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Her Various Symptoms Seemed Unrelated, Then One Doctor Put It All Together
- arkades 9y ago> As for Huls, he is finishing up his fellowship at the hospital this summer. Wherever he ends up, he is certain he will find new cases to challenge his curiosity, cases he hopes to solve. No, he won’t, because only early stage residents are given the freedom from economic realities to spend hours digging and thinking through records. Docs aren’t paid for their time, nor even for results - and their employers (read: hospitals) have no intention of going into the red. Do note the key to this diagnosis wasn’t finding a brilliant or deeply experienced path: it was about putting it into the hands of a curious trainee, who had the time to chase that curiosity. I’ve said it before and I’ll say it many times in the future: when it comes to complex patients, there’s enormous value in chucking insurance out the window and just paying the doc for their time. A moderately clever doc afforded more than 7 minutes to work on a case can solve a lot of problems.
- ianai 9y agoIs there a way to actually request a specific doctor have some time dedicated to figuring your case out at your expense? i.e. "Please do more troubleshooting for me above what insurance pays." I like your idea - but I fear the industry might have already ruled it out. -edit- Granted, I've done this in my own life by going to specialists at their own offices/outside of a hospital or medical group.
- stevenh 9y agoIsn't this what concierge doctors offer?
- arkades 9y agoSome. Some push the same old practice model but with reasonably cheap prices, so they can keep their old patient base and make their income off the slightly higher billings and the reduced overhead of eliminating your billing (read: calling the insurer and arguing) staff.
- arkades 9y agoUnfortunately, no. Your doctor is contractually bound to the insurer’s fee structure; they can’t take an extra penny off of you. You’d have to go to someone that doesn’t take your insurance at all (or just don’t tell them you have that insurance). The side effect of all this, honestly, is that doctors stop learning how to turn off 7-minute-mode. When it comes to very serious problems, it pays to go to a practice that doesn’t accept insurance at all, because they never got into the bad habit to begin with.
- seanmcdirmid 9y agoAlmost makes the red envelope culture in Chinese hospitals seems appealing.
- erric 9y agohttps://en.wikipedia.org/wiki/Red_envelope https://en.wikipedia.org/wiki/Red_envelope I’d never heard of this before.
- twic 9y agoOn the situation in hospitals specifically: https://www.seattletimes.com/opinion/the-red-envelope-capitalistic-health-care-in-red-china/ https://www.seattletimes.com/opinion/the-red-envelope-capita...
- jotm 9y agoLol, that's exactly life in Eastern Europe/ex-USSR. There's socialized medicine, but if you want better service, you have to bring a gift (whisky, chocolate, money, the latter is always desirable). Not just hand cash over, that's disrespectful nowadays.
- linkmotif 9y agoMy grandmother was a pediatrician in Kiev in Soviet times. Her salary was about on par with anyone else, but she got tons of gifts.
- nitrogen 9y agoSome possible search terms that might help (but I don't actually know the answer): concierge medicine, direct primary care, fee-for-service, out-of-network
- sowbug 9y agoYes, I've done this. I paid an out-of-network specialist for a second opinion on a cancer treatment. My HMO ended up following that specialist's recommendation. While I likely would have survived either treatment, this one was shorter and had fewer long-term side effects. I paid for the consultation out of pocket. It was less than $1,000. Not that outcome matters much to your question, but I have fewer scars, more original body parts, and better overall body function than I would have had with my HMO's original plan.
- batter 9y agoWhy doctor? It's the most expensive part of your healthcare. But it can be trainee/researcher/AI. Which could be absolutely out of expensive healthcare system. Service which you could buy for additional cost from company which has good guess/prediction ratio based on input parameters from doctor. Service which could be in any part of the world.
- arkades 9y agoWhat? The doctor’s visit is the cheapest part of healthcare. Procedures cost far more, and pharm far more again. Perhaps you’re outside of the US, though I can’t think of a country where this isn’t true.
