4 ms·

I have a genetic disease that shows up in 4/100k people, so rare, but not that rare. Any sizable town has at least a few dozen people with my disease. In my ex

by zug 14y ago

I have a genetic disease that shows up in 4/100k people, so rare, but not that rare. Any sizable town has at least a few dozen people with my disease. In my experience, "an order of magnitude better" in specialists means they've at least heard of it, but know nothing about it. Every time I move, I have to spend some time educating my new specialist on the disease. I know damn well that every time one of them excuses themselves in the middle of the exam, they're going to look it up on the internet. It's pretty disheartening.

postfuturist 14y ago
Yep, it's also disheartening to see them holding a printout of one of the few articles available online, which I already know is pretty out-of-date and down-right wrong in places.
- its_so_on 14y ago
  Why don't you just tell them that you're pretty well-versed? Doctors are pretty smart. I wouldn't presume to say this is always appropriate, but depending on the rapport they might listen attentively to what you know from your own research (though they would probably check before acting on it.) Doctors know very well that a person with a specific rare disease has a lot more incentive to have spent in-depth research on it than they did when they last ran across it... I mean, these days there are whole forums dedicatd to a specific disease. If you told the doctor, "You know, I ran across a forum for people like me, a lot of people have said they had very bad results with (x) despite the clinical trials, so I would prefer (y)"...you don't think they would listen to you? Where is this attitude coming from?
  - postfuturist 14y ago
    You're making a lot of assumptions that aren't true. I regularly instruct doctors on my condition in detail, they do usually listen and are reasonable. However, I am often disappointed by the lack of depth of the research they do in advance of meeting (and billing me exorbitantly). Recently, my sister (same condition) drove a couple hours to see a specialist who had obviously not read her file or done any research and made some truly awful suggestions (one that could certainly have lead to her death if she had followed it). He billed her for the time. Doctors are like coders, some are orders of magnitude better than others. Some are so bad, they have a net negative impact on your health.
  - sgoranson 14y ago
    You speak like someone who probably hasn't spent a good chunk of their life as a patient. You are correct; the best doctors know the limit of their own knowledge and will respect a knowledgeable patient. I respect my top notch specialists more than anyone on the planet. But those are the best doctors. There are many more average and outright bad doctors, just like any other skilled profession. Some that can't keep their ego in check, some that just aren't very good at deconstructing a complex problem.
  - DanBC 14y ago
    > I mean, these days there are whole forums dedicatd to a specific disease. If you told the doctor, "You know, I ran across a forum for people like me, a lot of people have said they had very bad results with (x) despite the clinical trials, so I would prefer (y)"...you don't think they would listen to you? Forums can be full of people who are deluded or wrong or who just have weird ideas. See, for examples, morgellons[1] or anti-vaccine campaigners or etc. There are problems with medical research. The good results get reported, the results that fail to confirm do not get reported. But still, properly conducted research is very much better than a bunch of anecdote.
krschultz 14y ago
4/100k is still exceedingly rare. There are probably 100s or more diseases that show up in 5/100k so it's hard to know them all. Meanwhile the doctor probably sees the top 15 diseases all the time.. My girlfriend has a condition that affects 12% of the female population to a varying degree. Some doctors knew absolutely nothing about it. Some were able to solve it easily.
- bobbydavid 14y ago
  Sounds like bayesian probability. If the symptoms are 30% similar to a disease that 99.999% more common, and 70% similar to a disease that's 0.001% common, the doctor would still be correct most of the time by suggesting that the patient had the common disease, even though the symptoms were a better match to the rare disease.
heyitsnick 14y ago
> I have a genetic disease that shows up in 4/100k people, so rare, but not that rare. Any sizable town has at least a few dozen people with my disease. If one in 25k people has the disease, you need a 1 million+ population for city to have a 40 (a lowball "few dozen") incidences of the disease, assuming random distribution. There's only 10 cities in the United States that fit that description* and only London is big enough in the UK. There will be only 100 or so the medium sized states of say Utah or Nevada Takes a lot more than a medium sized town and that sounds extremely rare condition to me. I come from a medium sized town. Given your numbers, there's a good chance there is no one in the town has this disease and i wouldn't expect any of the doctors to be knowledgeable about it. https://en.wikipedia.org/wiki/List_of_United_States_cities_by_population https://en.wikipedia.org/wiki/List_of_United_States_cities_b... https://en.wikipedia.org/wiki/List_of_largest_United_Kingdom_settlements_by_population https://en.wikipedia.org/wiki/List_of_largest_United_Kingdom...

