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Her Various Symptoms Seemed Unrelated, Then One Doctor Put It All Together

nytimes.com

111–118 of 118 posts

Re: Her Various Symptoms Seemed Unrelated, Then One Doctor Put It All Together

#111

Earlier quoted context omitted.

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 teste…

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 (sta…

> - 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?

Re: Her Various Symptoms Seemed Unrelated, Then One Doctor Put It All Together

#112
post #33

Earlier quoted context omitted.

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.

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 get…

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.

Re: Her Various Symptoms Seemed Unrelated, Then One Doctor Put It All Together

#113

Earlier quoted context omitted.

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 get…

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.

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.

Re: Her Various Symptoms Seemed Unrelated, Then One Doctor Put It All Together

#114

Earlier quoted context omitted.

Don'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.

There was a now-defunct attempt at this called MetaMed: https://en.m.wikipedia.org/wiki/MetaMed I'm curious if any others have succeeded.

It 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-sy...

Re: Her Various Symptoms Seemed Unrelated, Then One Doctor Put It All Together

#115
post #4
post #2

> 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:…

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.

Yes, 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.

Re: Her Various Symptoms Seemed Unrelated, Then One Doctor Put It All Together

#116
post #2

> 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:…

There's an analogy here for software and engineering too. Getting to root cause and finding solid solutions - takes curiosity, energy... and time.

You know what they call software organizations that don’t have time to do this? “Fast paced”

Re: Her Various Symptoms Seemed Unrelated, Then One Doctor Put It All Together

#117
post #2

> 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:…

Well, I suppose he could end up in a country where health isn’t in the insurance straitjacket

Re: Her Various Symptoms Seemed Unrelated, Then One Doctor Put It All Together

#118
post #72
post #69

Earlier quoted context omitted.

> 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. 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.

I'm guessing they're just pattern matching as most of the time, they'd probably be correct.

Yep, that makes sense... problem is when something doesn't match the patterns, they just shrug and give up.
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