- jessaustin 9y agoDon't forget diagnostic scans and tests. Those are quite expensive. However GP is proposing a service that doesn't actually exist now: paying a medical expert to spend a lot of time considering a challenging case. It would have obvious benefits, so we shouldn't dismiss it out of hand just because it would be too cheap.
- nitrogen 9y agoThere was a now-defunct attempt at this called MetaMed: https://en.m.wikipedia.org/wiki/MetaMed https://en.m.wikipedia.org/wiki/MetaMed I'm curious if any others have succeeded.
- feiofh398r39rty 9y agoIt is very informative to read the founder's attempt to explain why MetaMed failed: https://thezvi.wordpress.com/2015/06/30/the-thing-and-the-symbolic-representation-of-the-thing/ https://thezvi.wordpress.com/2015/06/30/the-thing-and-the-sy...
- inetsee 9y agoI have often thought that the Freestyle Chess model (a variation of Advanced Chess https://en.wikipedia.org/wiki/Advanced_Chess https://en.wikipedia.org/wiki/Advanced_Chess ) could be applied to medical diagnosis. Create a team consisting of one or more human doctors with a medical diagnostic AI. From the article it sounds to me that a lot of the research could have been done by an AI, with the human doctors making the final decision on the "best" diagnosis.
- jstanley 9y ago> there’s enormous value in chucking insurance out the window and just paying the doc for their time I'm sure there's enormous value in chucking economic realities out the window for everyone's job, but that doesn't make those realities go away.
- arkades 9y agoYou perhaps misread what I wrote. I don’t know how to reply, since I don’t know what it is you think I said. I don’t believe it “throws economic realities out the window” to say that sometimes you need an extended interaction with an expert, and that if you want more than 7 minutes of an expert’s time, you should engage with a reimbursement model that pays for more than 7 minutes. That doesn’t ignore the economic realities of healthcare at large; it’s saying sometimes you need a premium good, and those have premium prices.
- jstanley 9y agoI thought you were proposing just forgetting about insurance and having the doctor's time paid for by magic.
- blakesterz 9y agoI know the Mayo Clinic has a totally different pay structure for docs, maybe there's other places out there like that as well. I think this is why people go there for answers to hard problems. Docs get paid a salary, they then choose how many patients they see, and that's it. I assume that's also why it can be tough to get an appointment there.
- arkades 9y agoMayo is a bit of a special case. Guwande hyped their fee structure in comparison to private practice, but it’s largely the same as every hospital: the doctor is an employee with an annual salary, the hospital is reimbursed per unit service by payors. Guwande compared them to private practices, where the doctor acts as his own employer, and thus has to maintain their own volume. The difference is that given their prestige and the number of out-of-state (read: mostly cash-paying) patients, they get much higher reimbursement than most places and can afford not to push the patient mill so hard. Normal hospitals have a patient base that is mostly insured or, if uninsured, the impoverished kind, not the globe-trotting wealthy kind. So their reimbursement is negotiated with insurers, so... they have to push the mill hard.
- curlcntr 9y agoThere's an analogy here for software and engineering too. Getting to root cause and finding solid solutions - takes curiosity, energy... and time.
- chrisbennet 9y agoYou know what they call software organizations that don’t have time to do this? “Fast paced”
- majos 9y agoFor some time my read on this situation has been that the "doctor shortage" that produces 7-minute diagnoses stems from a restricted number of residency slots, which is set (I believe?) by the federal government. I had thought the AMA was influential in lobbying to keep the number of such slots low to prop up doctors' salaries, but with some research it's unclear how true this is. Anyone know? How strong a lobbying force is the AMA, anyway?
