My mother had Lupus. It's kind of another "American medicine failure" story. She'd go to the doctor's office and get berated for being a painkiller junkie even though she never once asked for painkillers. Doctors would just look at her record and assume. When she finally did get a doctor that tried to help, she got put on this weird steroid that made her body a little stronger but at the cost of some brain fog.
She was on that drug for 10-odd years before going to a different hospital on a whim. The new doctor concluded that actually the Lupus wasn't even active. It was in remission and had been for years. Turns out, the previous doctor was skipping some routine tests because the results were always the same.
Mom got off the drug and her mind got better but her body didn't. Off the drug, she was basically in the same physical state as she was on the drug. Couldn't walk or even sit down for more than a couple hours without pain. So what's going on? She started getting her bones checked to see if there was some kind of alignment problem. There was some old film of her as a toddler that showed her walking funny, and she also once had a bad accident doing sports, which seemed like potential evidence for something skeletal.
Before she could figure anything else out, she found a lump and got diagnosed with cancer. It originally looked like regular breast cancer but the breast cancer chemo didn't work. Turns out it's this super-rare "meta-plastic" cancer that nobody at the hospital had ever seen before. She just went through palliative care and hospice then died only a year after finding the tumor.
Turns out there were some studies saying the drug she was on for longer than necessary is correlated with rare cancers. Unfortunately I don't have the name of the drug or the details of the cancer on hand right now. Anyway, it's cool to see some research that might eventually help Lupus patients avoid getting yelled at for popping pills (even when not actually popping pills).
Sorry to hear about the negative experience. When helping a family member through some health problems long ago, I learned that many of the primary care doctors that are easiest to get into are also some of the worst for dealing with complex problems. It makes sense when you think about it - Doctors who provide poor care or who assume the worst from the patients are the least likely to retain patients and therefore the most likely to have openings.
What worked for us was finding a primary care doctor who was recommended by others, even if the wait for a new patient appointment was measured in months or years. From there, the PCP was used as a pivot point to get to specialists who knew what they were doing and as a contact point for basic medication management. Letting PCPs try to manage complex conditions is a mistake, IMO.
I should mention that this failure mode isn't unique to American medicine. The same dynamic plays out in many countries and indeed in many industries beyond medicine. Getting into the experts who know what they're doing is hard because they're in the highest demand. Getting into below-average providers of any profession is always easy because they're not buried under referrals and people knocking on their door.
She is a primary care doctor. Every day, patients come to her and says “My back hurts” or “My stomach feels weird”. She inspects, palpates, percusses and auscultates various body parts, does some tests, and says “It’s nothing, take two aspirin and call me in a week if it doesn’t improve”. It always improves; no one ever calls her.
Eventually, she gets sloppy. She inspects but does not palpate. She does not do the tests. She just says “It’s nothing, it’ll get better on its own”. And she is always right.
She will do this for her entire career. If she is very lucky, nothing bad will happen. More likely, two or three of her patients will have cancer or something else terrible, and she will miss it. But those people will die, and everyone else will remember that she was such a nice doctor, such a caring doctor. Always so reassuring, never poked and prodded them with needles like everyone else.
Her heuristic is right 99.9% of the time, but she provides literally no value. There is no point to her existence. She could be profitably replaced with a rock saying “IT’S NOTHING, TAKE TWO ASPIRIN AND WAIT FOR IT TO GO AWAY”.
I have to say that this is exactly why I like having Kaiser as my health insurance. Because Kaiser is also my healthcare provider, if I need to see a specialist, all it takes is a referral from my PCP or any specialist I'm currently seeing, and it's done. And, they practice evidence-based medicine to the extent that's possible, which means that treatment decisions tend to be pretty reasonable. My PCP refers out whenever there's anything outside her expertise.
I know it sounds like a massive conflict of interest to have one's physician working for one's insurance company, but, somehow, it really seems to work and work well, bypassing those failure modes you mentioned entirely. I've gotten in to see specialists within a matter of a couple of weeks whenever I've needed it.
