Her Various Symptoms Seemed Unrelated, Then One Doctor Put It All Together
nytimes.com
nytimes.com
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.
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.
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.
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.
I’d never heard of this before.
https://www.seattletimes.com/opinion/the-red-envelope-capita...
Having to slip the doc and the anaethetist a red envelope and hoping it's the enough that they'll take proper care of you is not a good system to live under.
Oh, you grossly underestimate what people are capable of. At least in China there are many reported cases of such horrible patients. Maybe US being a developed country have fewer these people, but definitely not zero.
Probably there are other professions in which one gets better service if one has an inside connection, but this situation really speaks ill of how medicine is practiced.
Having a doc in the family is a mixed blessing at best. You can get priority treatment, and the benefit of your family members full attention. On the flip side, all the docs I know that aren’t fools or morons don’t treat their own family for anything more serious than a scrape. You’re biased, you don’t want the guilt of an error, and you don’t want to be the bearer of bad news. I frequently ask my wife not to ask me about her mother’s health developments; I’d rather tell comforting lies than be a source of sour truth.
Being a VIP in a medical center due to your relatives gets you more ass kissing, not better care. People don’t want to step on toes, or give the impression that useful care is being withheld. And if your relative is a worse doc than the one you’re seeing? No one is going to overrule your family member to your face.
Personally, all I ever want from a patient is a clear timeline of events, their best attempt to articulate what they felt, a list of scripts, and old medical records (especially imaging.) The patient that can give me that has made the task of helping them 1000x easier.
I wish that were so, but disease is not confined to the reasonable, the rational, the kind, the respectful, or the grateful. On the contrary, the stress of disease and it’s associated burdens (social, financial, psychological, etc) tends to diminish those qualities in even the best of us.
Harvard did a huge study on malpractice suits a while back. They found that most medical errors that caused the death of a loved one did not result in suits, and most suits did not originate from medical errors. That is to say, the good or ill you do a patient isn’t the reason they sue.
There are some doctors at teaching hospitals who specialize in diagnosing rare diseases and don't take insurance for this reason.
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.
I'm curious if any others have succeeded.
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.
https://en.wikipedia.org/wiki/Clinical_decision_support_syst...
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.
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.
[1] http://articles.baltimoresun.com/1997-03-01/news/1997060012_...
[2] http://www.nytimes.com/1997/03/01/us/doctors-assert-there-ar...
[3] https://www.cnn.com/2017/03/13/health/train-more-doctors-res...
The 1997 cap on medicare-funded residency slots has remained in place since that time, unchanged despite population growth and an aging population. The current crisis and physician shortage is in large part a result of that two-decades-old legislation which was engineered by the AMA and other major medical groups.
Based on your comment history, you trained as a doctor, which is great and absolutely commendable [1].
However, do you feel compelled to troll and post obviously slanted information due to your personal association with the AMA?
For the record, I think doctors should get paid well and more than they currently do. Clinics should be run by physicians. But allowing guilds like the AMA to artificially restrict the availability of critical healthcare has resulted in millions of avoidable deaths and serious suffering across the entire population.
"The predicted physician shortages will result in decreased access to care for millions of individuals. [...] [A]dding one PCP per 10,000 people would reduce predicted all-cause mortality [...] by 5.31 percent. Translated nationally, this would avert 127,617 deaths." [2]
[1] https://news.ycombinator.com/item?id=16337410
[2] https://web.stanford.edu/group/sjph/cgi-bin/sjphsite/the-loo...
See also the 1997 senate finance committee hearings on graduate medical education [2].
[1] http://annals.org/aim/fullarticle/717927
[2] https://www.finance.senate.gov/imo/media/doc/hrg105-901.pdf
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.
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.
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.
True, but
https://en.wikipedia.org/wiki/Sci-Hub
sad that it needs to exist, but good that it does.
One should be able to then filter the disease database based on symptoms. Doctors seem to do this in their head, but they are not comprehensive stores of information. I suppose the problem is in the encoding of symptoms, it's not that simple.
We are by definition reacting different, and unfortunately statistics are not helping on this case.