- arkades 9y agoThe AMA has actually been lobbying quite strongly to expand the number of residency spots. Doctors salaries are generally pushed from the top down by Medicare and not by general supply-and-demand principles. So these shortages don’t lead to salary bumps, they lead to inferior substitutions (expansion of mid-level practice privileges), which actually puts a downward pressure on salary while also providing worse care for the public. The problem with residency slots is that they’re funded as part of the larger Medicare legislation, and no one wants to push for the bump in funding/taxes for Medicare needed to expand it. The reason visits are seven minutes long is because part of a trend that started with the HMOs in the 80s. The hypothesis on the part of insurers was that docs have a general target income - that they don’t work at maximum capacity (in general - obviously wonky things happen at the extremes.) If you reduce per-service billing, docs would maintain constant output to hit their personal target income goal. And... that’s exactly what happened. Since then, insurers have continued to hit against per-service fees, and docs and facilities have continued to shrink the time they alot to each service in order to keep afloat. In fairness, docs don’t have an awful lot of flex on this - they have to meet overhead costs which are fixed regardless of how small their reimbursement gets, and even with pitifully short visits doc real earning power has gone down quite a lot in the last 30 years. Docs work about 3x as hard as they used to, for about one third of the real income. It’s actually a bit scary: there’s not a lot of leeway left in this, and medical education is more expensive than its ever been. Docs carry the financial risk and massive increase in burnout, patients bear the risk of the reduction in time and quality of care, and everyone else is squeezing the juice out of the grapes. Something’s gonna give.
- majos 9y ago
- Angostura 9y agoWell, I suppose he could end up in a country where health isn’t in the insurance straitjacket
- huffmsa 9y ago"Symptom Number Two will shock you!"
- lawl 9y agoI'm not sure why you were downvoted. That title is pretty much the definition of clickbait.
- huffmsa 9y agoA bunch of hardasses who don't like jokes or people who actually think the BuzzNow content on their Facebook is enjoyable.
- aklemm 9y agoOr people who understand the reality of getting stories read.
- ghusbands 9y agoMaybe because sarcastic quips are a poor way to get a point across. Simply pointing out the title is clickbait and perhaps suggesting an alternative would be useful.
- huffmsa 9y agoWho am I to say what a good title is? I'm certainly not the editor or the NYT (no one is, they fired their editorial staff). But I am the person to say "this title reminds me of tropy drivel which I've seen over the past few years, and I'll supply the appropriate subheading."
- ghusbands 9y agoSomething like that would have worked better, indeed. To be clear, the HN guidelines for commenting [1] say "don't be snarky". https://news.ycombinator.com/newsguidelines.html https://news.ycombinator.com/newsguidelines.html
- leroy_masochist 9y agoTLDR: It was Schnitzler Syndrome, a rare autoimmune disease. Clickbait titles and suspense-novel narrative structures in articles like this really annoy me for some reason. Just get to the point.
- washadjeffmad 9y agoThanks, I didn't find the format interesting, and yours was the first comment to mention or discuss the finding. Info on Schnitzler Syndrome: https://en.m.wikipedia.org/wiki/Schnitzler_syndrome https://en.m.wikipedia.org/wiki/Schnitzler_syndrome
- derriz 9y agoThanks. I'd love it if the first comment on every post was a link to a wikipedia article or other reasonably dry/authoritative source describing the substantive subject of the story. Often (but not always) I'm just not interested in reading the "human element" aspects that often dominate general/popular news stories. A title like this pricks my curiousity but I know I'll have to wade through substantial back-story to get to the meat of the article.
- jaclaz 9y ago>Clickbait titles and suspense-novel narrative structures in articles like this really annoy me for some reason. Just get to the point. You are right, the suspense approach, is terrible, I had the impression that the protagonist of the story was the Dr. May, and then it comes out as being only another doctor that remained clueless making every kind of unneeded tests for seven months until - by sheer luck - a curious trainee managed to find the right clue, reportedly by digging into early medical records. I may add that it looks to me somehow "disturbing" the Senseless Capitalized Initials of the title and paragraphs.
- gaius 9y agoRight; it's like someone has watched too many episodes of House and thinks that's how doctors are/should be.
