
Her Various Symptoms Seemed Unrelated, Then One Doctor Put It All Together - CaliforniaKarl
https://www.nytimes.com/2018/02/14/magazine/her-various-symptoms-seemed-unrelated-then-one-doctor-put-it-all-together.html
======
arkades
> 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
Is 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.

~~~
arkades
Unfortunately, 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.

~~~
jessaustin
You're right that it's difficult for physicians to "turn it off". The
contractual requirements you reference, however, are basically unenforced. The
only way a physician will get "caught" charging more than agreed is if the
patient calls the insurer to complain. Presumably you wouldn't do that to her
after she saved your life.

~~~
netheril96
> Presumably you wouldn't do that to her after she saved your life.

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.

~~~
jessaustin
You're right of course, and this isn't limited to the Chinese. It's best to
have physicians in the family; marry one if there isn't one already! This
isn't practical for everyone, so perhaps it's best to choose a capable young
physician early in life, so that by the time such trust is required it has
already formed.

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.

~~~
arkades
> 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.

~~~
nitrogen
The value I would see in having a physician as a close relative is in learning
how to communicate effectively with other physicians. Then one could in theory
need fewer visits to their own doc to get to the bottom of a problem.

~~~
arkades
That’s actually a problem. When I myself see a doc, I make a point of being as
colloquial about it as possible. Part of our training is about taking what
people say and converting it into technical symptoms; when people start to
“communicate effectively” it heavily biases us towards certain diagnoses. The
more intelligent/educated the patient the more likely we are to take one of
their word choices at face value.

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.

~~~
ianai
That’s really helpful to know.

------
kqr
> 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.

~~~
phkahler
My first reaction to these things is that there should be a large database of
diseases and symptoms along with some statistics about how strong the
correlation is between the disease and symptoms. I don't mean "database" like
pubmed. I mean something more machine readable with consistent coding so a
symptom might be "elevated IgM" in english. The trick is coding something like
that with consistent names for the tested item and consistent definitions of
"elevated". Perhaps the definition of elevated would depend on the disease?

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.

~~~
bluesign
The main problem here is human body works in mysterious ways.

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.

~~~
T2_t2
> \- too many illnesses (I guess 10% of top common health problems, covering
> 90% of all problems)

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?

------
lkrubner
It 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.

------
sungam
Schnitzler 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
Article said a dermatologist was consulted early on and who failed to make the
connection. Doesn’t support your ascertion.

~~~
sungam
Of 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.

~~~
DoreenMichele
But 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.

~~~
zaptheimpaler
How did you finally get a correct diagnosis? I am in the same boat, and in my
20s. I have been to some reputed doctors/institutions but none of them seem to
be in the least interested in my records or medical history or symptoms beyond
5 minutes, more in veiled accusations of being either a hypochondriac or an
uncooperative patient.

~~~
DoreenMichele
_How did you finally get a correct diagnosis?_

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.

------
tejtm
Hi HN

Clinical research types may find this still imperfect tool to be of use none
the less.

[https://monarchinitiative.org/disease/MONDO:0018304#phenotyp...](https://monarchinitiative.org/disease/MONDO:0018304#phenotypes)

Full disclosure: guilty guilty guilty

~~~
jtbayly
Is 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
That 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/layper...](https://human-phenotype-
ontology.github.io/2016/03/24/layperson.html)

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.

------
Someone
Surprisingly, 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
It'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.

------
mychael
I 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
Much 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.

~~~
beagle3
The 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:_D...](https://en.wikipedia.org/wiki/Base_rate_fallacy#Example_1:_Drunk_drivers)

------
datashovel
My 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
The 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.

------
m4lvin
Related startup: [http://www.pacmed.ai/en/](http://www.pacmed.ai/en/)

------
mrob
What 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)

------
drakonka
I 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.

------
camel_gopher
Am surprised that a Grand rounds was not convened for this. There's an online
service of the same name which has the same function.

------
solarkraft
I will not be reading this article because of its title.

------
bobhir
This was like a real life episode of Dr. House MD

------
leroy_masochist
TLDR: 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.

~~~
gaius
Right; it's like someone has watched too many episodes of House and thinks
that's how doctors are/should be.

~~~
com_kieffer
In this case it is the other way around. AFAIK Dr. Sanders was the inspiration
for House.

------
huffmsa
"Symptom Number Two will shock you!"

~~~
lawl
I'm not sure why you were downvoted. That title is pretty much the definition
of clickbait.

~~~
ghusbands
Maybe 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
Who 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
Something 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)

