“We don’t do autism”

I've been working with doctors for a while now trying to diagnose some issues, and while I share the author's frustrations (believe me, it can thrash your life to shreds if you let it), he seems to be falling into a danger zone that I have been warned about. Which is that "normal" ranges of almost every metric on the human body are not well defined lines. Rather, they describe a bell curve or measurements, such that 6% of the population will just naturally fall out of the "normal" ranges. So a number that is 5, 10, even 50% beyond normal does not necessarily indicate a problem. Not in the slightest. It could very well just be normal variations between humans. But people searching for answers tend get a laser focus on such things, thinking they have found the clue that will lead them to an answer. Most of the time, they have not.

And we who search for answers also hear the stories of others like us, spending years trying to get a diagnosis, who did find the one clue, and did follow that to a diagnosis and treatment, which turned out to be correct. But those stories are outliers. Most of the time, we are wrong.

Doctors know the numbers. They know that for every 100 people in our situation, 99% of them will have the common answers, and that why they treat us the way they do, and give us the advice they do.

But in this author's case, he had someone drill a hole in his brother's head. I'm not going to judge that decision, there are days I would try some pretty extreme things myself. But I can absolutely understand why doctors would not be jumping up to perform that procedure. And at the end of the day, it did not change his brother's condition.

In my mind, that is the real point of this story. Most of our own medical theories coming from our internet research are wrong. Not all. And I absolutely do not want to discourage people from seeking answers. You do need to be your own advocate in today's world. But I also have to believe that if you are asking for medical procedures and multiple doctors are turning you down, it is worth listening to their reasons.

EDIT: Yes, I stated the procedure incorrectly. Sorry about that. Please do not let my mistake detract from the larger point.

This is practically a textbook example of why we are not supposed to treat friends and family: the inability to take an objective view.

Two phrases in this article stands out for me: "I was certain that I had the right condition when I finally came across Dandy-Walker Variant", followed not long after by "The fit, given my brother’s behavior, was remarkably good."

This was accompanied by some trash-the-experts discussion of a perfectly reasonable deliberative process in an ambiguous case.

The author is experiencing a colossal case of a) denial (in the psychological defence mechanism sense) and b) confirmation bias, and put his brother through unnecessary procedures out of the resulting tunnel vision. He throws around terms like "hypothesis" without any conception of what it means to formulate and test one, and references journal articles as supporting evidence like a desperate defence lawyer on a bad police procedural show.

Having self-justified forcing his brother through invasive and unnecessary procedures, he demonstrates utter lack of self-awareness with: "I noticed was that his speech, which had always been slurred, seemed distinctly clearer and faster to me, and still does." Like most cranks, despite having tossed around the idea of a hypothesis, the author still excuses himself from making a quantitative study.

What happened here is that an emotionally burdened guardian has been afforded the latitude to conduct an unethical, statistically meaningless and unscientific medical experiment on a subject incapable of giving informed consent. In my moral view, it is solely the motivation (apparently) borne of fraternal concern that separates the author from some extremely gruesome historical figures.

The lesson for those of us who make decisions every day, from the technical to the human, is to recognise the red flags signalled by an overloaded, hopelessly biased mind - and adjust our credulity accordingly.

He spends a lot of time trashing the physicians because they won't do additional workup and chase MRI abnormalities. When he finally gets somebody to do something, he just put his brother in some temporary pain without any long lasting improvement.

Yes, the doctors debated on if he has this or that specific condition, because ultimately it didn't matter because he has a condition that isn't fixable. Doctors are best trained to identify what is fixable.

Disease states are fuzzy. Many times if somebody has a disease is not boolean in nature. However, all the doctors correctly predicted that current medical knowledge had nothing that would be helpful.

If they would have just believed the physicians, they would have saved some money and the patient some pain. Autism is an awful collection of diseases, but slamming the medical system in this case is not justified.

I was initially planning on writing this comment to retort a number of statements within this article, but there are far too many; additionally, they all seem to indicate a larger concept at work.

Let me first say that I commend this individual for going out and researching his brother's illness on his own. It is truly a dedicated family member to go to such lengths as to attempt to understand things to the level of physicians, and further to attempt to convince physicians of the "correct" answer.

The first and most practical issue I wish I had seen was a GP coordinating the care. In general, the overall goal is to have a single physician be "your" physician, who can coordinate the care among specialists. The general idea is to decrease the amount of repeated and unnecessary interventions by making sure everything is being done in a medically appropriate way; additionally, it provides the patient an opportunity to explain to a single provider his or her desires in seeking treatment, and to make sure that the specialists are informed of such goals as well.