I wish I had your experience with Kaiser. I've hit that conflict of interest multiple times. Most recently, after going through triage and waiting six weeks for an appointment, and after half way through it with [specialist], I learn that they're actually not the specialist I thought I was getting and just performing triage. This person lacked even basic knowledge on the topic, and none of the classes or groups she can find actually address the issue in question. When our time is almost up she finally decides to lookup a specialist. There's only one available with only one date available in another couple months. But she's only looking in one geographical region because she doesn't have access to data for the other region that can also serve us. If I book this appointment, she informs me I won't be able to find another specialist in the other region because a patient can be assigned to only one specialist. So it seems data actually is integrated across Kaiser's "regions", but only so far as to support their bottom line.
Kaiser doesn't have a "bottom line" to support. North and South Kaiser are two completely different orgs, but they both use the same EHR technology and can move records between them with no real friction.
They may not have a bottom line, but they certainly put up barriers to accessing specialty care that I never experienced when using the Sutter/Blue Shield combo. Also this wasn't a North Kaiser vs South Kaiser thing. More like Solano vs Yolo/Sacramento counties.
Kaiser doesn't excel at specialty care, I will agree with that. There's more friction (and inter-regionally, which is not something I've had to deal with since I'm in the bay area which is the kaiser mothership).
Kaiser exists to maximize healthcare for reasonable costs across a wide range of people, and they do so by keeping general health high, but at the expense of specialty. In a city like SF, that means Kaiser will send you to UCSF for a transplant and pay a significant fraction. In Solano and Yolo/Sacramento there are far fewer specialists and even then I'd expect you to be referred to UCSF (when I worked there, there were constantly people visiting from all over the state for transplants).
Having experienced access to care inside the Kaiser system and outside the Kaiser system I have to say that with the integrated approach that Kaiser has accessing care is easier, getting Kaiser to cover care is easier. Outside of their HMO, with standard PPO care it's a veritable morass of insurance portals, individual doctor portals, no shared medical files so you end up having to request medical records, and send them to each provider individually and for prescriptions... With Kaiser if you need it, you go to the pharmacy at the facility where your doctor is and odds are they'll have it for you. There's no need to "shop around" or wait for a prescription to be transmitted to CVS, Wal-Mart, your local grocery store, etc. It's just there. You have full access to your complete medical record and test results online at any time. My family always received top-notch care and from what I've seen now that I'm on the outside (F's for Cigna), it's just a better way to do medicine.
That said, my experience and my family's is from Kaiser Permanente Southern California (San Diego).
They can be good resources, but depending on the condition they can also be a huge source of misinformation. Don’t take any one group too literally because some of them become echo chambers of misinformation and actively hostile to anyone who disagrees.
There are even a few chronic conditions that attract a lot of incorrect self-diagnosed people who insist they have the condition despite every test suggesting they don’t. For example, many people self-diagnose as having various thyroid disorders based on vague symptoms (or WebMD, etc) but won’t let go of the diagnosis when all of their thyroid tests come back perfectly normal. This leads to weird social media bubbles where people insist the tests are wrong and start sourcing their own medications, with predictably bad results.
Low testosterone is the current big trap for men. You can find social media groups that claim that testosterone is basically a cure-all and that the current reference ranges are far too low. Again, they’re usually quite confused when they finally get a testosterone prescription and it doesn’t fix all of their problems like the Facebook groups or TikToks led them to believe.
This is my experience. They can be good emotional support resources but often develop an orthodoxy unsupported by science and enforced through shaming/berating (e.g. people with lupus shouldn’t drink orange juice or supplement with vitamin C, and similar nonsense).
My advice is read all you can to thoroughly understand what’s happening to you - The Lupus Book by Dr. Wallace, The Lupus Encyclopedia by Dr. Thomas are two great compendiums and candidates for Kindle. Then find support resources that look at the condition as something that can be and should be managed, eschewing the mesmerizing appeal of self-pity and one-upsmanship with symptoms.
The fact is that managing lupus puts a higher priority than normies have on diet, fitness, sleep, mental and physical stress management, and UV exposure. Ordering your own blood work - understanding the tests that are valuable and how to diagnose results is also a good practice for taking charge of your condition - i.e. what are the early warning signs that my kidneys may be “silently” failing; what are my baseline CBC numbers, specifically white blood cells, and can I provide those to a GP/PCP on the fly; etc.
