought maybe HIV. A few weeks later after being hospitalized because it had become progressively worse a pulmonologist correctly diagnosed it. Autoimmune diseases seem notoriously hard to pinpoint. Churg Strauss is a syndrome, meaning it's a constellation of symptoms. Some organs were permanently damaged, but I'm doing well and haven't had anymore flare ups. Glad this author shared his experience and that he's doing better.
His manager deserves the thank you. If someone started exhibiting the issues described in this post at any of my employers past and present, I suspect they would figure out how to get rid of them.
Horrible to hear this news. Neurological diseases are the worst because we understand so little about them and usually there is no cure, just management.
What have your experiences been with using AI for medical advice? Especially for such rare diseases I suspect that very little shows up in the training data. Personally I'm using AI only for work and only recently started using it for non-work non-coding stuff too.
> What have your experiences been with using AI for medical advice?
I had been trying to use Gemini during my bout of encephalitis before treatment. I wasn't really trying to diagnose myself, but instead, was looking up side effects of the various (psychiatric) medications I was on. At the time, I (but not my wife) had thought all biological causes had been ruled out due to testing from my PCP. To be clear, I wasn't really in my right mind, so whether this was a reasonable belief or not (likely not) isn't something to be assumed. Like, I just thought I had GAD. Or OCD. Or something latent that had just all of a sudden started rearing its ugly head.
I found Gemini's reporting of side effects of medication to not be helpful. Especially because it led me to wonder if some of the things were "in my head" (without a doctor even needing to say it). Anyway, there was never a point at which any AI suggested anti-NMDA receptor encephalitis. That didn't really come up until I got into the hospital and had an abnormal brain MRI.
I've since switched to ChatGPT, which I find to be leagues better than Gemini personally.
This is all really hard to explain, so I apologize if this doesn't make a lot of sense.
IMHO if you have a sufficiently empirical bent of mind, you are both more equipped and more invested in a good diagnosis and analysis of your own conditions. I have a personal EMR system that I run for the family and I get as much data as I need to tackle health issues. If you do, it is important to maintain epistemic hygiene: you need to correctly consider base rates, false diagnoses, and so on.
If you are able to do these things, it's worthwhile to record everything you want: full body MRIs, CT scans of the head, all your X-rays, your blood records and so on. Other countries are easier to get these in, but even in the US a full body MRI is under $2k, Ulta will test your blood for you, and so on. You can't get most medication here easily because it is prescription-gated[0], but many things are available in India (where I'm from).
Neurological conditions are a pretty big risk, because self-analysis is using degraded machinery at that point, though. Admittedly, a hole in the way I handle things. This is another one of those situations where it is valuable to have a wife.
0: Almost all self-analysis encounters the problem that a third-party to the interaction is the one usually paying, and so most players cater to that
Just the industry term for what you’re building. Electronic Medical Records / Electronic Health Records. There’s some subtlety with what they’re doing that makes this more an EHR system (cross practice patient record rather than single practice patient record) but I’ve named it what I’ve done.
I am glad you were able to find the root cause and get treatment, and sorry you had to go through this. I hope we will soon remove “psychiatry” from the domain of medicine completely and start addressing actual biological issues directly.
The interesting bit here is that getting to talk to a psychiatrist was one of the main things that "excited" me about getting checked into a psychiatric hospital. My understanding, at the time, was that they crossed the lines between biological and psychological. A psychologist with an MD, if you will. That seemed, at the time, like exactly the kind of inter-disciplinary doctor that I needed.
There was no psychiatrist that I could see at the ER as far as I know. I had to get checked into the psychiatric facility in order to see one. So that was another dimension here where I was enthusiastic about going, and probably made the decision by the ER to send me there easier.
Glad to hear that you found your way out of the psych ward to get properly diagnosed and treated. I've witnessed first hand people getting trapped in the psych system with neurological or endocrinological conditions. It can be almost impossible to get out, especially if the "diagnosis" is a psychotic disorder. Once you have such a diagnosis pinned on you, anything you say can be dismissed as a delusion, and most psychiatrists are woefully bad at considering somatic explanations for symptoms. You definitely got very lucky.
This is the first I'm hearing about anti-NMDA receptor encephalitis; what a strange and scary condition. If you don't mind the prying, I'm curious about some things.
I noticed you said in another comment that you were treated with antipsychotics in the psych ward. Would you say they had any effect in lessening the symptoms? My intuition says no, since I'm not aware of any conventional antipsychotics that interact with NMDA receptors directly(mostly they act on dopamine and serotonin receptors), but psychopharmacology is tricky that way...
And, another thing. Have you ever tried dissociative drugs(like ketamine, PCP, DXM), and if so, how similar would you say your experience was to those drug experiences? Of course, feel free to tell me to fuck off if you don't want to discuss that in a public forum.
I am wondering how many of these originated from Covid messing up the weakest parts of the body forcing generation of autoantibodies against them by the immunity.
It is also worth pointing out that I have had (somewhat mild) psoriasis on my scalp since I was a kid. It is also an autoimmune disorder. My understanding is that having one increases your chances of having another.
I also have blood relatives with lupus and rheumatoid arthritis.
I read his comment on how his wife was supportive and now gives me perspective on what a partner does and what one can expect from them. I’m not able to articulate it but it’s nice to see such a profound support.
A bit off-topic, but I feel like humanized monoclonal antibody treatments are so under-appreciated today despite showing efficacy against a broad class of diseases, infectious, auto-immune, and even some cancers. Absolutely amazing class of drugs IMO.
Yes! As I understand it, each dose I received (I got 3 of them) came from ~1,000 different donors. It was more expensive than my room and board at the hospital, and my room and board was not cheap.
Thank goodness for health insurance. (Which is very shallow gratitude since the system is broken in many ways. But this ended up not being a financial burden for us, which I am very thankful for.)
> The problems with balance and the overwhelming nature of my psychological symptoms eventually led me to fall and hit my head. This in turn led myself and my wife to decide that I couldn’t be safe at home. And that brought us to my first emergency room visit.
It was baffling to me that it took a fall and hit on the head before the author went to the hospital, until then I saw they went to a hospital in Boston. So, American.
It's tragic how the broken American healthcare system is holding back innovators and global contributors.
My ex has mast cell activation syndrome. We would have to call for an ambulance 3-4 times a month because some days eating a grape could cause her to go into anaphylactic shock. She was allergic to whatever her body felt like at any given time.
She was misdiagnosed/undiagnosed for 18 years. I was baffled by this, and I myself have spent numerous hours down the rabbit hole of nootropics, and had a DNA test and was researching myself and how things work and how supplements affect your body and such for sometimes 12 hours a day. (Chronically unemployed, chronically ill.)
We got her a DNA test and I went to work researching everything and comparing the possibilities to her symptoms, we tried countless different supplements that could help... And eventually one did, it wasn't a cure but it was a relief she had never felt before. That was Quercetin, which is a mast cell stabilizer. It took about 2 years of research and trial and error to find some relief. We took our findings to the doctor and finally got a referral to an internal medicinist who promptly after hearing the symptoms and what has helped diagnosed her and she was out on a proper mast cell stabilizer. She went from being in bed 20 hours a day to being able to fully enjoy life. (Sadly, without me though!)
I just learned I have this as well (not as severe). Quercitin helped me. I am taking I think 1600mg (with bromelain) per day. How much was she taking, and what is the mast cell stabilizer that helped, if you don't mind my asking?
I've been dealing with my symptoms for 17 years this year and Quercitin + Zyrtec + Pepcid is the first thing that's made a dent in it. I started a few weeks ago and it's been amazing but I'm not experiencing full relief yet.
This was the combo Claude recommended I start with for a trial, one message after I told it my symptoms. No doctor has ever been able to help.
Not op but my wife has MCAS. The things that have helped the most are: Oral Cromolyn (helped sooo much with gi issues), and more recently she's started Ketotifen which is a systemic mast cell stabilizer that's seemed promising but is fairly new. She also tried Montelukast which was well tolerated but didn't make a ton of difference for her personally (but I know it helps a lot of people). Supplement wise DAO was the most useful for food truggers
I know someone with what we thought was MCAS, but it actually ended up being Alpha-gal Syndrome. Knowing that made the whole thing much easier to deal with.
Thank you. This is good info.
Check out Ketotifen
I found H2 anti-histamines like Pepcid actually made my symptoms worse.
I was in a similar situation where Claude finally helped me make a breakthrough. It seems that my issue is entirely related to histamine levels.
* H1 (like Zyrtec) help block the body’s response to high histamines
* H2 (like Pepcid) actually worsen my symptoms overtime because my body was readjusting baseline
* Quercitin and DAO enzyme help massively.
Also being extremely mindful of histamine levels in food helps keep my baselines low. This can be tricky because histamines collect as food ages (so two batches of something can lead to different responses) and some “low histamine” foods can still trigger your body to dump histamines (so they actually act like high histamine foods).
I was on a similar path, but way less severe. I’ve become intolerant to eggs and chicken (and a bunch of other stuff) for some completely unknown reason. Over the course of the past 5 years, my overall health got progressively worse and worse.
I tried all sorts of different things, but couldn’t nail down a pattern for years. Even worse, some days I could tolerate something and others it would blow me up. It wasn’t until I started telling Claude literally everything I consumed and how I felt that it dialed into histamine response triggering mast cell activation.
I started to realize that a lot of “low histamine” foods either build up histamines as they age (so leftovers kill me) and some “low histamine” foods actually cause the body to naturally liberate histamine (essentially mimicking high histamine foods).
It’s extremely hard to get a diagnosis because the triggers are seemingly random and don’t always correlate with common buckets.
Ooh, thanks for this. I'm going to try quercetin for my histadine sensitivity in red wine, which causes a skin reaction. I thought it was the sulphites, but after trying older wines (which have fewer sulphites), it made it worse. So I've narrowed it down to histadines. The dilemma here is that wines tend to improve with age, but they contain more histadines.
Can you tell more technical details on how did you approach the research?
If I can get Claude to thing about the actual science and bio-chemistry, it can reasonably be through things extremely well.
What's was her daily Quercetin dose? Trying to compare notes.
> Sadly, without me though!
Sad to hear that. You sound like a keeper. Anyway, are you free this weekend? ;)
Why did you breakup after everything?
