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.

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.

That's.... interesting....

I've just had a look at the Marfan page (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!

Yes. Yes you should be tested.

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?

Not to mention wasting time that could have actually saved a life. MRI machines are highly expensive and there are always long waiting lists before you can get access to one because those things just don't grow on trees and are a limited resource (number of machines versus number of patients.)

Most doctors know better than to waste a MRI on someone that will not, in any way, benefit from it. Not when there are people with heart abnormalities or potential tumors to diagnose on the waiting list.

Unsurprisingly, the only people who agreed at first to do a MRI for his brother used an open MRI, which are far less precise than the closed ones, and usually reserved for the claustrophobic and morbidly obese. So he didn't take precious MRI time from people who actually needed it.

Obviously moral judgments in medicine can be incredibly difficult, but who's to say that this person's life might not have been drastically altered for the better ("saved") if a MRI scan 20-25 years earlier had revealed the cyst, so that could have been removed? Then the brain might have developed normally.

The point is that the condition is time-dependent because the brain develops most in a child's early years, and scanning early could make a difference.

Scan everyone and remove all the asymptomatic brain cysts just in case they cause problems in 20 years? Maybe we should also go back to removing everybody's tonsils just in case they develop tonsillitis later.

Number of times I've had tonsillitis since having my tonsils removed? Zero. Just sayin'.

Don't want to alarm you, but, be aware that you are at a higher risk for a heart attack[0][1] (and apparently various other ailments, although I can't find the other studies right now). The tonsils are apparently a "fore scout" of the immune system, and removing them hurts its effectiveness. (Similarly, the appendix is a cache of good bacteria which the body needs - removing it robs the body of the ability to repopulate those bacteria populations). Turns out those organs are not useless after all.

[0] http://www.sciencedaily.com/releases/2011/06/110601075128.ht...

[1] http://ki.se/en/news/increased-risk-of-heart-attack-after-ea...

You use exactly the same arguments as people selling mercury chelation or hyperbaric oxygen chambers or etc.

There's a huge list of horseshit peddled to people with autism (or more usually their parents).

http://www.autismsciencefoundation.org/what-is-autism/autism...

This isn't exactly horseshit though.. TFA is suggesting better diagnostics, categorization and research into variances in cysts and the cerebellum. As to the busy MRI schedule, it might get better if there were more of them and more usage... they are very costly, but so were computers back in the 1970's.

If a significant number of normal and autistic children/adults were scanned more of a matter of course (much like mammograms), then we might actually have better knowledge and improve real world treatment.

---- Edit for clarity

I understand that the sheer usage of mammograms has actually been shown to be a poor predictor in practice, the brain is a bit more complicated, and scanning/evaluating would take more practice... but the impact to society could be very large, indeed.

We already scan brains of people with ASD as a research practice.

Submitted article doesn't talk about this research, but talks about use of MRI for their own pet theory.

Not exactly the same, because this has absolutely nothing to do with mercury, and has support in journal articles that have not been retracted on account of scandal. Search on PubMed for yourself, or start here:

http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3677555/

The scams you mention are even discussed in the article. Did you read it? Or are you saying that MRIs are like chelation therapy?

The article does not ctrl-f to cysts, but I would be more interested to hear how you'd go about removing or treating a cyst in a developing brain 20-25 years ago. Any suggestions?

No wait, now I can :)

As you can see, the linked article concerns treating intracranial cerebrospinal fluid cysts when treating hydrocephalus (and is effective as far as I know). Now: what does this treatment have to do with the cyst presented in the original blog? The purpose of the shunt in your link is to allow venting of cerebrospinal fluid. Is the cb-fluid flow somehow blocked in the case of the autistic brother in the blog or is the cyst located in a place where shunting does not make any sense?

The cyst mentioned in the original article (and shown in the MRI image at the top) is a posterior fossa CSF cyst that most likely formed as the result of hydrocephalus. Basically, it's the same thing. This is an example of how confusing all of the terminology underlying autism is. In some patients, CSF cysts, hydrocephalus, Dandy-Walker Variant and "autism" may all be very much related or referring to the same thing.

And to your earlier point, that SpringerLink article shows that they've been draining such cysts with shunts since at least as early as 1985, even if they didn't necessarily know what leaving them in place might result in later in life.

What do you find confusing about these different medical conditions? Hydrocephalus is a condition that can arise from various defects in the brain, Dandy-walker is defined otherwise. Do you think that a CSF cyst is required for an individual to develop autism and if so, wouldn't the link be kind of obvious to medicine at this point?