Social media, I found, doesn’t really advance what is mostly a solo journey to preserve function through daily mental and physical discipline. However, another thing I’ve come to appreciate is that most (healthy) people don’t enjoy listening to stories about medical problems, and if you just need to tell your story and get some brief positivity and empathy, online groups can fill that need.
Keep in mind that the alternative is for doctors to routinely dismiss problems as anxiety.
Many conditions can take dozens of doctor visits and years to get a correct diagnosis. Many doctors are not up to date or even aware of common conditions.
People that have a chronic condition are continuously called hypochondriacs. There are a lot of people that basically tell them to shut up and just pretend everything is okay
I am hoping to actually produce software that helps patients navigate autoimmune issues and neuropathies. I had a reaction to a drug that mimicked many diseases and had to go down the rabbit hole myself and find reliable sources of information for many things.
I also found that doctors are just awful, they don't have enough time to hear about 10+ symptoms that may be common with complex autoimmune or neurological issues. I never received proper referral. I have been to Mayo clinic, which was close to proper diagnosis but decided against blaming the drug.
As far as reddit and facebook being a huge source of misinformation, I have to disagree. Some groups are awful. However, the SFN subreddit has great document written by a frustrated physician. Many autoimmune groups link to research papers and non-profit organizations which provide databases of doctors interested in treating particular issues.
One just needs to understand that some commenters are just average people who may or may not be well informed on the subject. However, the wikis and documents on those support groups are generally fantastic.
You're not wrong, but why are they exhibiting hypochondria? These sorts of disorders are complex and multifaceted.
Yes, many people on these subreddits are hypochondriacs, by definition, but you can find them coalescing there, buying placebos, going to chiropractors, functional medicine doctors, naturopaths and reading sketchy journals because they've been told they're fine by doctors. However, it's blatantly obvious they are not fine, because if they were fine, they wouldn't be experiencing those symptoms. They may not be ill in the way they think they are, but they are not well.
Doctors are too ready to write off patients as worried well, but sometimes it turns out those symptoms are due to a real physical issue, and it can take years of fighting the system to find a solution. We're increasingly seeing that autoimmune, neurological, gastrointestinal, hormonal and other types of issues can cause issues across the whole body as well as directly triggering psychological disorders. Often these disorders are not even known to GPs who haven't kept up to date since leaving medical school. A patient with no history of mental health issues presents with sudden health anxiety and panic disorder out of nowhere, is it a primary mental health disorder or is there another underlying issue (psychological or physical) that's brought it on? You can't know unless you take their complaint seriously and properly investigate, but doctors are under time pressure and keen to just write it off as anxiety disorder and stick the patient on the antidepressant treadmill.
Other times, it is purely psychological or somatic, but so what? Mind and body health are intimately tied together. When one starts to deteriorate, the other often follows. Take some Zoloft and go for a walk may be a quick and convenient answer, it may even work a lot of the time, but evidently there are many, many people who find it unhelpful. Rather than looking at alternatives, some doctors will just try and say the same things over and over until the patient gives up.
Then we wonder why people give up on modern, science-based healthcare and get roped into less scientific disciplines. Modern medicine is one of the greatest achievements of human civilization, but many doctors seem to have forgotten that you're treating the patient, not the disease.
Being critical is not being hateful. The fact is that a lot of online support groups get a weird mix of people - people who actually have the clinical diagnosis, people who feel they may be on the road to a diagnosis, people that want to imagine they would get the diagnosis, people who can't get the diagnosis but figure the system is aligned against them for whatever reason, friends/relatives of people with the diagnosis, etc. I always find it weird that some people "want" to have a chronic medical condition or be perceived as one who does - and I've met them. Hypochondriacs show up, that's a fact, Jack.
How do you get doctor recommendations? How do you know that the recommender was able to properly evaluate the care they received (especially in the presence of not yet solved issues like back pain, and non-issues like "sometimes my nose gets stuffed up" which goes away regardless of what the doctor does)?
Such a sad story. With women the experience is typically worse on average when they talk to doctors as the doctors even female one trust them less than male patients. Even feminists advise to go to a doctor with a husband or male relative or friend and let them do the talking.