The problem with being a "fixer" in relationships is if the other party is fixed, what they want changes, and often what they saw in the relationship isn't as relevant anymore. (to speculate from afar)
I will point our that most relationships end in separation. Maybe the reason for the breakup was in their story. Maybe they just stopped liking each other. We can't know without OP telling us.
Some fixer’s lose purpose once partner is “fixed”
reminds me of the fixer in pulp fiction. Life of action, then off with a wink and a nod.
If not, maybe op can reframe and grab life by the horns.
These kinds of things can be quite life changing, people can come out the other side quite different people.
Probably because life is not a fairy tale? I'll be heavily projecting here, but:
Health issues can be immensely stressful, and what is required to provide the best logistical and diagnostic support is very different from what is required to be a supportive partner and emotional caregiver. Doctors often fall into the trap of treating the disease and ignoring the patient, but at least that aligns with their job description. It is quite easy to do the same as a partner, and that is NOT the job. For certain personalities, it can often be a massive relief to disappear into searching the web and poring over medical research studies -- the key word there is "disappear". Plus, if someone is suffering physically, you can't really require them to have (what you think is) the "appropriate" amount of gratitude for what you're doing for them. (And physical suffering is always going to lead to mental suffering unless they're a 1000-year old enlightened monk.) You can be quite proud of your savior cred, and your partner can very reasonably tell you to shove that pride up your ass.
It's not about whether you're good enough or not. We all start with woefully naive views of how robust our relationships are. We get together as certain people at a certain time. Living together deepens and widens the basis for the relationship, and we'll all fool ourselves into thinking that nothing can break that apart. But fast forward a decade or two, and upend one or the other of your lives with a health challenge or some major life event, and you'll soon discover that you're in new ground and have to learn a bunch of brand new skills that you never needed before. And there's no particular reason why this person X who you bonded with years ago in environment Y is going to be easier to learn with than some random person off the street now that you're in environment not-Y with a different person X2 who evolved from person X -- just as you've evolved (or devolved) into Me2 from the Me you were. Especially not with the added challenge of a long history together of frictions and irritations that never mattered enough to tip things over the edge but do now in the new environment.
For the record, I'm still married to my X2 in my very-not-Y situation. For now. But I've seen enough that I would never look down on or even be surprised by the dissolution of even the strongest-seeming relationships when a novel challenge comes around.
Back to fairy tales -- Prince Charming's main claim to marriagability was his willingness to make out with a hot living corpse. Are you so sure your own claim is that much superior?
>"And there's no particular reason why this person X who you bonded with years ago in environment Y is going to be easier to learn with than some random person off the street now that you're in environment not-Y with a different person X2 who evolved from person X -- just as you've evolved (or devolved) into Me2 from the Me you were."
This is overly strong. X2 is likely similar to X and Me2 is similar to Me. X2 is certainly more likely to get along well with Me2 than a random, but far from guaranteed (which proves your point, but I wanted to rein in the pessimism)
Yes, that's fair, and you are right. I guess I was using hyperbole to contrast with the naive and common "I'm great at basketball so obviously I'll be really good at baseball" mentality. The skills are not unrelated, but success in one area does not guarantee success in another.
> Doctors often fall into the trap of treating the disease and ignoring the patient
My brother last year went to the doctor with an ear ache. The doctor prescribed him some liquids and pills. Only after he left he realised the doctor never even looked into his ear!
I'm pretty sure someone will accuse me of reading my own trauma into this, but AgentMasterRace mentions also being chronically ill. No mention of timing between Ex significantly imroving and deciding that they had "better options", but the sad reality of life is that many people you love, including friends, will never care for you the way you might care for them, and once they have "better options" will cast you aside, even if you're the reason they have those options in the first place.
Human relationships are brutal sometimes. I still choose to treat others the way I would want to be treated, and some people _actually_ reciprocate, and you eventually learn who is who in your life, but this requires that you be open to the fact the majority won't, and that you will sometimes feel betrayed and used. You just have to accept that it's your decision to make, and decide what kind of person you want to be.
Other commenters are also probably right to one extent or another, the dynamic of the relationship probably changed pretty dramatically and that can create problems regardless.
Anyway, poor old AgentMasterRace probably feels like a depressing episode has turned into something they'd rather it didn't. Sorry for pontificating over your traumatic(?) event with allusions to my own. If I'm reading the meaning of their username correctly though, I feel less bad about it, lol.
Wise tender, and traumatically true words.
At the risk of sounding like a cryptobro ("What about using a blockchain?"), did you ever try testing LLMs to see if they'd be able to diagnose it correctly? (I'm guessing you did the research before LLMs)
Not OP but anecdotally: ChatGPT diagnosed my wife's MCAS, POTS/Dysautonomia and Ehlers Danlos Syndrome before any doctor did (not for lack of trying on the doctor front). Once we had that direction we found the right providers and it's made a world of difference
EDS and co are notorious for that; the symbol for various EDS organizations is a zebra, because doctors get patients with joint problems and think "arthritis, but they're a bit young, weird, oh well off to the rheumatologist" and before you know it you've seen various professionals and no diagnosis.
There's also HSD, which has a lot of overlap and may yet be a subtype of EDS, but the genetic marker hasn't been found yet. And when you get a patient with the full associated combo of symptoms [0], each of which only reveal themselves or become problematic over a long span of time (e.g. eye problems at young age, period problems / endometriosis as teenager/adult, neurodiverse conditions only diagnosed in 30's, severe joint problems and fatigue in late 30's, etc), few people will actually link them together as possibly having the same single cause.
But thanks to the internet, people with symptom X will find other people with symptom X and before you know it you have a group of people that are like "Hey, we all have symptom X, Y, Z, A, B and C, what gives?".
[0] https://en.wikipedia.org/wiki/Hypermobility_spectrum_disorde...
The last I knew, EDS and HSD are mutually exclusive. HSD is typically diagnosed because you have hypermobile joints, fatigue, brain fog, POTS, and other symptoms, but you lack the very specific genetic markers that hypermobile EDS requires.
The real problem is twofold. One is that EDS had historically been a diagnosis of exclusion, and a lot of the diagnostic tests were difficult. The second is that the disorders overwhelmingly affect women, and women tend to get ignored about chronic pain and fatigue.
What treatment did your wife receive? Did she improve?
Did doctors confirm Ehlers Danlos with genome sequencing?
90% of EDS sufferers have the Hypermobile variant, for which there is no genetic test. At least thats what I was told by an EDS specialist a few years ago.
Yes. However, there are some polygenic risk scores for EDS. While not approved for clinical practice, they can serve as guidance.
Anecdotally: an endocrinologist diagnosed me a macroprolactinoma just by seeing me entering for a consult about another problem.
"You're here for a prolactinoma?" "Nope" "I'd like to get this blood work done tho"
One week later the blood work confirmed her hunch.
Experience can get some crazy results.
Did they state what made them have that hunch?
It’s interesting the (consistent) list of conditions that one struggles to get an AMA doctor diagnosis for.
It’s because for whatever reason a large number of doctors do not fundamentally believe some of these conditions exist (especially with syndromes with no clearly understood underlying cause).
I could not tell you the number of doctors who have rolled eyes at the mention of ehlers danlos and hypermobility disorders.
What were her symptoms?
one of the really good things about these kinds of write ups and accounts of experiences and false leads is that I hope it feeds the LLMs with more context. For both me and my partner we've had problems with misdiagnosis that took a while to correct. My partner also suffered with auditory psychosis, and that was a super difficult (and bizarre) time. A little while ago I just started recording everything so I can use AI tools to validate medical advice and track symptoms, already it's caught things (semi minor things) that I've been able to address with my doctor. I would never suggest relying on AI tools, but certainly useful as a second opinion type thing as well as exploring possibilities.
I recently discovered openevidence.com, and it's apparently what many doctors have started using for diagnosing patients (with or without their consent). It could be worth looking into for trying to find an explanation of symptoms that might not have a clear diagnosis. It may also just be the new WebMD once it gains more popularity (or even already), but may be another tool in your arsenal all the same.
My wife has a cardiac autoimmune disease that was similarly misdiagnosed (including an appalling “it’s all in your head” from her family MD at the time). We underwent a year of immense stress. Just days before her probable death, she had a pacemaker and defibrillator installed, which saved her life.
I’m not entirely sure why I’m mentioning this, other than I sympathize deeply with your wife. What an absolute ordeal.
> including an appalling “it’s all in your head” from her family MD at the time
Oof. That one resonates so much for me - even living in a country with far better healthcare.
There's a term I dislike but is apt: medical misogyny. Basically it's, "systemic, conscious, or unconscious gender biases [which] affect how a patient is treated by the healthcare system."[1]
Systemic in particular is that basically the vast amount of knowledge amassed in the medical sciences has come from studying men. Comparatively little for those not assigned male at birth.
One of my kids has complicated health issues, pretty much from the time they hit puberty. If they hadn't had me (someone born with a penis) advocating for them and attending most medical appointments throughout their teenage years I'm pretty sure they would be dead now.
My most appalling memory is a gastroenterologist who patronisingly told my kid with a diagnosed anxiety disorder which exacerbated awful gut pain from irritable bowel syndrome that, "If you weren't anxious all the time you wouldn't be in so much pain." We both had a good cry in the car park after that appointment. It certainly set treatment of their IBS back a couple of years at least.
(Fortunately after a string of bad ones, we found a GE that treated them with compassion, and not as a gastrointestinal tract with an annoying human around it.)
Whew, yeah, touched a nerve there. So, medical misogyny. It's a thing.
[1] https://australiainstitute.org.au/report/medical-misogyny-in...
> There's a term I dislike but is apt: medical misogyny. Basically it's, "systemic, conscious, or unconscious gender biases [which] affect how a patient is treated by the healthcare system."
This is a loaded UK-centric policy/humanities term and I would suggest using sex/gender disparities instead which does not imply animus and is therefore much more useful for productive discussion.
Implicit and systemic biases in medicine are very real and supported by ample data.
> Systemic in particular is that basically the vast amount of knowledge amassed in the medical sciences has come from studying men. Comparatively little for those not assigned male at birth.
At least for the US this hasn’t been the case in clinical research for the past 15 years or so which in aggregate leans a bit more female than male if anything. Some specific fields still have sex disparity in clinical research for a variety of reasons but that’s the minority these days.