- kqr 9y ago> Huls hadn’t heard of Schnitzler syndrome, either. He came upon it by using the database PubMed to look for a disease that matched the patient’s symptoms. He made a list of her symptoms and abnormalities. To get the full picture, he combed through her earlier electronic medical records, now archived in an old electronic warehouse, and found that her symptoms had started maybe a decade earlier. Then he looked for a disease that fit. It took hours before articles on this strange disorder began to appear. As he read, he suspected that she had it. Is this database open? If so, anyone in the same situation as the daughter in this article could spend the hours, rather than hoping a professional will. Not to self-diagnose, but to narrow down the list to a number of candidates the professionals are willing to look through. Sure, what takes the M.D. 6 hours might take me 40 hours, but if the alternative is 10 years of suffering for someone I love, it's easily worth doing. On a similar note, I have combed through a bunch of research on a particular type of medication recently, and I hope the fruits of my labour will pay off. Time will tell. Either way, I have learned a lot. Once you are dealing with somethibg that is difficult to diagnose and/or resistant to treatment (I might argue the two are the same thing on a fundamental level), a surprisingly large portion of medical care turns DIY. They never tell you this but unless you are actually made of bucks and can visit the best specialists in the world, it won't take long until you know more than the doctors you meet about the specific problem you're dealing with.
- Amygaz 9y agoPubmed itself is open (just google "pubmed"). However, while many scientific publications are open access, many more are not. I find that google scholar does a pretty good job at searching. I typically start with google before using pubmed. Then you need a place to store your papers. I like to use F1000 workspace. If your doctor is not helping you, get a new one, preferably in a big city with a university-affiliated hospital. These MD deal with highly educated levels of patients and colleagues, and they like it.
- rinze 9y ago> I find that google scholar does a pretty good job at searching. I typically start with google before using pubmed. It does, plus it has the great advantage that it will find a PDF of the paper posted by the author (or someone else) on a webfolder somewhere. Pubmed only links to the "official" paper publication, plus some open repositories in some cases.
- bobhir 9y agoThis was like a real life episode of Dr. House MD
- m4lvin 9y agoRelated startup: http://www.pacmed.ai/en/ http://www.pacmed.ai/en/
- mrob 9y agoWhat makes macrophages the "most primitive part of the immune system"? How about antimicrobial peptides, which are simpler and evolved earlier? https://en.wikipedia.org/wiki/Antimicrobial_peptides https://en.wikipedia.org/wiki/Antimicrobial_peptides
- sungam 9y agoSchnitzler syndrome, whilst rare, is well known to dermatologists and is in the differential diagnosis of chronic urticaria (hives). Not to take away from the resident that made the diagnosis but if the patient had been seen by a dermatologist I would be surprised if this would have been missed.
- rabboRubble 9y agoArticle said a dermatologist was consulted early on and who failed to make the connection. Doesn’t support your ascertion.
- jessaustin 9y agoAre you "ascerting" that dermatologists never make mistakes?
- sungam 9y agoOf course it is possible to miss the diagnosis. My point was that this is not an obscure disease that a dermatologist would not know about.
- beagle3 9y agoAnecdata, but... I personally know so many missed cases (from “mundane” cases like mono, to the more serious cases like neuroblastomas) that were diagnosed by googling or a guess from a Med student after being dismissed by a specialist, that leads me to suspect the problem is inherent, rather than the occasional miss.
- sungam 9y agoI agree that there are many missed and incorrect diagnoses made not least by specialists.
