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.
Her Various Symptoms Seemed Unrelated, Then One Doctor Put It All Together
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Re: Her Various Symptoms Seemed Unrelated, Then One Doctor Put It All Together
#12Re: Her Various Symptoms Seemed Unrelated, Then One Doctor Put It All Together
#13> 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.
Re: Her Various Symptoms Seemed Unrelated, Then One Doctor Put It All Together
#14Earlier quoted context omitted.
> 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.
You 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 rea…
I thought you were proposing just forgetting about insurance and having the doctor's time paid for by magic.
Re: Her Various Symptoms Seemed Unrelated, Then One Doctor Put It All Together
#15TLDR: 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.
Thanks, 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
Re: Her Various Symptoms Seemed Unrelated, Then One Doctor Put It All Together
#16> 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 d…
Pubmed 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.
Re: Her Various Symptoms Seemed Unrelated, Then One Doctor Put It All Together
#17"Symptom Number Two will shock you!"
I'm not sure why you were downvoted. That title is pretty much the definition of clickbait.
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.
Re: Her Various Symptoms Seemed Unrelated, Then One Doctor Put It All Together
#18TLDR: 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.
>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.
Re: Her Various Symptoms Seemed Unrelated, Then One Doctor Put It All Together
#19This was like a real life episode of Dr. House MD
Re: Her Various Symptoms Seemed Unrelated, Then One Doctor Put It All Together
#20TLDR: 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.
Thanks, 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
Thanks. 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.