by zug 14y ago

postfuturist 14y ago

Yep, it's also disheartening to see them holding a printout of one of the few articles available online, which I already know is pretty out-of-date and down-right wrong in places.

its_so_on 14y ago
Why don't you just tell them that you're pretty well-versed? Doctors are pretty smart. I wouldn't presume to say this is always appropriate, but depending on the rapport they might listen attentively to what you know from your own research (though they would probably check before acting on it.) Doctors know very well that a person with a specific rare disease has a lot more incentive to have spent in-depth research on it than they did when they last ran across it... I mean, these days there are whole forums dedicatd to a specific disease. If you told the doctor, "You know, I ran across a forum for people like me, a lot of people have said they had very bad results with (x) despite the clinical trials, so I would prefer (y)"...you don't think they would listen to you? Where is this attitude coming from?
- postfuturist 14y ago
  You're making a lot of assumptions that aren't true. I regularly instruct doctors on my condition in detail, they do usually listen and are reasonable. However, I am often disappointed by the lack of depth of the research they do in advance of meeting (and billing me exorbitantly). Recently, my sister (same condition) drove a couple hours to see a specialist who had obviously not read her file or done any research and made some truly awful suggestions (one that could certainly have lead to her death if she had followed it). He billed her for the time. Doctors are like coders, some are orders of magnitude better than others. Some are so bad, they have a net negative impact on your health.
- sgoranson 14y ago
  You speak like someone who probably hasn't spent a good chunk of their life as a patient. You are correct; the best doctors know the limit of their own knowledge and will respect a knowledgeable patient. I respect my top notch specialists more than anyone on the planet. But those are the best doctors. There are many more average and outright bad doctors, just like any other skilled profession. Some that can't keep their ego in check, some that just aren't very good at deconstructing a complex problem.
- DanBC 14y ago
  > I mean, these days there are whole forums dedicatd to a specific disease. If you told the doctor, "You know, I ran across a forum for people like me, a lot of people have said they had very bad results with (x) despite the clinical trials, so I would prefer (y)"...you don't think they would listen to you? Forums can be full of people who are deluded or wrong or who just have weird ideas. See, for examples, morgellons[1] or anti-vaccine campaigners or etc. There are problems with medical research. The good results get reported, the results that fail to confirm do not get reported. But still, properly conducted research is very much better than a bunch of anecdote.

krschultz 14y ago

4/100k is still exceedingly rare. There are probably 100s or more diseases that show up in 5/100k so it's hard to know them all. Meanwhile the doctor probably sees the top 15 diseases all the time.. My girlfriend has a condition that affects 12% of the female population to a varying degree. Some doctors knew absolutely nothing about it. Some were able to solve it easily.

bobbydavid 14y ago
Sounds like bayesian probability. If the symptoms are 30% similar to a disease that 99.999% more common, and 70% similar to a disease that's 0.001% common, the doctor would still be correct most of the time by suggesting that the patient had the common disease, even though the symptoms were a better match to the rare disease.

heyitsnick 14y ago

> I have a genetic disease that shows up in 4/100k people, so rare, but not that rare. Any sizable town has at least a few dozen people with my disease. If one in 25k people has the disease, you need a 1 million+ population for city to have a 40 (a lowball "few dozen") incidences of the disease, assuming random distribution. There's only 10 cities in the United States that fit that description* and only London is big enough in the UK. There will be only 100 or so the medium sized states of say Utah or Nevada Takes a lot more than a medium sized town and that sounds extremely rare condition to me. I come from a medium sized town. Given your numbers, there's a good chance there is no one in the town has this disease and i wouldn't expect any of the doctors to be knowledgeable about it. https://en.wikipedia.org/wiki/List_of_United_States_cities_by_population https://en.wikipedia.org/wiki/List_of_United_States_cities_b... https://en.wikipedia.org/wiki/List_of_largest_United_Kingdom_settlements_by_population https://en.wikipedia.org/wiki/List_of_largest_United_Kingdom...