> This is a loaded UK-centric policy/humanities term
Yes, the implication of animus is the chief reason for my dislike of the term. The main failing of most alternatives is they don't roll off the tongue as easily or succinctly.
> this hasn’t been the case in clinical research for the past 15 years or so which in aggregate leans a bit more female than male if anything.
Oh yes, I didn't mean to imply the situation isn't improving (and an overcorrection in research at this point in time is probably a good thing, IMO (if it is in fact happening, which I struggle to believe (but that's my issue))).
The body of knowledge in medical science is a lot older than 15 years though, so I would think it will take a lot of time and effort to equalise.
Thanks for your response. I found it constructive and informative to my own thinking.
I'm a man, and when I was a teenage boy I was tired. All the time. My feet had also shrunk and I lost some height. This all started after a bad concussion, though I'm not sure if he made the connection on that last point.
My doctor's diagnosis? Depression. Oh, and my foot arch must be getting higher.
My sister's best friend going up lost her dad because he was told that the pain from recent dental work couldn't be that bad and that he should just tough it out. The infection broke through into his brain and he died very quickly.
My dad almost died from lupus because doctors wouldn't test him for it because it primarily affects women.
Women, statistically, are more neurotic. I'm sure that affects how doctors diagnose them, and it shouldn't. However, I don't like things like what you're describing to be attributed to misogyny. It could be, but it also could just be that doctors focus way too much on horses when it could actually be a zebra. Hopefully LLMs will help with that - when GPT 3 or so came out way back when, one of the first things I did to test it was to give it what I knew about my condition at the time. It told me 3 tests I should have done, one of which was correct, and one of which I still haven't managed to get a doctor to give me after trying for many years.
If you blame it on misogyny the actual problem won't get fixed.
I'm not blaming it on misogyny. I thought I was very clear that "medical misogyny" is a commonly used term, and was very specific on the definition.
Also, in this sibling comment thread[1] to yours I discussed with haldujai why we both dislike the term, specifically because of the animus is implies, which is inaccurate.
It is however, a term you will hear in discussions like this, so it is good to know what it means, and the fact that the problem as defined exists, no matter what you call it.
[1] https://news.ycombinator.com/item?id=48392371
I totally missed that. Your original post was more of a rant but it sure sounded like you were blaming misogyny. It was a poor comment.
As a Yank with practically every single demographic, physical, and financial advantage in his favor, I’ve been gaslit by about 8 of 10 specialists. Only car dealerships are worse.
Even obvious things like “I can’t move my left hand after 1 hr of light typing” were excruciating difficult to get diagnosed by “board certified” specialists with 20 years experience. It’s not that they were wrong —- they flat out weren’t even interested in making diagnosis nor conducting a simple test that could lead anywhere. Financial costs and insurance requirements weren’t the issue either.
“My chest hurts after walking slowly to the mailbox. ‘Well, you waited 1 month for this appointment, we’ll do an ultrasound in 2 months, discuss it 1 month later, and then maybe figure out next steps “
I cannot imagine a more dysfunctional aspect of modern society. The Department of Motor Vehicles is a paragon of efficiency by comparison.
Imagine if I told my boss the critical issue escalated by a major customer would be handled that same way…
There are a lot of bad software engineers but they tend to get weeded out since most are employees. Imagine paying them 2x-3x the amount with no direct managerial supervision and even more poorly informed customers. The name for this is “doctors”. The game is played by not trying to be great in medical practice - instead the strategy is only to be financially successful.
It goes wider than gender bias, also from Australia:
People with intellectual disability continue to receive substandard healthcare as program to train doctors risks closure
~ https://www.abc.net.au/news/2026-06-03/intellectual-disabili...
in which an above average fitness footballer with Downs Syndrome has a lung infection ignored by doctors.
Agreed. Disability, physical as well as intellectual. Age. Neuroatypicallity. The list goes on.
Honestly, I think when you're facing any sort of potentially serious health issue you need a wingman coming to the appointments with you. Someone who can hopefully be a little more emotionally removed. Who can ask the questions you didn't think of to make sure you've covered everything. Who you can debrief with afterwards to make sure you've taken in all the important information you were just scrambling to wrap your head around while you were in the room. And sometimes to argue on your behalf.
Done this with my kidult for most of their life, obviously. Did it with my dad's oncologist visits for prostate cancer. Had it myself with cancer and other times. You just need someone you trust in your corner when you're vulnerable.
> even living in a country with far better healthcare.
FYI I’m not American. Your medical misogyny comment is dead on, in my opinion. This sort of thing can happen anywhere.
Yep. Humans are gonna do human things anywhere you find them.
> FYI I’m not American.
Whoops. Guess that was an assumption on my part. Here I am, doing human things…
It's been super eye-opening to me as an adult how frequent misdiagnoses are. I understand it's good for a doctor to sound confident, but "confidently wrong" is imo much worse than "cautiously wrong". We really need better imaging/diagnostic tools that cut down on human bias; hoping for a star trek tricorder someday.
> It's been super eye-opening to me as an adult how frequent misdiagnoses are.
I was talking to a specialist in a field where a rare condition has started to trend on TikTok. It was also eye-opening to learn how much they're struggling under the weight of bad referrals for patients who don't have the condition they claim.
That's not to say they aren't sick. The patients are suffering from something. However between hours of TikTok and ChatGPT they can convince themselves they have a condition and learn how to convince their primary care doctor to put in the referral
This doesn't work as much for conditions that have objective criteria like blood tests, where it's easy to filter out the patients who have both negative blood tests and a PCP who hasn't tried to investigate other explanations.
An example of a popular self-diagnosis is MCAS: Mast Cell Activation Syndrome. MCAS specialists are overwhelmed by self-diagnosed patients trying to get appointments who have never even have a tryptase blood test. If you go on to any subreddit or forum for chronic health conditions you will find a large number of people there have been convinced they have MCAS, and new members are told they might have MCAS too.
This is creating a separate fatigue among providers who need to keep their guard up at all times so they can maintain focus on the patients who really have these conditions instead of letting their schedules get destroyed by patients who don't. It's a hard problem.
"This is creating a separate fatigue among providers who need to keep their guard up at all times so they can maintain focus on the patients who really have these conditions instead of letting their schedules get destroyed by patients who don't. It's a hard problem."
In your example of MCAS, the solutions seems simple, do a blood test first, before really involving the specialist?
It’s a little more difficult because the blood test is supposed to be performed during a flare up, so it can be negative in an MCAS case if given at the wrong time.
Primary care doctors don’t want to gate the diagnosis so they’ll send the referral over and hope that the specialist will do the work of filtering out the likely and unlikely cases.
The everything-is-MCAS people on the internet use the fact that it can be negative at times in MCAS patients as a wedge to justify ignoring negative test results. In practice it’s not that hard to give someone a standing order for the test and have them get the blood draw when their symptoms flare.
I know someone with what we thought was MCAS, but it actually ended up being Alpha-gal Syndrome. Knowing that made the whole thing much easier to deal with.
As someone who is currently going through the diagnostic process for MCAS with a specialist:
A negative Tryptase blood test doesn't mean you don't have it, it could just be that you're not having an active flare-up at the time. So they also prescribe high doses of H1 and H2 blockers and then you report whether symptoms have improved across 2 or more organ systems after a few weeks.
Not to be a capitalist about it, but given the US health care system, and the fact that there's a diagnostic test for it, that sounds like a business opportunity. Setup an intake website where the customer, err, patient, fills out their information, submits their insurance, and answers a questionnaire, and then the teledoc web portal system gives them lab work to do. Charge the patients for the privilege, and also charge the doctors to use this screening process.
> and also charge the doctors to use this screening process.
Why would a doctor pay another service to order labs for them?
Sadly there are a lot of clinics popping up to serve the internet self-diagnosers, but not in the way you're talking about. They're built around a single enterprising doctor who either believes the disease is undetectable by normal tests, or who is aware that they're stringing patients along but likes the money. If someone opens a specialty clinic for an internet-popular disorder, they have a perpetual line of patients who will gladly pay for a doctor to tell them what they want to hear.
I dunno, LifeBAC's a good example of something thats not really in line with what you mentioned but has good reason to exist given the typical relationship most people have with their drs
> Not to be a capitalist about it, but given the US health care system
Whats that supposed to mean? Most countries have private healthcare too. Sometimes it is as popular as public i.e. Australia 45% is private vs 55% in US.
In Australia, this is mostly because there are tax implications for not being a private health care member past the age of 31 when you earn over a certain amount. Our public system is great (and actually exists).
> In Australia, this is mostly because
it's an attempt to starve funding from the public system. (Howard was responsible for destroying the first universal healthcare system in australia before the later second attempt)
The private hospitals specialise in elective uncomplicated day ops because the returns from the medicare payment are better than complicated cases that get the same fixed payment. It's also why they transfer anything slightly complicated into public hospitals.
Yeah, I've had to fight to get medication that the doc insisted "doesn't work" - had to cite actual studies that showed blatant results showing effectiveness. The way society has this widespread "appeal to authority" built in around doctors drives me crazy, because they are treated as if they are the ultimate authority on health/medical, but are often woefully under-educated about specific subtle details that can end up being critical to the management/prognosis of a health issue.
I have a worsened lifelong issue because of repeated sub-optimal "solutions" to a problem, such that the best long-term solution was found by the THIRD doctor that looked at my problem. "Solutions" from the first two guaranteed my problem will forever be worse than it would have been (solely due to their treatments), if only the third doc's solution had been considered/presented first. Even worse, I was a teenager and young adult when dealing with the first two. My mistake for not doing my own comprehensive research, apparently -- the thing we entrust doctors to do for us...
The part that doctors see that individuals don't is the flood of people who are chronically freaking out over nothing.
There are going to be casualties of doctor's triage, and those stories will be beyond upsetting, but most would agree its better than an 8 month wait to get an MRI.
Right. For every example of a doctor missing a diagnosis, there 100 examples of that doctor correctly telling people that they are likely suffering from a temporary condition that will work itself out or not be resolved by any further testing or medicine.
All the more reason to have better diagnostic tools (not to mention faster imaging)! All humans are fallible; I hope one day diagnosis is the easiest part of a doctor's job.
You’re assuming a diagnostic test can be designed for 100% accuracy and this is not possible as disease states are spectrums not discrete categories.
“Normal ranges” in lab values are just confidence intervals of population means which by definition that some normal people will have abnormal values and some patients with a disease will have normal values.