I'd never heard that, but it sounds to me like the other side of the same coin regarding what's commonly said of men: that they delay going to the doctor for too long as symptoms progress, or even don't go at all unless insisted upon.
It could be that, on average, doctors become accustomed to the idea that when a man visits them it must be very serious, and therefore when they are visited by women they generally display milder or less obvious signs and symptoms by comparison (again, on average). Hence, doctors may get the impression that women are more hypochondriac than men when the fact of the matter is actually the inverse.
Men get routinely ignored, disrespected and misdiagnosed as well. The doctor-patient relationship is adversarial (when facing someone you don't already know), what matters is not what they choose to give you, it's what you can take from them. This is why people who are more assertive and confident will generally do better, as well as people who come in groups.
Damn that is a lot, I'm sorry. I can imagine it's hard to find peace with those circumstances.
My sister is experiencing these symptoms too and puts it on MS, but doctor can't confirm and in the meantime basically medical system is zero help. Canada is a bad place to be debilitatingly ill but not visibly bleeding out.
The sibling comment is correct. Lupus gets you access to all kinds of schedule 2 drugs that some people really get a kick out of. Not to mention, there's often no outside "proof" that someone's immune system is attacking them. A normal looking person walks in and says "hey I have Lupus" and the docs can't really do anything but give them pain pills.
Whaaat? Not sure what doctors you see but SLE does have a test battery that includes blood work and the presence of other shitty but objectively possessed symptoms like pleurisy. Many people with diagnosed lupus will tell you of the hard and stressful journey they went through to eventually get the diagnosis (because it’s rigorous and rather specific). The drugs that lupus patients get access to aren’t the kind you “get a kick out of” - meloxicam, hydroxychloroquine, prednisone, and it gets worse from there, e.g. methotrexate and other immunosuppressives. Lupus sucks balls, and the meds are almost as bad other than the fact that they keep you from dying early. I’ve never heard of a doctor that would take a self diagnosis of lupus seriously, much less do that and hand out prescription pain killers (assuming that’s what you’re alluding to). It would be like walking in and telling a doctor you had cancer and needed oxycodone to treat it: doc’s gonna have some questions and want to see some data first (hopefully).
The inflammation associated with Lupus should show up in blood tests (CRP and ESR) while it's flaring, as it does in other autoimmuine diseases. (Those markers are super non-specific and all sorts of things can raise them, but it is a measurable data point).
An ANA can be negative even if you have Lupus. It is rare, but his is one the the problems? Is it rare because it is rare or because they are not testing for it?
"In fact, only 2% of people with lupus will have a negative ANA. People with lupus who have a negative ANA test may have anti-Ro/SSA or antiphospholipid antibodies."
You Mom's story is so sad and it is why I do not go to doctors anymore. My mother probably had lupus as well that went undiagnosed her hole life. We have all the same symptoms but she died before I was diagnosed.
I have lupus. I am on disability for it mostly because of the neuropsychiatric issues. It took 35 years for them to diagnose me and it was the doctors who figured it out, it was because of my own investigations. When I look at these drugs I asked them "can I do the same with diet and environmental changes", they said no. I proved them wrong. I still have flare ups and they are sometimes unpredictable. Just three days ago I had a psychotic episode from COVID, and stress can set me off as well, but the constant pain is not there and my WBC is up and my panels are usually negative.
The biggest problem my mother and I had was that we had neuropsychiatric lupus which meant they they only saw the mental illness and refused to look at other issues. I had constant low WBC, hyperkalemia, leukopenia, discoid lupus, and arthritis but all they ever saw was the metal illness.
So I mostly proved them wrong. For most people with Lupus, it can be overcome with diet and environmental changes.
So, back to the article. I hate articles like this. Lupus is a highly polygenic disease. I have my genetics, I have some SNPs in TLR7 gene at ~10% for europeans. But I feel my Lupus is mostly caused by several purine nucleoside phosphorylase (PNP) SNPs.
But it does not end there, I see STAT4, IL10RB, TNFAIP3 and mutations that probably play a role.
But how is it my diet can negate all these SNPs? Why do some people with these SNPs not get Lupus.
For me, this is where diet and my FADS1 and FAD2 genes play a role. Ever since I started eating only fish and shellfish, and zero plant oils but for some olive oil I have been way more stable than any drug they gave me.
