4 ms·

MD, PhD such as developmental or occupational psychiatrists or psychologists whom specialize in the particular spectrum of autism behaviors/impairments help mos

MD, PhD such as developmental or occupational psychiatrists or psychologists whom specialize in the particular spectrum of autism behaviors/impairments help most with coping skills, because there is no "magic cure" for autism at this point. I think some supporting caregivers get frustrated and take that out on others or blame the doctors when they're barking up the wrong trees, when they're just looking in the wrong places because they don't seek out support groups or more information. For example, what's sinister about one part of the spectrum , high-functioning autism, is that it isn't even looked at, much less labeled, and it's impossible to get SSIDI even if someone is unable to hold either a job or relationships. Finally, the author shouldn't feel terrible... I had Marfan Syndrome my entire life and am looking (not) forward to a valve replacement. I diagnosed it correctly myself after every doctor over (at the time) 35 years missed it entirely. Doctors are too busy, don't have time to get to know their patients or catch life-threatening, so you have to know your own body and become an MD yourself because few of them are actually any good.

dnautics 11y ago
I think that is somewhat common situation with Marfan Syndrome. I'm fairly familiar with it because a postdoc in my lab gave a talk about it (it was her previous research) and I don't forget things easily -- but anyways, my girlfriend - who is a transplant hepatologist - told me how in her first year of internship, one of her co-interns clearly had Marfan - she didn't say anything until a patient case came up and and she quizzed the co-intern on what underlying condition the patient had... The intern couldn't figure it out until she suggested Marfan's (and he did know what it was)... Then she pulled him aside, and suggested to him directly that he might also have the condition. He was stunned for a moment, and then proceeded to get a genetic test which confirmed her diagnosis.
QSIITurbo 11y ago
I'm under the impression that Marfan does not necessarily imply valvular defects. So are you certain that your doctors missed the Marfan (which is very easy to recognise in severe forms), or just that they did not bother to mention it (since there is no cure / need to treat)? The valvular defect was detected aurally, I presume?
someotheracct7 11y ago
That's.... interesting.... I've just had a look at the Marfan page (http://www.marfan.org/about/signs http://www.marfan.org/about/signs) and there's a lot that I seem to match there: long skinny body type, all my fingers are double jointed (not as flexible though as in some of those photos), flat feet, crowded teeth, I had congenital cataracts and also early-onset (around 2 years of age) glaucoma and had a spontaneous pneumothorax when I was around 18 (which wasn't severe but did recur once). Wondering if I should have the test. Well aware of the tendency to see oneself in medical articles though!
- davak 11y ago
  Yes. Yes you should be tested.

dnautics 11y ago

I think that is somewhat common situation with Marfan Syndrome. I'm fairly familiar with it because a postdoc in my lab gave a talk about it (it was her previous research) and I don't forget things easily -- but anyways, my girlfriend - who is a transplant hepatologist - told me how in her first year of internship, one of her co-interns clearly had Marfan - she didn't say anything until a patient case came up and and she quizzed the co-intern on what underlying condition the patient had... The intern couldn't figure it out until she suggested Marfan's (and he did know what it was)... Then she pulled him aside, and suggested to him directly that he might also have the condition. He was stunned for a moment, and then proceeded to get a genetic test which confirmed her diagnosis.

QSIITurbo 11y ago

I'm under the impression that Marfan does not necessarily imply valvular defects. So are you certain that your doctors missed the Marfan (which is very easy to recognise in severe forms), or just that they did not bother to mention it (since there is no cure / need to treat)? The valvular defect was detected aurally, I presume?

someotheracct7 11y ago

That's.... interesting.... I've just had a look at the Marfan page (http://www.marfan.org/about/signs http://www.marfan.org/about/signs) and there's a lot that I seem to match there: long skinny body type, all my fingers are double jointed (not as flexible though as in some of those photos), flat feet, crowded teeth, I had congenital cataracts and also early-onset (around 2 years of age) glaucoma and had a spontaneous pneumothorax when I was around 18 (which wasn't severe but did recur once). Wondering if I should have the test. Well aware of the tendency to see oneself in medical articles though!

davak 11y ago
Yes. Yes you should be tested.