The same is true for imaging. For example we use size criteria a lot. There is nothing different about 4.1 cm adrenal nodules and 3.9 cm nodules to explain why the former gets surgery and the latter gets called benign other than pre-test probability and acceptable false positive and false negative rates, whether this is measured by a human or AI.
Eventually, diagnostic systems (whether AI or human+AI) will significantly outperform current human doctors.
If humans have different normal ranges, then the tests will be specific to the individual, based on their health history, DNA, tissue simulation in digital environment, etc. If adrenal nodules of similar diameter behave differently, then the tests will inspect more than just diameter.
The data to make the correct diagnosis is out there, we just don't have the tools or processing power to use it yet.
You’re loosely alluding to personalized medicine but envisioning is a very futuristic state we are very slowly moving towards. What you suggest is great but we are a few decades and several technological breakthroughs as well as new discoveries away from coming to what you are talking.
DNA is increasingly used in oncology, but is difficult to interpret elsewhere and in many tumors is not insightful.
> The data to make the correct diagnosis is out there, we just don't have the tools or processing power to use it yet.
Maybe, but we don’t know what or how to measure it.
> If adrenal nodules of similar diameter behave differently, then the tests will inspect more than just diameter.
Everything investigated so far such as: biopsies with histology, MR spectroscopy and measuring the diffusivity of water molecules has not been reliable in differentiating benign or malignant nodules so we still use size. These are nontrivial problems. There are technical limitations to our measuring tools.
You do have to worry/wonder how many people are in psych hospitals, jail, or 6ft under when something like this might be the reason.
I had a much more common autoimmune disease, adult-onset Type 1 Diabetes (LADA), determined to be health anxiety by a very large, major renowned hospital who should have known better. It led to over a year of continued illness before finally I was diagnosed at an ER. I'm sure some people have psychosomatic or anxiety based illnesses, but it's rather grating to be told by a psychologist that you're worrying yourself to death when you are very, very sure that's not the issue.
How did it take a year to diagnose diabetes? Are there symptoms of Type 1 that aren't downstream of blood sugar? I, some chucklefuck with some first aid experience, can figure out if someone is hypo/hyperglycemic by smell.
LADA comes on slowly compared to regular juvenile onset type 1. With regular T1, you'll be in diabetic ketoacidosis and hospitalized within 3 months. LADA can take a year or two, sometimes even longer. I had Celiac diagnosed a year prior, and many of the symptoms seemed the same - fatigue after meals, heartburn, other digestive issues - and that confused things. Plus I had terrible medical care for the first 6 months while I was losing weight and wondering what was happening.
Adult onset. It can come on slowly (as in over the course of a year). And many downstream symptoms include mood changes. Hard to know it is blood sugar related if you don't test blood sugar levels.
Really glad you can smell it on people, smell is a powerful diagnostic tool that few people are trained on.
That’s the bit I don’t get: isn’t glucose testing by the health care system fairly common with any sort of “I don’t know what’s going on, let’s order some labs and see what comes back” screening/testing panel?
I was told I had 'prediabetes' and actually got my own glucose testing kit. It didn't seem far off at that time, though, possibly because I was having such a difficult time eating anything. I didn't really know what to look for, though. Glucose being above 100 when I woke up? Over 180 a couple hours after eating? I tested a lot but didn't have any doctor support or interpretation.
At the hospital, I saw a gastroenterologist who specialized in Celiac, because I had just been diagnosed with Celiac a year earlier and many of my symptoms seemed related to digestion. He absolutely should have done diabetes tests. On the last day of the 2 weeks I was there, he said "It could be type 1 diabetes... some people get that too" but didn't order any tests. When I was diagnosed at the ER another year later, my glucose was 650 (very high) and had been averaging 300 (it should be ~85). So yeah, the doctors were negligent, in my assessment.
OP mentioned being told he was just worrying by a psychiatrist. They're used to seeing all sorts of psychosomatic issues caused by stress and anxiety. The old 'think horses not zebras' puts blinders on, especially when there's also claims that the US health system over-tests for things.
I told my gastro that I was on a very restricted diet. I had lost a ton of weight from not being able to swallow food and though it was related to Celiac or food allergies, and they really didn't listen to what I was saying. The psychologist told me that I was "so worried about gluten that I was starving myself", which was quite offensive, actually. I had been in phsyical pain every day for months and went from 180 lbs to 120 (at 5'10") until I found a liquid diet that worked for me and regained weight. I had no idea carbohydrates were an issue.
It is such a standard panel its not funny. That said, a psychologist is not an MD and cannot order labs, typically.
It's common to get a spot/random glucose test as part of a metabolic panel, but not that common to get an A1C or certainly auto-antibody tests, in my experience.
A1c has become a lot more common over the last 20 years… adoption of new standards can take a while in healthcare, even stuff that has existed for a while
Once you have psych. diagnosis its over, doctors see you throught that lens. Ah yes, he has anxiety, of course his symptoms are psychosomatic and there is no need for more testing. My uncle was schizophrenic, medicated and living OK life after years and years of delusions. He also had untreated diabetes for years, but was on the right track. He went to doctor with pain in belly, they sent him home and told him nothing is wrong, couple days after he died from ruptured gallbladder...
What I learned is also that often doctors will shrug at an unclear illness, and wait for it to become severe enough that it's obvious. Once I had 650 glucose and a A1C of 12, they couldn't say it was just a psych problem.
Had a piece of my spine severed (tail bone and some above it) and was told it was all in my head.
Even the uncontrolled, daily falling.
It’s wild how much of a practice medicine is but people take the first diagnostic opinion because their profession
I honestly hate the US medical system for this. Basically you get scolded for not being proactive and ignoring symptoms, but if you are proactive and even slightly worried about something they treat you like a hypochondriac.
I practiced medicine in the U.S. and am now retired. This is such a complicated problem, not insoluble; and I would not want to explain away failures of the system.
I spent the majority of my career at a major tertiary referral center. One patient sent to me had all the signs and symptoms of Beçhet’s disease. To me it was obvious; but putting myself in the shoes of the rural primary care physician, who has never seen a case, I can imagine the constellation of presenting signs and symptoms would have been just a muddle. I can think of perhaps hundreds of similar cases.
I’m sure I missed important findings in my career. I know it. Much of what is missing nowadays is the time to listen deeply to what the patient is telling you and to think about it. If you have even rudimentary medical knowledge + time + humility and a willingness to constantly revisit the diagnosis, any doctor will do OK. But it’s a tall order in 2026. I’m grateful to have practiced at an institution that afforded me the time to listen and think. I gather that many physicians now are suffering from exhaustion of curiosity and maybe empathy.
This. Today, well-meaning doctors cannot spend more than 5-10 minutes between seeing patients. Medical shows on TV show teams of physicians working on one or two patients per week. The reality in my part of the world is that each doctor sees 10 or so patients each day, and are not available for phone calls. (Even in 2026 my parents can reach their doctors by phone, and they spend the time to chat. But they are in New York and I live in Florida. )
I have seen my current PC doctor for 25 years now and he knows me well enough to spot significant changes. But he's retiring in a few months and I have no idea how to find a new doctor. My current doctor has no recommendations for me. (I'm not asking here for any if that's what this sounds like.)
Pseudo-exhaustive knowledge disorder (PEKnoD) is a meta-psychosis that afflicts most medical professionals. It's a plague.
Ooof, really sorry to hear that. I'm glad she ultimately got the treatment she needed.
In my case, the misdiagnosis up front was entirely reasonable. (EDIT: Well, maybe not. See below.) The generalized anxiety disorder diagnosis from my PCP made a lot of sense given what was happening. I hadn't had delusions yet at that point. It was... a mixture of panic attacks, night sweats, jaw pain and a greatly increased level of anxiety compared to my baseline.
My PCP did run a bevy of tests (chest x-ray, and took tons of blood) to try and rule out anything biological.
Given what was known at the time, I think my PCP did the right thing. And when my symptoms really escalated (delusions, suicidal ideation, falling and hitting my head), my PCP suggested going to an ER. And that's what we did.
I think it was the ER that really dropped the ball. Given the sudden onset of everything, the fact that they didn't get me in front of a neurologist is, in retrospect, really quite baffling. That's when I went to a psychiatric hospital, where I spent 3 nights.
I only got out of that hospital due to total luck. My neighbor was old college buddies with a neurosurgeon. (We had no idea about it. It just came up randomly when my neighbor was dropping my son off at home for us.) That was the critical connection because he ended up talking to the neurology department at Brigham and Women's, then talked to the psychiatric hospital and was the one who facilitated my transfer.
My wife tried to do it on her own but they wouldn't allow it because I had been medically cleared. She had to give 3 days notice to pull me out. Or otherwise, by default, I would see a neurologist after 2 weeks. According to the psychiatric facility.
I really don't know if I would have made it that long. The encephalitis wouldn't have killed me in that span of time, but I was in an extremely dark place.
I'm also really lucky that this is an autoimmune disorder that has a pretty objective diagnostic criteria: a positive antibody test in your cerebral spinal fluid. You "just: need to have your spine tapped to get that though. Fun times.
Absolutely not to defend what happened but that GAD diagnosis sets in motion the anchoring, because now you have an “established” (and recent) psychiatric diagnosis and it’s all too common that an ED is going to heavily prioritize this as a progression. EDs are just very bad in general about reconsidering a differential for a (new) chronic condition unless it’s flashing like a neon sign, especially when there is an easy enough dispo to reach for, transfer to psych in this case. But even worse, you already had an extensive outpatient workup to hang their hat on. From the history provided the history of a fall is the only thing mentioned that sounded like a slam dunk brewing neurological deficit, and it is not very specific, half the ED are people that fell. I’m sure you’ve read the MDM portion of the ED note, it may or may not give some idea of why neurological conditions were dismissed. Very unfortunate.
That is an interesting take that I hadn't thought of. Thank you for that perspective.
I actually haven't been able to get the ED notes from that first ER visit yet. They are in a different system than Brigham and Women's, which made it super easy to read notes in their app.
Hey sushi, we've chit chatted before but I'll stay anonymous here.
So you have had a life changing experience. I am really sorry for all the pain and fear this has caused you and your family. Iv ig is a miracle for autoimmune trainwrecks. It saved one of my loved ones lives too. I am so glad you are still here with us.