- DoreenMichele 9y agoBut what you actually said is this: if the patient had been seen by a dermatologist I would be surprised if this would have been missed. I was diagnosed in my mid thirties with a genetic disorder. It is a more recently recognized milder manifestation of a well known condition. Prior to that, I was basically treated like a hypochondriac and routinely accused of being lazy. I have read a bit about the difficulty in getting a proper diagnosis. It is routine for people to get treated like they are nuts because the doctors do not immediately have the answer. This winds up being incredibly threatening. It puts you in a position of fearing for both your freedom and your life if you keep talking about your symptoms and keep trying to find an answer, while knowing that not getting an answer may well kill you. When I had been on antibiotics for several weeks straight with no diagnosis, I expressed my concern that I could die if they couldn't find the answer. The doctor asked if I would like a psych referral. My legitimate concern that I could die in the face of being deathly ill and doctors failing to readily diagnose it was treated like I was merely being neurotic and needed therapy. Doctors frequently do a terrible job of identifying anything that is at all obscure and they treat patients in a way that makes it both very challenging and genuinely threatening to even try to get a proper diagnosis. I did all in my power to not wind up hospitalized because I was relying heavily on home remedies, like hot baths, to keep my symptoms down to a dull roar. I was convinced that ending up hospitalized would deny me the ability to do that and would be the death of me because doctors can be such assholes at times. After finally getting a diagnosis, I began growing stronger and healthier. I had always been sickly and did a lot of self care. I now had an explanation as to why I was always sick and it was very empowering. People with my condition typically get regular checkups with a specialist four times a year. As I grew stronger, my doctor began scheduling me fewer checkups and expressed zero curiosity as to how on earth this was happening when it is supposed to be impossible. When I moved because I was getting divorced and could not afford to remain in California, I did not bother to try to find a new specialist. I can manage my condition better than a doctor can and I didn't want the hassle when doctors don't really want to see me anyway because, I guess, I'm too competent to be a desirable patient. One outgrowth of that: people on the internet conclude I am some nutcase rabidly rejecting conventional treatment. Doctors did not really want to see me. I no longer need a physician's care. But good luck explaining that to legions of internet strangers who are quick to judge and have no desire to be confused with the facts. If you have an obscure condition, it is not unusual to know more about it than most general practitioners will. This fact is not at all respected by the general public. Claiming you know more gets pissed all over in internet discussion. The system does an incredibly poor job of serving most people with obscure conditions. Given the wealth of information and tools available today, I find it appalling that this is so.
- drakonka 9y agoI had almost exactly these symptoms twice in my life, as a kid. It stumped doctors then, too. It was not Schnitzler syndrome: it was not chronic and in the longest case only lasted a few weeks to maybe a couple of months. However, while I never did get a "name" for the illness doctors came to the conclusion that my immune system greatly overreacted to something and went into a crazy state of attack - hives, persistent fever, painful skin, pain all the way through my bones, etc. I wish I could put a name to what it was - I do not think my case was rare and a name does exist, but I was too young to have been told at the time.
- deleted 9y ago[deleted]
- lkrubner 9y agoIt does make one wonder how broken the system is. Consider how often we hope this is the norm, and yet it is held up as something exceptional: ——————— “When I see people suffering and I know that if I took the time and effort, I could figure it out,” he told me, “then I have to do something.” He looks for unexplained pathological findings — in this case, the high level of IgM.
- datashovel 9y agoMy guess is the doctors who don't spend extra time trying to solve the case probably shouldn't be paid for the time separately as is being suggested here. It would appear to me that they have already lost the innate curiosity (if they ever had it) that made them want to become doctors in the first place. Or they're not confident enough in their ability. Doctors are already paid substantially compared to most other professions, so for them to not put in extra time on the exceptional cases makes me feel they probably feel entitled. Too much so to have any impact on the rare cases. The doctors who could realistically find the solution are the ones who will likely want to take the case on for free.
- majos 9y agoThe idea that we should count on people to spend additional time on their job for free because they enjoy it seems overly idealistic. Sure, such people exist, but the easiest way to incentivize more time on a job is to just pay people accordingly.
- solarkraft 9y agoI will not be reading this article because of its title.