I thought being vegan would help when I was younger but it made me worse.
So while that kid is interesting it makes it seem like there is nothing the rest of us can do who do not have these rare point mutations. TLR7 mutations do not cause every case of Lupus.
I am sorry for your loss you and your mother had to go through. I don't think I have ever experienced frustration at the level that you have working with the medical system in US.
The immune system is not understood well at all, but western medicine does have quantifiable success in treatment of lupus. In the 40’s or 50’s, scientists/clinicians tracked a cohort of representative lupus patients and within two years of diag most were dead. Today lifespan has been greatly extended, protecting the organs being a big advance. IF you have lupus, and IF you get diagnosed, and IF you can afford proper prophylactic drugs and IF you manage your diet, exercise, sleep, stress better that you ever used to, you can usually manage it and hit old age. The western lifestyle is a bigger impediment to health than western medicine.
I've been quite interested in auto-immune diseases lately. I have a friend with fibromyalgia which latest tests[1] have shown to potentially be an auto-immune disease. The symptoms are similar to lupus, and also similar to what I hear people report as long covid. I don't have a background in medicine, but these all seem related and are all poorly-understood and treated.
It is frustrating to watch as those affected have to fight every day just to get the energy to live their lives, constantly changing diets and routines just to try to make sense of what triggers flare-ups in their condition.
I've been struggling with the same sort of thing for 8 years now. I've been to dozens of doctors in several different countries but never got a proper diagnosis.
From my own research and observations I'm quite confident it is, as you elude to, an auto-immune related disease. The two major triggers for me are exercise; particularly anaerobic e.g weightlifting, and alcohol. Alcohol actually alleviates the symptoms for a day or more and then undoubtedly i'll struggle for a few days after that. Which points to alcohol's suppressive effects on the immune system.
I really really hope this, and similar research[1], turns into something tangible
I've been dealing with autoimmune issues for years as well. I have yet to find a doctor that is willing to help me get to the bottom of it. I too have seen doctors in multiple countries.
For me, the trigger is carbohydrates. Doesn't make having a good social life easy. I'm on a forced ketogenic diet because of it.
Yes, for me as well. I would say, if you are doing Keto, watch your Omega 3/6 balance. My brother did it for a year and focused on mainly red meats. He lost a bunch of weight but the inflammation from the Omega 6 is what probably caused his ankylosing spondylitis and triple bypass.
> the inflammation from the Omega 6 is what probably caused his ankylosing spondylitis and triple bypass.
How confident are you that this is the case? This is now the second story I've read of someone on a keto/carnivore diet having to get a triple bypass after eating too much red meat. Was his omega-3/omega-6 ratio really that much worse than that of the average person not on such a diet (not that that's a great standard to compare against, but the average person is also not getting triple bypass surgery)?
I know there's a lot of evidence against the notion that saturated fats cause CVD, and omega-6s and inflammation is a compelling case, but I'm worried we're missing something.
Interesting, why do you think carbs are a trigger for you? I always have bad IBS symptoms when the other symptoms flare up but I haven't been able to find any foods that seem to directly correlate with it.
Exactly. They are so focused on trying to categorize the symptoms that if it does not fit in any known pattern they just shrug and say it is all in your head. This has a lot to do with insurance coverage but also the training of doctors.
The NHS seems to think that Fibromyalgia is more mental than physical. [1] Anecdotally amongst my facebook friends the people that do have it also seem to be the people that self-report mental health struggles and anxiety. It seems to be much like ME in that regard.
It's in part because of a lack of knowledge as to what it is; it's a disease without an obvious cause, nor an obvious cure. They can't cure it, but it seems that physiotherapy and mental health care seem to help... a bit? But honestly it comes across to me as them trying to make you no longer think of it as a disease, that is, to just accept it and take it as it comes. Which is shit imo.
The condition is also one for which there is no test; it's one that is diagnosed via exclusion.