I know nothing about your recent reality. I can tell you this. Psychosis, immense fear, and near death experiences aren't something to brush off. Perhaps best not dwelled on, but I hope you either stay in therapy or begin therapy with someone who understands trauma. Not to discuss it as trauma, but to keep tabs.
You may be good to work! Good to be a kick ass dad! But if there are things you haven't dealt with here they may rear their head at a random inconvenient time down the road. Maybe you are all good, I bet you are. But please remember to take care of your mind.
Wishing you and your family the best. Stay well!
Good they eventually found out... Falling doesn't feel like some psychiatric disorder: I know someone who fell because he threw himself out of the window and that was due to him being nuts. Now I'm not a doctor: maybe someone with psychiatric disorder can just fall out of crazyness but that just sounds weird.
Be well mate.
I've heard so many stories, and have had so much recent close experience of those stories not ending on a high note. It's nice to hear that Burnt Sushi's and your wife's experience do sometimes end in a very positive way.
> I’m not entirely sure why I’m mentioning this, other than I sympathize deeply with your wife.
Reminder that he is the one who is ill, not his wife.
One thing that may be intriguing is that this is a relatively new diagnosis (first described in 2007).
There's so much medicine to discover and we need to keep supporting a biomedical research enterprise that can find reversible treatments to disorders that would otherwise be difficult to treat (his symptoms, for example, would be thought of as a schizophrenia manifestation in another era)
https://pmc.ncbi.nlm.nih.gov/articles/PMC2607118/
Yes, the biomedical world needs to go through the same boom that tech went through in the last 20 years.
The problem is accessibility. Tech grew largely because of how accessible the technology is. Biomedical research is still very difficult to get into, and as a result seriously curtails the potential progress we as a society could make.
I don't know what the solution is but there's got to be an easier way to tinker, test, explore, and play around with biomedical things (cells, viruses, etc.).
Ideally it would be a purely software world where we replicate everything down to the DNA level so that you can test and play around with potential solutions...
> Yes, the biomedical world needs to go through the same boom that tech went through in the last 20 years.
Why do you think that isn’t happening? So many comments here make broad claims about fields where the poster isn’t familiar. Being a programmer does not make one knowledgeable about other specialized fields
Biomedical research in the US has taken an absolute nose-dive several times over the past decade or two. This was my field for the past 20 years, so I'm fairly familiar.
It requires enormous capital investment and a very, very long time to turn out meaningful results, so it's only available to those with corporate-depth pockets or government subsidies. It also requires a broad and deep skill set.
With the FDA, USDA, NIH, CDC and DoEd all being gutted, the subsidies are gone. Academia can no longer support a huge swath of biomedical research.
> Being a programmer does not make one knowledgeable about other specialized fields
If I could make every HN user read this before commenting on literally any article...
I agree that being a programmer doesn't make you an expert at everything, but OP brought up a good point. Tech is a lot more accessible than other fields. It would be nice if I could pivot into other fields as easily as someone could pivot into tech.
Aside from going to college for many years, there's really no other way to break into the medical field. College is expensive and quite daunting to many (myself included), which is a shame because I'd really like to contribute more to humanity than moving pixels around on a screen and helping businesses with their data problems.
The reason you can ‘pivot’ into tech is because you’re able to run programs and see their output on your own device.
You can do some data-oriented research at home, though you’d also have a lot of reading to do first.
Medicine requires seeing patients and their ailments and their recovery - not something we’ll ever be able to simulate well (for many reasons).
You can get a good medical education all online, but nobody will accept you’re not having seen patients
A big reason is clinical trials. They take time, they are expensive, and there isn’t another good way to determine an intervention’s safety and effectiveness.
> Yes, the biomedical world needs to go through the same boom that tech went through in the last 20 years
We are going through one right now, just not so visibly. Many forms of cancer that would have killed you quickly at the turn of the century are now controllable, if not treatable. Coming up with a safe and working vaccine for a novel virus just a year after it emerges would be unthinkable 20 years ago. HIV went from a nasty death sentence to something you take one pill a day to keep control of within my lifetime.
We just don't like to talk about it because we don't like to talk about death and life stuffs.
What is funny about this accessibility and regulation point of view is I remember around 2021 and 2022 there is a hive mind of tech people who were paranoid about all the novel virus research, "gain of function" shit and want to preemptively ban it all. The same people who decry any regulation imposed on tech. Go figure.
"the biomedical world needs to go through the same boom that tech went through in the last 20 years."
Not going to happen with all the regulation. Plus, I think half of us techies got into it for games and boobs (bypass parental controls). Not a lot of that same adolescent motivation in that field.
Yeah, but the culture surrounding computers now isn't the same as when whenever you grew up. The last few decades of tech didn't have ChatGPT to contend with. These days, going into medicine looks a lot more future proof than getting a CS degree.
The human body is much more complex than any software system devised to this date.
We don’t have good ways to even start thinking about such simulations.
Man's best friend is the best friend to experiment on (instead of humans). Working mRNA cancer vaccine.
https://people.com/tech-pro-uses-chatgpt-to-create-cancer-va...
What's happened in software / computing in the last 20 years that's good? Imo it could be argued that overall the user experience has gotten worse. Dead internet theory, enshittification.
* The web is pretty much dead. Time Berners Lee's ideals certainly are.
* Computing is dominated by completely evil megacorps.
* They are making a concerted effort to make people as tech-illiterate as possible and also make universal computing illegal.
* Theres been years where GPU's were being price gouged, 1st by crypto bros, then NFT bros, now LLM bros.
* Cant even buy RAM now.
* They put e-fuses into hardware now, comes right out of the factory as ready made e-waste that cant be repurposed.
* The biggest platforms, Android and iOS, are walled garden, locked down, corporate nightmare worlds. And there is practically no alternative.
* Social media is making people depressed and also very easy to manipulate en-masse by anyone willing to pay.
* Moore's law stopped and software bloat overtook performance gains.
* VR might have been cool but it was pre-enshittified in its nascent stages. Freakin' facebook bought Oculus before they had released a single headset.
There's a lot of bleak things for sure.
Linux has come a long way Valve's efforts with Proton/Linux Gaming
Yeah that is good, there are some good things, but I think on average the computer user experience is worse.. In the 80's and 90's with the rise of microcomputers and the net and the web and Linux, things were so utopian, things just seemed to keep getting cooler and computing was empowering people.
That was the cool part of "the cycle". We are defo in the shit part now. https://www.goodreads.com/book/show/8201080-the-master-switc...
Very rare disease, expected to be misdiagnosed as psychiatric. I admit I would (neurologist here) But you were luckily treated by an excellent neurologic center.
The lesson learned is that there are rare diseases (<1/10.000-100.000) but as they are so many, they form an important minority next to common ones (1/100-1000). Just don't forget them when data don't fit well. Such estimations is a hard dexterity of doctors that cannot be rivalled by AI.
I asked my wife about it since she has more context on the chance encounter with a neurosurgeon who was ultimately responsible for the transfer into Brigham and Women's. She said there were two things of note that led the neurosurgeon to step in (according to the neurosurgeon):
Decompensating at an increasing and alarming rate, not typical from a psych perspective. Also not in a healthy young male with no history. My wife was able to substantiate this claim with my detailed timeline. (I had some emails and wrote a lot of stuff down, as is my nature, during this time.)
My left eye was "squinty."
> My wife was able to substantiate this claim with my detailed timeline.
Sorry, my bad here. The timeline wasn't mine. It was Kait who had built it and took on the burden of sharing it with everyone she possibly could.
Psychiatrists are tourist guides for the Paris catacombs who try to get around using an underground map.
When you do cluster analysis of the symptoms of psychiatric patients, the empirical clusters don't match the DSM entries.
Schizophrenia is at least 8 distinct diseases (see GWAS), so orphaned that they don't have a name.
Psychiatry is an epistemic mess, and medicine uses it as a garbage bin for the patients it doesn't understand (because blissful ignorance is the norm over there).
I don't mean direct this specifically at you, but aren't there databases that can look up diseases by symptoms? Are doctors not trained to consult those, maybe after ruling out common causes? Why is forgetting relevant in this context?
I'm asking because I've had frequent encounters with doctors whose process seems to be, literally, "remember if there's anything like the described symptoms that I learned in medical school" which, if they were somewhat older, was probably 30+ years ago.
After my abnormal brain MRIs, my understanding is that the diagnosis came down to either some kind of encephalitis or multiple sclerosis. But test results have to come back first. I was even set up with a follow-up with an MS specialist. Once my anti-NMDA receptor encephalitis test came back positive though, that follow-up got cancelled and replaced with a neuro-immunologist that specializes in these sorts of things.
And even if I did have an MS, there are various sub-types that require going through something quite complicated call the McDonald criteria: https://en.wikipedia.org/wiki/Diagnosis_of_multiple_sclerosi...
Holy hell. Those symptoms, that clinical experience, that had to have been completely terrifying. Very glad you're on the mend, and that you got a straightforward (if weird) diagnosis.
Wow.
Thank you for the kind words. :-) <3
What an ordeal, this stuff really scares me, like the post about the Gitlab founder having to diagnose and treat himself. Great to hear you are recovering. If you find yourself in Cambridge I will gladly buy you a beer for how much rg has helped me.
<3
This sounds horrifying. It’s one of those stories that makes me think in just how many ways our bodies or minds can break or malfunction in terrifying ways. Any one of us could, right now, carry a lethal tumor that hasn’t been discovered.
Best of luck to you, and get well. I’m glad it didn’t get even worse before it was treated.
CDC mortality tables [1] are kind of eye opening for those who don't realize how brief life is. Average age range on HN is probably in the 25-44 year old bracket. That bracket has an approximate mortality rate of 140/100k per year. HN has what, 5 million or so monthly users? So that means of all of 'us', it's expected that around 7,000 HN readers age 25-44, die each year. That's fairly close to 1 death per hour.
[1] - https://www.cdc.gov/nchs/data/dvs/MortFinal2007_Worktable23r...
Your CDC figure is an average over all genders. Assuming hacker news readers are disproportionately men, the mortality rate is even higher, since men die younger than women on average.
On the other hand, my guess is that male HN readers are not a very representative sample in this respect. That is, they (we) are significantly less likely than average to engage in the type of risky behaviors that mostly explain the gender disparity.
The difference is mostly heart disease not "risky behavior".