- mychael 9y agoI have zero medical expertise, but it sounds like this situation could be improved with software. Given a database that contains an exhaustive list of every illness and symptoms: illness symptom diagnosis_symptom_set ------- ------- ---------------------- id id id name name symptom_id (FK->symptom.id) illness_id (FK->illness.id) (Pseudo SQL) SELECT diagnosis.name as name FROM diagnosis_symptom_set diagnosis_sympt JOIN illness diagnosis ON diagnosis_sympt.illness_id = diagnosis.id WHERE symptom.name in (hives, chills, weight-loss, .....) This will at least give a patient awareness of what has been tried/tested and what remains, possibly saving them months or years.
- nicolashahn 9y agoMuch easier said than done. There are several startups out there attempting to achieve something like that. The issue isn't in the technical difficulty, but the bureaucracy and red tape involved in getting the patient data, getting enough illness/symptom data to make diagnoses possible (which is a lot), proving to the hospital that it's worth the effort to adopt the platform, and making a solution agnostic enough to extrapolate to enough hospitals to turn a profit.
- mychael 9y agoAgree 100%. I never claimed it would be easy, just that software could help.
- beagle3 9y agoThe issue is also the technical difficulty. There is huge variance and the number of variables to consider is also great. A computer/database is a better tool for the job, of course, but the balancing act between false negative and false positives is extremely hard. See, e.g. the (very) simplified case of base rate fallacy[0] ; There is an inherent information problem in doing diagnosis, that a large database and fast search do not address. [0] https://en.wikipedia.org/wiki/Base_rate_fallacy#Example_1:_Drunk_drivers https://en.wikipedia.org/wiki/Base_rate_fallacy#Example_1:_D...
- 9y ago
- Someone 9y agoSurprisingly, if I google ”hives elevated levels of IgM” or ”hives elevated IgM”, ”hives fever elevated IgM” or several variations, the top hit is https://rarediseases.org/rare-diseases/schnitzler-syndrome/ https://rarediseases.org/rare-diseases/schnitzler-syndrome/. For ”hives elevated level of IgM” and ”hives IgM”, that’s the second hit. Does Google react that fast to nytimes articles?
- beagle3 9y agoIt's possible and even likely that Google did react -- it is enough for people to google "schnitzler's syndrome" and click the link to rarediseases.org -- as google does track which result people choose, and rank it higher for the future (for different searches as well). It's also likely that "hives elevated IgM" is the right search in retrospect; Before diagnosis, the search would likely have been more along the lines of "hives weight loss elevated leukocyte elevated IgM fever rashes at night" which likely didn't point as easily to schnitzler's syndrome (or maybe it did, I don't know). The info was distilled and purified for this article. It likely wasn't that well presented to start with - in my experience, that's the case for many rare diseases: once you know what it is, it is clear that in retrospect you should have seen it all along. But that's just 20/20 hindsight.
- camel_gopher 9y agoAm surprised that a Grand rounds was not convened for this. There's an online service of the same name which has the same function.
- tejtm 9y agoHi HN Clinical research types may find this still imperfect tool to be of use none the less. https://monarchinitiative.org/disease/MONDO:0018304#phenotypes https://monarchinitiative.org/disease/MONDO:0018304#phenotyp... Full disclosure: guilty guilty guilty
- jtbayly 9y agoIs it just me or is this site exactly what several other people in the comments here are proposing as a major part of the solution? I’m not sure, since others are basically saying it’s too hard to do. Cross referencing conditions and diseases along with the scientific and common names for things could indeed be very useful!
- tejtm 9y agoThat is the goal but it is a very wide and deep problem you won't catch me trivializing but we are chipping away at and seeing success. Our group working on laypersons synonyms because most folks with rare diseases do not know the terminology. https://human-phenotype-ontology.github.io/2016/03/24/layperson.html https://human-phenotype-ontology.github.io/2016/03/24/layper... I should probably be more effusive about all we do as we always seem to be further along than most attempts(and we give it away), but as one of the sausage makers I always worry someone will run into something that is not fixed yet.