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'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.
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 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.
Sad to hear that. You sound like a keeper. Anyway, are you free this weekend? ;)
If not, maybe op can reframe and grab life by the horns.
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?
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)
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!
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.
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 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.
Did doctors confirm Ehlers Danlos with genome sequencing?
"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.
I could not tell you the number of doctors who have rolled eyes at the mention of ehlers danlos and hypermobility disorders.
I’m not entirely sure why I’m mentioning this, other than I sympathize deeply with your wife. What an absolute ordeal.
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...
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.
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.
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.
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.
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.
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 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.
FYI I’m not American. Your medical misogyny comment is dead on, in my opinion. This sort of thing can happen anywhere.
> FYI I’m not American.
Whoops. Guess that was an assumption on my part. Here I am, doing human things…
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.
In your example of MCAS, the solutions seems simple, do a blood test first, before really involving the specialist?
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.
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.
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.
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.
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.
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...
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.
“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.
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.
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.
Really glad you can smell it on people, smell is a powerful diagnostic tool that few people are trained on.
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.
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 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.
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.)
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.
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.
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!
Be well mate.
Reminder that he is the one who is ill, not his wife.
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)
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...
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
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.
If I could make every HN user read this before commenting on literally any article...
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.
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
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.
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.
We don’t have good ways to even start thinking about such simulations.
https://people.com/tech-pro-uses-chatgpt-to-create-cancer-va...
* 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.
Linux has come a long way Valve's efforts with Proton/Linux Gaming
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...
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.
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."
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.
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'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.
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...
Wow.
Best of luck to you, and get well. I’m glad it didn’t get even worse before it was treated.
[1] - https://www.cdc.gov/nchs/data/dvs/MortFinal2007_Worktable23r...
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.
My intution is there is a distinction besides the fact both are sedate behaviors
This seems remarkably high.
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.
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.
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.
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.
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
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?
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.
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!
I feel like there's a burntsushi joke hiding in there somewhere.
All the best Andrew.
(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.)
Cheers
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.
Wishing you health, of course. The world is better with you in it.
I have since been scanning documents like a boss. Lol.
In the 1980s, AIDS was like that. All these healthy, young people, just started getting these diverse horrorshow problems, then died.
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'm glad that get to carry on doing whatever makes you happy, and for your whole family.
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...
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
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.
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
> Seems like that virus in particular lingers and reactivates in many people.
Scary cuz it spreads from kissing / sharing fluid containers :O
This is where AI like ChatGPT shine because they won't just dismiss you.
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
(It took two months for my MRI appointment, but hey at least it was free, thanks Australia?)
I have a blog post compiling all my research here:
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.
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.
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.
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.
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.
Consult a lawyer. Participating locations only. etc. etc.
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.
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!
My early rust skills benefitted significantly from having read your code!
Good luck and good health.
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.
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.
I wish you the best and I'm sure us Rustaceans are happy to help with anything
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
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.
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 also have blood relatives with lupus and rheumatoid arthritis.
modern medicine is truly marvelous.
my wish is poor countries catch up because people die unnecessarily or are misdiagnosed & fxxkd for life.
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 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
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.
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.
It took a fall and a hit to the head to go to the emergency room.