If anything the average software engineer is more likely to die of heart disease due to our sedentary lifestyles.
Sitting on chairs is the real "risky behavior" in terms of health, although few people think of it that way.
I wasn’t aware of the degree of disparity in early-onset ischemic heart disease, thanks. But it doesn’t seem to me it’s "mostly heart disease rather than risky behavior", more like those are both major causes of excess mortality among young men.
Are you aware of any distinction between extensive sitting vs extensive reclining like on a divan?
My intution is there is a distinction besides the fact both are sedate behaviors
A lot of gender disparity is cardiovascular disease being 50% more likely to be diagnosed in men than in women of same age, so not directly related to risky behavior.
Wow I need to stop browsing HN
Wow, it's crazy that some states have over 2x the mortality rate of others. Also pretty striking how quickly mortality increases with age even at "young" ages.
> HN has what, 5 million or so monthly users?
This seems remarkably high.
>it's expected that around 7,000 HN readers age 25-44, die each year
That's not true unless HN readers are a representative sample of the overall 25-44 population, which they aren't. Higher-income/SES is associated with a lower mortality rate than the overall population average.
These sort of factors all have a relatively small impact. For instance, to take it to the ridiculous extreme, billionaires live about 10 years longer than average. That sounds like a lot, but it's "only" about 10-15%. So instead of the conclusion being ~7000 dying each year, it might "only" be 6000 or whatever. It's largely inconsequential to the point. And as another point mentioned we're going to skew male which brings our life expectancy significantly lower, and probably goes a long way towards balancing out whatever socioeconomic advantage that may exist.
Whatever the exact number may be 7000 is going to be a pretty reasonable ballpark, and it's certainly orders of magnitude higher than most people would expect.
>That's not true unless HN readers are a representative sample of the overall 25-44 population, which they aren't. Higher-income/SES is associated with a lower mortality rate than the overall population average.
7K/year is for the healthy, affluent, tech-worker-heavy population already. For the general population, US, is ~ 12K/year.
Not that higher-income/SES is necessarily representative in a supposed 5m strong HN readership - it would be all kinds, from all around the world. SV startup / FAANG types are just a small slice.
When you look at how molecules like RNA work, and krebs cycle, and the billions of cells we are composed of, and so on, it always strikes me as astronomically lucky that we function at all. Like how can this assemblage of Rube Goldberg machines function for more than 1 seconds without catastrophically falling apart?
I think multicellular creatures on earth are just so complex they are basically ineffable.. We can understand certain general principles and statistical trends, but the entire system holistically is incomprehensible for a human level intelligence.
Kind of analogous to ML, we absolutely understand how each neuron works, we built them! But we often dont really understand how the resulting model works.
Hey Andrew, I've been an admirer of your work for a long time. Sounds awful, glad you are on the mend.
I can't begin to imagine the pain and stress caused by those symptoms, but I am so very happy to hear the prognosis is quite good. A linked scientific article makes the case that this is a very new diagnosis, and increased awareness might help a lot of people, so if you are reading this burntsushi, thanks for being open about something deeply personal, I hope I would have had the courage to do so myself.
Thank you. <3
There were lots of reasons that went into me posting this.
First and foremost is that this is a disease of chaos that is prone to misdiagnosis. I want to shout this from the roof tops to spread awareness. I don't have a ton of reach, but I have some, and I want to use it to amplify things like this.
Second is that I'm somewhat naturally open about these sorts of things.
Third is I feel a responsibility to my projects and users.
Fourthly is that it's just practically useful to have a link to send to someone when I reference this time period in my life. :-)
> very new diagnosis
Yes! Discovered in 2007. Wild.
> so if you are reading this burntsushi, thanks for being open about something deeply personal, I hope I would have had the courage to do so myself.
<3 <3 <3
> Third is I feel a responsibility to my projects and users.
I feel like this should be a bit of a two way street. Is there anything we can be doing for you?
I see there's an option for GitHub sponsorship, would that still be your preference?
Honestly I think just a heap of patience while I catch up with a couple months of doing essentially zero work. That would be the best.
I can only speak for myself, but I'm just glad you're still a member of these communities. Take care of yourself, and I look forward to many more years of learning from your code!
My wife had anti-NMDA negative Encephalitis two years ago after suffering severe seizures out of the blue - her diagnosis in retrospect is NORSE (new onset refractory status epilepticus). She was put into an induced coma for 2 months, it took a long time before they realised it was encephalitis. Whilst she survived, her recovery is still ongoing. She was 32 when it happened and will never work again due to her brain injury and ongoing epilepsy.
Oh my, I'm so sorry to hear that. She'll be in my thoughts.
@burntsushi thanks for sharing this. A few of the symptoms you described felt painfully familiar to my aunt who's still undergoing AE treatment and is deteriorating after a short recovery.
She's 59y.o. living in the Philippines and was recently diagnosed with autoimmune encephalitis after initially being misdiagnosed as having a mild stroke and later psychosis. She had balance problems and fell down while sweeping the floor. She developed language problems. So she knew what she wanted to say but couldn't get the words out. My mom and I thought it was mild stroke. Over the following weeks she developed seizures, required a feeding tube and ventilator support, and is currently undergoing treatment in Cebu Doctor's Hospital, Philippines.
If anyone here has experience with autoimmune encephalitis, patient advocacy groups, research programs, financial assistance resources, or treatment centers that might be helpful, I would be grateful for any suggestions.
My family has also put together a fundraiser to help cover her ongoing treatment costs if anyone would like to learn more. We'll provide weekly updates and full transparency. Mods, I hope you allow this link: https://www.gofundme.com/f/help-save-rowenas-life-from-autoi...
If not, my email is in my profile and you can DM me. I can't post pictures of her with her current state because I don't have consent. The one picture I have of her current state is also censored.
Your profile seems empty. I'd be happy to reach out privately if you can provide a way to do it. :-)
Best of luck mate. Most of us take our health for granted.
Thank you. <3
It's been a trip. The worst thing that has happened, but also the best. It has definitely given me a new perspective on life, that's for sure.
My favorite side effect is that I now love all foods. Prior to this, I was a rather picky eater. Now I love everything!
> My favorite side effect is that I now love all foods. Prior to this, I was a rather picky eater. Now I love everything!
I feel like there's a burntsushi joke hiding in there somewhere.
All the best Andrew.
There is actually haha. I've always hated sushi. And sushi is now on my shortlist to try again. I can't wait.
(My handle comes from graffiti I found on the booth of a hot dog stand in Worcester MA called Coney Island[1]. I thought it was a cute oxymoron and adopted it on a silly whim. I only later learned that some sushi is indeed cooked.)
[1]: https://coneyislandlunch.com/
Man, the origin of your screen name is the same level of lore as Rust being named after fungi, and not corrosion. Love it! Glad you're in better health again. Been using your software for nearly 10 years spanning before and after my career started. Thanks for all the work you do in open source.
Cheers
Wow! Great to see Coney Island is still there.. I was last there ca. 2007.. Also that's an awesome origin story for your internet handle.
Yes! I just took my son there for the first time a few months ago (before the encephalitis hit).
I've had some experience with situations like what you experienced in my family, and I just want to say how glad I am to hear that you had people in your corner to help you out when you needed it the most.
That maybe the steroids I'd imagine!
NMDA receptor encephalitis is usually associated with a particular ovarian tumor, so the first thing I did on seeing this article was to check if the author is male or female (he's male). It is the habit of certain cancers to present with bizarre symptoms (so-called paraneoplastic syndromes) including psychosis as in this case, and often it can be months before someone thinks to look for cancer. I'm glad the author's okay.
Yes! No tumor. I've had a PET scan and a testicular ultrasound. I think that puts me in the idiopathic category for this particular case.
The thing with all these autoimmune diseases: they have the same foundational problem. Their is something in the blood that doesn’t belong there and it resembles some part/cell of our body. Our body builds white blood cells to destroy this thing and inadvertently destroys part of the body. The important questions: what is it and how is it getting into the blood?
The most likely way it gets into the blood is through the digestive track. Some possible mechanisms: 1. Some detergent or similar chemical (e.g. PFAS is a solvent) dissolves the food (or the oil carrying the food) into water. The stomach pulls water back into the blood stream, bringing dissolved things with it. 2. There is some damage to the stomach or intestinal lining, stemming from physical injury, things getting stuck (lack of fiber), acid damage, some other chemical destroying mucus lining, etc. 3. You also have some autoimmune damage on your intestines. 4. You eat certain foods that require a symbiotic digestion with gut bacteria, but lack that bacteria or have killed it with eating preservatives or pesticides or artificial sweeteners, etc. The undigested food makes it to the larger absorption holes at the end of the intestinal run.
It’s also possible that a brain injury caused some brain cells to end up in the blood stream. Normally, though, the body has a mechanism to avoid attacking its own cells, the CD47 mechanism. Maybe that can become damaged or malnourished in some way. I’m sure that there’s a host of other things that can go wrong with that.
You write all these so confidently I hope you are ready for your nobel prize
> Their is something
It’s fortunate that you can’t properly spell basic medical terms so that nobody will mistake this for professional advice from a knowledgeable source.
You know, my first reaction after reading this was to appraise the quality of your writing, which convinced me your brain recovered.
Wishing you health, of course. The world is better with you in it.
During the thick of it, I could barely write at all. Physically as well. It was physically difficult to make the letters and others had a lot of trouble reading what I wrote. (Which was especially annoying when I had to fill out consent forms for my therapist!) Just the simple task of: 1) reading them, 2) signing them, 3) scanning them and 4) sending them back to her was incredibly difficult for me to do.
I have since been scanning documents like a boss. Lol.
It's nice to see peoples' success stories with diagnoses. I've been suffering from something for more than 20 years now. I was healthy until 2005. Then it seemed like I got sick with some kind of virus and just... never got better. I have unpredictable good stretches and bad stretches. During my bad stretches I can't get out of bed. I've mostly given up on the idea of a diagnosis myself, after seeing dozens of doctors over the years, with the most positive interactions being Stanford researchers telling me I'm a really "interesting" case.
I've seen that happen with Lyme Disease, and with Mono. Autoimmune disorders are notoriously difficult to diagnose.
In the 1980s, AIDS was like that. All these healthy, young people, just started getting these diverse horrorshow problems, then died.
Sorry to hear this, thank you for publishing your account.