Basically, we have:
- too many illnesses (I guess 10% of top common health problems, covering 90% of all problems)
- for each illness, we have N number of symptoms (which unfortunately all or only a subset of this can occur)
- then we have fake symptoms (statistically out of threshold values but we are living fine with them)
this is generating a big number of combinations.
With this much combinations, it is requiring extensive amount of tests.
As everything health is also optimized for the greater good. Which requires optimum cost management.
So basically medicine today, with statistical approach, is happy to skip 1%, if it can fix 99% with 90% less cost.
I think this is probably the easy thing to fix when it comes to searching, as you could pretty much leave out the common diagnoses as they'd likely have been tried - Imma call this the "Dr House, is it Lupus?" filter.
From there, you could have "try this" filter, and see what the results are. I wonder what the overlap is between tests and symptoms, but surely with 10 tests and 10 symptoms, most illnesses could be mostly identified?
I've done this with various doctors, trying to figure out what the hell is wrong with me. In my experience, as soon as you start telling them they just think you're a crazy hypochondriac who sends too much time on the internet.
———————
“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.
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.
Kismet? Fate?
My ex was career military and I had the brilliant foresight to be a supportive wife and homemaker, allowing him to shine at work. This turned out to be critical to saving my life as his last 3 duty stations before we divorced were all special duty assignments, including his assignment to Travis Air Force Base as part of a tiny contingent of Army people stationed there.
Travis has a regional hospital serving military members from 8 states. It's longest hall is like a quarter mile long and it has its own dedicated gate on the base. It also is a teaching hospital that works closely with UC Davis Medical Center in Sacramento 45 minutes away and I think has connections to stuff in San Francisco, where some of our (family) testing occurred.
I had already been very sick for some weeks before we moved to Travis. Just before Christmas, we moved from temporary quarters into an apartment. January 4th, 10 weeks of chronic sinusitis turned to pneumonia and I ended up bedridden until some time in April.
I had about 2 doctors visits a week during that time and they ran all kinds of tests. All but two tests came back negative. I was told I have a ragweed allergy and a genetic disorder.
Because I was in the SF Bay Area, where by all rights an infantryman would not have been stationed normally, there were like 3 hospitals in the area that dealt with this disorder. My official diagnosis was atypical cystic fibrosis based on sweat chloride results in a historic grey area. Had I been anywhere else in the world, I probably would have died, having never received a proper diagnosis.
Most doctors have heard of CF. They have not heard of atypical CF, which presents more mildly and is frequently misdiagnosed as asthma, a diagnosis I had at one time. I felt it was wrong, but it got me useful treatment, so I didn't argue it at the time.
I also did some of the following things which I list in hopes of answering what I assume is your real question of "Do you have any insights into what I can do to try to successfully get a proper diagnosis?":
I persisted in the face of a lot of nonsense from medical people.
I tried to put my emotional baggage down before appointments and keep focused on getting answers rather than venting my spleen at random doctors.
At some point, I wrote everything down. Printing this out and taking it to a doctor was a mistake because he did not have time to read it. That appointment did not go well. But getting it all straight in my own head and able to tick off some of the most important details in chronological order and in a nutshell proved very valuable.
I eventually did some of my own research online as well.
Clinical research types may find this still imperfect tool to be of use none the less.
https://monarchinitiative.org/disease/MONDO:0018304#phenotyp...
Full disclosure: guilty guilty guilty
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!
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.
For ”hives elevated level of IgM” and ”hives IgM”, that’s the second hit.
Does Google react that fast to nytimes articles?
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.
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, .....)
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:_D...
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.
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.
Clickbait titles and suspense-novel narrative structures in articles like this really annoy me for some reason. Just get to the point.
Info on Schnitzler Syndrome: https://en.m.wikipedia.org/wiki/Schnitzler_syndrome
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.
Think something like GQ, Vanity Fair, Rolling Stone.
It's not meant to be a news article, it's a story.
Whether this particular submission meets the criteria for a HN discussion could be debated, although it does seem to have generated at least some useful comments.
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."