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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.
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.
Can you tell more technical details on how did you approach the research?
What's was her daily Quercetin dose? Trying to compare notes.
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.
Loratadine plus famotidine worked for years for me (I have mastocytosis).
Switching to a keto diet helped way more, though. I still get flushes, rashes, etc., but the severity has gone down to the point they are random annoyances that go away as opposed to medical events.
Cromolyn and/or ketotifen are the big guns for mast cell disorders, though.
Why did you breakup after everything?
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.
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)
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.
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.
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.
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.
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.
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.
Best of luck mate. Most of us take our health for granted.
@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.
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.
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.
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
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.
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.
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:
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
Thank you for writing this. As a fellow traveler on the autoimmune encephalitis (AE) journey, it’s rare to see this condition mentioned outside a specialist neurology setting.
Three years ago, I was diagnosed with LGI1 autoimmune encephalitis (and yes, for those following along, AE comes in several varieties). While I never experienced the degree of psychiatric symptoms you unfortunately had to endure, I have a sense of what this disease can do and share a similar experience of testing and treatment.
For anyone unfamiliar with AE, imagine your immune system spontaneously deciding to run an ablation test on the live neural network inside your skull. Unsurprisingly, there may be some glitches.
My first symptoms were brief “twitches” that appeared simultaneously in my left arm and face. I later learned they were seizures. An urgent care physician prescribed a muscle relaxant and sent me on my way. Fortunately, I was persistent—and it helped immensely to have a supportive and equally persistent spouse. I was able to get in front of a neurologist quickly, and based on my symptoms she immediately suspected AE. By sheer luck, it was her area of expertise.
I was hospitalized immediately and underwent ten days of intensive treatment. That rapid diagnosis and intervention likely spared me a much more difficult recovery and outcome.
Today, life is mostly back to normal. I’ve been able to discontinue both anti-seizure medications and scheduled infusions. I still experience more physical and mental fatigue than I did before AE, and there are memory gaps around the time of my diagnosis. The disease also launched me into an ongoing cancer and B-cell surveillance journey. These days, I have to pace myself and consciously manage my energy in ways I never had to before.
Another challenge is living with the immunosuppression that resulted from treatment. Yes, I’m still the person masking up in our supposedly post-pandemic world.
For what it’s worth, I’ve found creatine helpful for mental focus and clarity (admittedly, a sample size of one).
Wishing you the very best, and I hope the CIELO trial delivers positive results for all of us.
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.
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
> 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 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.
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.
> [...] 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.
>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.
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.
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.
Hey Andrew, I've been an admirer of your work for a long time. Sounds awful, glad you are on the mend.
Fascinating. As a young PCP, I wasn't familiar with the condition.
For professional info on the disease:
https://www.openevidence.com/ask/03586d88-9477-46f9-9089-9a7...
Glad you're getting excellent care and on the mend. Your work is an inspiration, wishing you all the best.
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.
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
I'm glad you got diagnosed and the treatment is working. Sending you virtual hugs!
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.
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.
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!
Thanks for sharing, Andrew. This must've been a nightmare for you. I am happy things are going the better way now.
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