I first found you years ago from your nfldb project: https://github.com/BurntSushi/nfldb and since then have used xsv and ripgrep.
Also, thank you for participating in the clinical trial. I pivoted my tech career several years ago to focus on that industry (the tech isn't great, I'm trying to help that). Along the way I've learned how important it is to participate in this research, it makes a massive difference so thank you.
I came here to say nearly the same. I used xsv SO MUCH at my last job, because the intermediate format of everything in the particular project was CSV, and I just could plow through everything using it. And of course BurntSushi/toml is in various go projects I have worked on.
I'm glad that get to carry on doing whatever makes you happy, and for your whole family.
Wow, nfldb. Old school. Good times. I had so much fun with that project and the community of users.
Yeah, almost pivoted to fantasy sports! Clinical trials are more interesting :)
Glad he had connections to get out of the psychiatric institution. Thinking of all the unfortunate people without the means being incarcerated there with their misdiagnosis, getting put down with antipsychotics
I'm very lucky to have had that connection. I didn't even know I had it until it was there. So I'm lucky on another level there too.
I was put on a low dose of an anti-psychotic. I am in fact still on it. We just haven't gotten to tapering off of it yet. (Other medications have taken higher priority.) Tapering off all of my medications, which is the goal, will take quite some time.
In the moment, I very much welcomed the anti-psychotic. I would do anything to fix what was wrong with me. The problem is that the front-line treatment for anti-NMDA receptor encephalitis (IVIG and steroids) takes a minute to kick in. Moreover, you don't have the diagnosis until later. There was a point in time, before the positive CSF antibody test but after the abnormal MRIs, where multiple sclerosis was a possible diagnosis.
In any case, once I got out of the psychiatric hospital and into Brigham and Women's, an MRI is indeed what I had right away. And that's when the brain lesion was found. But! Not all cases of anti-NMDA receptor encephalitis have an abnormal MRI. Susannah Cahalan, for example, had two normal MRIs. Brain inflammation was only detected indirectly at first because of the "clock test"[1]. And they later did a biopsy on her brain to confirm.
In retrospect, yes. I think I could have done a better job of advocating for myself on my first ER visit and demanded to see a neurologist. But I didn't know what I didn't know, unfortunately.
[1]: https://www.encephalitis.info/news/brain-on-fire-susannahs-r...
Intriguing... "After months of misdiagnoses Dr Souhel Najjar, employs a test asking Susannah to draw a clock. Instead of the customary clock face, her condition led her to draw all the numbers 1 through 12 on the right side of the clock. This was the breakthrough moment; it was this clock drawing that enabled Dr Najjar to understand that the right side of Susannah’s brain was inflamed, further test revealed this inflammation was a result of anti-NMDA receptor encephalitis, initiating her path to recovery"
I wonder how close this disease, and the similar ones in the comments, are to a general 'chronic fatigue sydnrome' diagnosis is. Which I've been dealing with for a decade. Definitely a strong autoimmune component to it...
In case this might resonate with someone but from the 100s of tests i've done, the most significant result for me was a 5x normal renin, which led me to eventually try fludrocortisone, the first time i finally felt 100% relief but only for a couple of days before sliding back into fatigue...
Count yourself incredibly lucky OP that you both got a diagnosis and also have such support around you. It's tough out here
A decade of dealing with CFS sounds like absolute hell.
I saw a close friend decline from a 90%-ile athlete to having trouble getting out of bed within a span of 2 months, and it was heartbreaking. This is someone I looked up to in the gym, went climbing with, went on hikes with. Living in Spain, he did have a hard time getting a proper diagnosis, with doctors eventually settling on ME/CFS. It's been 2 years now and he is slowly on his way back to being functional; went back to his job and he can even do light exercise once a week now.
I am going to ask him if he was prescribed corticosteroids as part of his regime. I do remember during his early tests (I know because I accompanied him) that he did test positive for Mononucleosis antibodies, but he doesn't remember showing any symptoms at that time.
Thanks man, yea I also have mononucleosis antibodies which I think caused it (EBV IgG and IgM) which I think was the trigger for me (Glandular fever). Seems like that virus in particular lingers and reactivates in many people.
My current line of research is into treatment for that, I've tried all the usual antivirals but they don't do much, but there's several new actual vaccines being developed which I'm trying to get into the trials for (in Australia).
Would be keen to know more about his story, thank you
Just sent him this thread!
> Seems like that virus in particular lingers and reactivates in many people.
Scary cuz it spreads from kissing / sharing fluid containers :O
The first thing I would do with any sort of weird issue remotely associated with my brain is to get an MRI. I would pay for it out of pocket if my doctor denied it or said it was psychiatric. Trust no doctor 100%, especially when they dismiss your symptoms as hormonal or psychiatric or anything else that doesn't go through a thorough examination with all available technology.
This is where AI like ChatGPT shine because they won't just dismiss you.
Not sure why this was down voted but there's truth to this.
I quit an SNRI antidepressant twelve years ago and for ten years I had horrible migraines, inability to form sentences, constant anxiety, low motivation, and other symptoms. Doctors just diagnosed it as depression and me having problems.
I knew something was wrong and I suspected it had to do with withdrawal from my old antidepressant. I read online and found others saying something similar. Gemini was able to help me confirm with and provide resources from specialists about this because the average psychiatrist knows nothing about this.
Finally I had a name for my issue-- protracted SNRI withdrawal syndrome. Trying to get off the medication too quick put me into some kind of continuous withdrawal. After confirming this I got back on the old medication and slowly reduced the dose this time.. I feel better than I have in 10 years.
Doctors still don't understand it and sometimes when I mention it to one(I have a few in my family)they just say "that's not supposed to happen". Never put your health solely in another person's hands. Utilize every resource available to you, even the most educated doctor in the world cannot know all there is to know about their field
The human body is an incredibly complex machine. The doctor may be an expert with particular conditions, but at the end of the day, you are the #1 world-leading expert when it comes to your own body. You're the only one who knows what's normal and what's abnormal and to what extent.
I went to see an eye specialist recently for vision problems, and that was the first thing she did - sent me for an MRI of my brain. First time in a wub-wub-wub machine, that was an experience!
(It took two months for my MRI appointment, but hey at least it was free, thanks Australia?)
NMDA receptors, and their modulators like Sarcosine and Glycine, have been a topic of interest of mine, specifically regarding schizophrenia.
I have a blog post compiling all my research here:
https://www.howonplanetearth.com/nmda-receptor/
> Thank you to my friends, family and doctors as well. Their support during this time was unwavering and I’m not sure what would have happened without them. “Nothing good” is what a nurse said when I posed that question to her.
I've always been told (and this has been true over the 4 or 5 times I've been hospitalized in my life) that having someone there for you, to support you and also to serve as your 'patient advocate' (so helping making sure all of the questions are asked of the doctors and stuff like that) has a definite positive effect on medical outcomes. In my cases, it was my family filling this role.
I whis you the best, you teached me a lot with your blog posts and code, and your software had an impact in how I use computers. You are probably the only developer alongside Torvalds that my wife knows by name (well, nickname) since whenever you do something cool I feel the urge to share my excitement with her
Andrew is truly such an inspiration. For him to have been still delivering for the open source community during all this really goes to show that you never know what someone else is dealing with.
>It all started with flu-like symptoms: heart racing, night sweats, the chills and trouble sleeping. But no congestion or cough. I also felt really off mentally. A deep sort of anxiety, along with panic attacks, that I had never experienced before in my 38 years of life. It was terrifying, especially because I had no idea what was causing it. There were no life events or obvious triggers that precipitated the psychological symptoms, nor was there any obvious biological explanation for the physical symptoms at the time. This was only the beginning.
Interesting, I had similar symptoms 5 years ago, including trouble swallowing which in itself induced a sort of panic. Also, I have experienced 6 "attacks" (not sure whether a panic attack is the right name) in two days, that felt like all my limbs were numb (with that tingling feeling you get when you keep your limb in an awkward position for too long) and tightly wrapped in duct tape, accompanied by rapid breathing, fast heart rate and dizzy vision. I wasn't diagnosed with anything specific and it went away on its own, but later the same year I started feeling occasional heart flutters as if my heart was going to jump out of my chest. Got tested and was diagnosed with a 2nd degree AV block. To this day, I have no idea what caused this and whether the two events were even related. Life can slap any one of us in the face in countless ways. Creatively vicious.
Glad your prognosis is quite good. Wishing you a fast and full recovery.
What BurntSushi said regarding these things being very nonspecific is absolutely true here.
E.g. Multiple Sclerosis can very well fit what you're describing, too. Commonly, there's a flare-up (we commonly use the term "attack" funilly enough)of some neurological symptoms (numb limbs, tingliness, diziness, vision issues are very common) that can last a few days/weeks and then mostly or completely subsides (until the next time).
Absolutely not suggesting that's what it was, just that it is what it could be too (or many other things — auto-immune diseases in particular can be really broad and nasty).
Sushi, I'm so glad you're doing better. Some of what you said (including just writing about it for awareness and sharing) resonates with my MS experience. I'm sorry you've experienced this and I hope things will keep looking up! <3
Thank you. :-)
And yes, at one point, the doctors said I almost certainly had MS. For exactly the reasons you stated: my symptoms were consistent with it. It was only when the antibody in my cerebral spinal fluid came back positive that my diagnosis shifted to anti-NMDA receptor encephalitis for certain. Prior to that, I already had a follow-up scheduled with an MS specialist. I'm guessing that was done because of how rare anti-NMDA receptor encephalitis is.
See also: https://news.ycombinator.com/item?id=48400955
Yep. It's really fascinating. MS is much more common (and well-known) so even though the diagnostic criteria can get quite complex (because you have to eliminate any other potential case), it's a well-trodden path.
So it's great that with anti-NMDA there is an actual singular test to determine this, but given it's so rare and little-known, getting to that point is very much not given :-(.
Thank you for the kind words.
Trouble swallowing, jaw pain, dizziness, double vision (and more) were all things I experienced as well. At one point, my left eye was dropping significantly.
Not to say you had or have what I have. The symptoms are very non-specific.
> [...] Since I had been cleared physically, getting out of the psychiatric hospital quickly to see a neurologist proved difficult. This was the single point, in retrospect, where our health care system let me down. It took a lucky connection with someone who happened to be a doctor to get me out of the psychiatric facility and into the neurology department at Brigham and Women’s Hospital in Boston.