I work in a Spanish university (yes, I'm a filthy academic) and just the other day we were running experiments using a research tool in relation to this new variation of TRL7. This tool is a genomic variation database aggregator that tries to act as an "oracle" of the clinical significance of the variations by running an AI algorithm on the harvested data. Very cool stuff, in spite of my area not being directly related to bioinformatics :)
Is this the SIFT and CADD systems referred to in the report:
"Bioinformatics analysis revealed a de novo, TLR7 p.Tyr264His (Y264H) missense variant that was predicted to be damaging by SIFT and CADD (Fig. 1a–c (family A) and Supplementary Table 2). This variant was not present in the databases of normal human genome variation (gnomAD, ExAC, dbSNP). Examination of the BAM files together with paternity analysis confirmed that the mutation occurred de novo (Extended Data Fig. 1a, b, d)."
I read that and thought that was pretty neat. CADD is Combined Annotation Dependent Depletion, and is "a widely used measure of variant deleteriousness that can effectively prioritize causal variants in genetic analyses." SIFT stands for Sorting Intolerant From Tolerant, and is "an algorithm that predicts the potential impact of amino acid substitutions on protein function."
I detest these oracles as the variant knowledge base they pull from is often a closed box proprietary product that pulls out variants associated with the disease but rarely find anything actually causative.
Appologies, it was not my intent to make a joke, more to acertain how people became aware of the condition Lupus of which myself and it seems, many others awareness was born from that TV show.
As my late wife discovered a food sensitivity to Nightshade plants, that are common in our diets, can mimic the symptoms of both Lupus and Rheumatoid Arthritis.
When we cleaned up our diets and got chemical based products out of our house, we switched to Hemp based cleaning and body products, her Lupus and RA symptoms went away and never returned.
Common Nightshades are:
Potatoes
Tomatoes
Eggplant
Peppers (including bell, cayenne pepper, and paprika).
Gojo berries are also Nightshades, they are not a 'superfood'.
The list is far longer than just those common ones.
Fantastic news, and I'm very glad to see it at the top, but but poor writing IMO. The quote from the ANU researcher about "showing for the first time how ..." links to a 2019 article, and this makes it difficult to distinguish what within the piece is new information and what isn't.
When I see headlines like this, I ask myself: "Is it really necessary to include the nationality of the person if that has nothing to do with the matter at hand?"
In this case, a better title would have been "a teen's genome may hold ...".
For anything genetic, mentioning ethnicity/nationality is potentially relevant.
Some genetic disorders are predominantly found in certain populations. Cystic Fibrosis is predominantly Caucasian. Sickle Cell is predominantly (or perhaps exclusively) African (ancestry). Etc.
The study mentions CD11c+ B cells aka Ageing B cells (ABCs). These have been detected in other autoimmune conditions and are hypothesized to be pathogenic.
There's a not insignificant number of people who think they have lupus who, in reality, most likely do not, to the point where lupus has become something of a meme.
It's characteristic of autoimmune disorders to be absolute pains to diagnose correctly as well as they often share symptoms with other disorders and entirely unrelated conditions (e.g. if you keep getting rashes that could be any number of autoimmune disorders or none at all, and more likely to be some environmental allergy than lupus).
She was on that drug for 10-odd years before going to a different hospital on a whim. The new doctor concluded that actually the Lupus wasn't even active. It was in remission and had been for years. Turns out, the previous doctor was skipping some routine tests because the results were always the same.
Mom got off the drug and her mind got better but her body didn't. Off the drug, she was basically in the same physical state as she was on the drug. Couldn't walk or even sit down for more than a couple hours without pain. So what's going on? She started getting her bones checked to see if there was some kind of alignment problem. There was some old film of her as a toddler that showed her walking funny, and she also once had a bad accident doing sports, which seemed like potential evidence for something skeletal.
Before she could figure anything else out, she found a lump and got diagnosed with cancer. It originally looked like regular breast cancer but the breast cancer chemo didn't work. Turns out it's this super-rare "meta-plastic" cancer that nobody at the hospital had ever seen before. She just went through palliative care and hospice then died only a year after finding the tumor.
Turns out there were some studies saying the drug she was on for longer than necessary is correlated with rare cancers. Unfortunately I don't have the name of the drug or the details of the cancer on hand right now. Anyway, it's cool to see some research that might eventually help Lupus patients avoid getting yelled at for popping pills (even when not actually popping pills).