That sounds scary. As someone without any experience with psychiatric institutions or the US health system, I'm curious what people's views are on this.
Won't weigh in on psychiatric care, but I will say from experience that everyone should look into both an advanced healthcare directive and an advanced psychiatric care directive: these are documents that authorize someone else to have input into your care if you are unable to do so yourself. Psychiatric care is considered separately so even though a medical health directive was in place we were stuck and could not have input into care even though we tried. Set this up before needed because in an emergency it may be too late and care providers are limited in what they can say and what they will do without that.
Consult a lawyer. Participating locations only. etc. etc.
We did at least have a health care proxy and a power of attorney in hand.
Funny story (that I didn't include in the blog) is that I actually wound up in a psychiatric facility for a second time after I was in-and-out of Brigham and Women's on 3 separate occasions. I was in a much better state mentally and physically, and this particular facility (McLean Hospital) was way better than the first one I was in. The circumstances were different and I was happy to be there because things were still very rocky at home. And very dark. So my wife and I felt it better that I be in an in-patient facility at this point, which came right before my official anti-NMDA receptor encephalitis diagnosis.
Anyway, the funny story is that I showed up to McLean, after being transferred from Brigham and Women's, with a physical copy of my wife's PoA over me and a health care proxy. The charge nurse said it was the first time he had ever seen anything like that before.
Oh dear! Medical issues are scary enough without all the red tape (has to be a better word than that) getting in the way of good care. Spreading the word in the hopes that it is more common and fewer people are left out
Thanks for sharing the story so openly! Sorry for everything you went through to get a proper diagnosis and treatment and for everything that the encephalitis itself inflicted on you. Glad you're doing better!
if you ever want to read what happens when your brain breaks and you don't have a neurologists number in your back pocket , feel free to peruse the subreddit r/antipsychiatry
Back in 2007, I was diagnosed with Churg-Strauss syndrome, renamed to the pithy Eosinophilic Granulomatosis with Polyangiitis (EGPA). It affects about 3 out of every 100,000 people, so rare. At the ER, I was told maybe I had tuberculosis. Then they thought it could be cancer. Then they thought maybe HIV. A few weeks later after being hospitalized because it had become progressively worse a pulmonologist correctly diagnosed it. Autoimmune diseases seem notoriously hard to pinpoint. Churg Strauss is a syndrome, meaning it's a constellation of symptoms. Some organs were permanently damaged, but I'm doing well and haven't had anymore flare ups. Glad this author shared his experience and that he's doing better.
His manager deserves the thank you. If someone started exhibiting the issues described in this post at any of my employers past and present, I suspect they would figure out how to get rid of them.
A thousand times over. I feel really lucky to work for Charlie. :-)
I'm glad you got diagnosed and the treatment is working. Sending you virtual hugs!
Really glad you finally got a correct diagnosis, and thank you for the tools/utilities you've contributed.
My early rust skills benefitted significantly from having read your code!
Good luck and good health.
Horrible to hear this news. Neurological diseases are the worst because we understand so little about them and usually there is no cure, just management.
What have your experiences been with using AI for medical advice? Especially for such rare diseases I suspect that very little shows up in the training data. Personally I'm using AI only for work and only recently started using it for non-work non-coding stuff too.
> What have your experiences been with using AI for medical advice?
I had been trying to use Gemini during my bout of encephalitis before treatment. I wasn't really trying to diagnose myself, but instead, was looking up side effects of the various (psychiatric) medications I was on. At the time, I (but not my wife) had thought all biological causes had been ruled out due to testing from my PCP. To be clear, I wasn't really in my right mind, so whether this was a reasonable belief or not (likely not) isn't something to be assumed. Like, I just thought I had GAD. Or OCD. Or something latent that had just all of a sudden started rearing its ugly head.
I found Gemini's reporting of side effects of medication to not be helpful. Especially because it led me to wonder if some of the things were "in my head" (without a doctor even needing to say it). Anyway, there was never a point at which any AI suggested anti-NMDA receptor encephalitis. That didn't really come up until I got into the hospital and had an abnormal brain MRI.
I've since switched to ChatGPT, which I find to be leagues better than Gemini personally.
This is all really hard to explain, so I apologize if this doesn't make a lot of sense.
Thanks for sharing, Andrew. This must've been a nightmare for you. I am happy things are going the better way now.
Thanks for writing this. Perhaps a part of your therapy at the end. Also, a way to understand and recover. I hope all goes well for you!
I'm using both csv and aho-corasick on my project!
I wish you the best and I'm sure us Rustaceans are happy to help with anything
IMHO if you have a sufficiently empirical bent of mind, you are both more equipped and more invested in a good diagnosis and analysis of your own conditions. I have a personal EMR system that I run for the family and I get as much data as I need to tackle health issues. If you do, it is important to maintain epistemic hygiene: you need to correctly consider base rates, false diagnoses, and so on.
If you are able to do these things, it's worthwhile to record everything you want: full body MRIs, CT scans of the head, all your X-rays, your blood records and so on. Other countries are easier to get these in, but even in the US a full body MRI is under $2k, Ulta will test your blood for you, and so on. You can't get most medication here easily because it is prescription-gated[0], but many things are available in India (where I'm from).
Neurological conditions are a pretty big risk, because self-analysis is using degraded machinery at that point, though. Admittedly, a hole in the way I handle things. This is another one of those situations where it is valuable to have a wife.
0: Almost all self-analysis encounters the problem that a third-party to the interaction is the one usually paying, and so most players cater to that
What is an EMR system. Im experimenting with a repo of medical data about me and claude.
Just the industry term for what you’re building. Electronic Medical Records / Electronic Health Records. There’s some subtlety with what they’re doing that makes this more an EHR system (cross practice patient record rather than single practice patient record) but I’ve named it what I’ve done.
I am glad you were able to find the root cause and get treatment, and sorry you had to go through this. I hope we will soon remove “psychiatry” from the domain of medicine completely and start addressing actual biological issues directly.
The interesting bit here is that getting to talk to a psychiatrist was one of the main things that "excited" me about getting checked into a psychiatric hospital. My understanding, at the time, was that they crossed the lines between biological and psychological. A psychologist with an MD, if you will. That seemed, at the time, like exactly the kind of inter-disciplinary doctor that I needed.
There was no psychiatrist that I could see at the ER as far as I know. I had to get checked into the psychiatric facility in order to see one. So that was another dimension here where I was enthusiastic about going, and probably made the decision by the ER to send me there easier.
Glad to hear that you found your way out of the psych ward to get properly diagnosed and treated. I've witnessed first hand people getting trapped in the psych system with neurological or endocrinological conditions. It can be almost impossible to get out, especially if the "diagnosis" is a psychotic disorder. Once you have such a diagnosis pinned on you, anything you say can be dismissed as a delusion, and most psychiatrists are woefully bad at considering somatic explanations for symptoms. You definitely got very lucky.
So lucky.
This is the first I'm hearing about anti-NMDA receptor encephalitis; what a strange and scary condition. If you don't mind the prying, I'm curious about some things.
I noticed you said in another comment that you were treated with antipsychotics in the psych ward. Would you say they had any effect in lessening the symptoms? My intuition says no, since I'm not aware of any conventional antipsychotics that interact with NMDA receptors directly(mostly they act on dopamine and serotonin receptors), but psychopharmacology is tricky that way...
And, another thing. Have you ever tried dissociative drugs(like ketamine, PCP, DXM), and if so, how similar would you say your experience was to those drug experiences? Of course, feel free to tell me to fuck off if you don't want to discuss that in a public forum.
ty for this writeup Andrew, all the best to you
I am wondering how many of these originated from Covid messing up the weakest parts of the body forcing generation of autoantibodies against them by the immunity.
It is also worth pointing out that I have had (somewhat mild) psoriasis on my scalp since I was a kid. It is also an autoimmune disorder. My understanding is that having one increases your chances of having another.
I also have blood relatives with lupus and rheumatoid arthritis.
glad OP has recovered.
modern medicine is truly marvelous.
my wish is poor countries catch up because people die unnecessarily or are misdiagnosed & fxxkd for life.
Wishing you a full and fast recovery!
I'm sorry to hear it, and glad you seem to be on the mend with a positive prognosis.
Glad you're getting excellent care and on the mend. Your work is an inspiration, wishing you all the best.
I read his comment on how his wife was supportive and now gives me perspective on what a partner does and what one can expect from them. I’m not able to articulate it but it’s nice to see such a profound support.
Sad news. Best wishes!
A bit off-topic, but I feel like humanized monoclonal antibody treatments are so under-appreciated today despite showing efficacy against a broad class of diseases, infectious, auto-immune, and even some cancers. Absolutely amazing class of drugs IMO.
Yes! As I understand it, each dose I received (I got 3 of them) came from ~1,000 different donors. It was more expensive than my room and board at the hospital, and my room and board was not cheap.
Thank goodness for health insurance. (Which is very shallow gratitude since the system is broken in many ways. But this ended up not being a financial burden for us, which I am very thankful for.)
I wish you a fast and full recovery.
when I saw "NMDA receptor" I was immediately fascinated
I have long-covid and purposely take low-dose Dextromethorphan (just 15gm)
because it acts as a NMDA Receptor Antagonist
by blocking NMDA Receptors, it helps mitigate overactivation of chronic pain and fatigue pathways
it sounds like Andrew was experiencing the exact opposite effects by aggravating the pathways
* https://pmc.ncbi.nlm.nih.gov/articles/PMC7851375/
* https://images2.imgbox.com/0b/d7/AKg9AJg6_o.png
>> "While autoimmune disorders don’t have a known cure...."
Look up keto, carnivore and juice fasting communities on Youtube. Extreme dietary changes fixed many people from "uncurable" illnesses.
Can take 3 to 12 months though.
> The problems with balance and the overwhelming nature of my psychological symptoms eventually led me to fall and hit my head. This in turn led myself and my wife to decide that I couldn’t be safe at home. And that brought us to my first emergency room visit.
It was baffling to me that it took a fall and hit on the head before the author went to the hospital, until then I saw they went to a hospital in Boston. So, American.
It's tragic how the broken American healthcare system is holding back innovators and global contributors.
I went to my doctor an entire month before that.
It took a fall and a hit to the head to go to the emergency room.