However, he demonstrates a number a poor understanding of physician training and the role of the physician in today's society. First, on the issue of training: he seems to believe that all physicians graduate medical school and start practicing as full-fledged physicians. Rarely is that the case these days, as a residency is required in all or at least most specialties in order to qualify for sitting for the boards (the benefit is not only the additional training, but then insurance companies will actually pay for your work).

Lastly, on the role of physicians: While we've come a long way in the millennia since hippocrates, physicians do not know everything. They don't have every answer to every question, and they don't know the answer to your exact problem either. We still "practice" medicine, because we can't predict with complete certainty the outcome of every single case. At best, we can use intuition from experience and education, and science of the community to make our best assumptions. But medical providers will always be wrong, some percentage of the time.

My close friend in Canada has two children diagnosed with autism. The Canadian healthcare system has completely failed my friend's entire family. It is by far the biggest condemnation of Canada's health care system that I've seen.

His daughter was diagnosed with autism at age 3. In Canada, there is a 2.5 year long waiting list to get any sort of therapy to help her. If you want to do it privately, it costs $80k/yr, something my friend could never afford. I have another friend here in the Bay Area who is a pediatrician that specializes developmental disorders like autism, ADD, etc, and he was shocked and horrified that she would not be able to get any therapy is the two most important years of her life. He said Kaiser in CA has probably the very best therapy and assistance if your children are diagnosed with autism (although this is because of a lawsuit several years ago from someone who accused them of not doing enough).

His son was diagnosed at age 1.5 yrs, early this year, and again, he has to wait 2.5 years to get this therapy. Even worse, his son has had medical issues, and his shitty pediatricians seem to chalk everything up to his autism. For example, his son was suffering for months from ear infections, but because he couldn't verbalize it, all he could do was tug on his ear, scream, and vomit. They kept going to emergency and back to the pediatrician, begging for a referral for an ENT, and she refused. She said it was likely just the son being autistic. They were furious but they literally had no other options, except try to find a pediatrician who was actually accepting new patients, which is rare in his city. Finally, after several months of this poor boy suffering daily, one emergency room doctor said right away that he had an inner ear infection and needed to get tubes put in. This required getting a referral again from the original pediatrician for an ENT, and then the ENT making the decision that he needed the tubes inserted.

The appointment for the ENT is scheduled for November, and it was made in July.

As far as I can tell, the Canadian healthcare system has completely failed my friend at every step. Not only is therapy for his two children far too late, not only is the private option completely unaffordable, but the doctors are untrained to deal with autistic children, don't know how to diagnose properly for an autistic child, but also the waiting times are ridiculously long to the point where it's useless.

> Which is to say that it’s clear whatever condition the strident, proud autistics have, it’s not quite the same condition as one that leaves you epileptic, mute, and generally unable to care for yourself.

I can understand the anger here, but please understand that the problem goes both ways. Some high-functioning autistics don't seem to get that the condition can be absolutely crippling, but their belligerence stems from a lifetime of people refusing to admit that they exist or that their experiences have validity. It's frustrating when people who don't know me assume that I need help dressing myself because they knew someone whose kid was severely affected.

So what is the author saying? That some forms of autism might be due to a cyst in the brain that affects the cerebellum and the vermis, and if you remove the cyst in early childhood, the patient would end up leading a mostly normal life, cured of their autism?

The basic problem seems to be the broadness of the label "autism". This broadness makes it nearly impossible to talk about it, as someone who has the mildest of social interaction problems is lumped in with someone that goes into a rage over bright lights.

There’s a good reason why doctors have difficulties with rare diseases—which is, of course, the rarity itself.

> In medical school, aspiring doctors spend a few minutes at most on these relatively unusual conditions.

It would be unethical to spend a lot of time studying these conditions while many more people suffer from the more frequent ones.

Sooner than later, we’ll be able to solve, say, depression reliably via pills or vaccines or whatever, and then more rare diseases will be studied much better (likewise, there was little point in spending much time on depression when smallpox was around).

The author is getting at one of the most important things that people don't seem to understand about autism research affecting everything from cause diagnosis to potential treatments: because of the variations, getting control groups together is virtually impossible.

My wife used to offer one of the programs that's been around for about 20 years (Sensory Learning Program - aka The Bolles Method) that people can pay for out of pocket but insurance won't cover. In some patients we saw no benefit at all. In others the results were near miraculous. For example, in the span of 2 weeks (the length of the program) one 4 year old child who had never spoken went from zero to 50 words. His mother was in tears.

The people who developed the program in Colorado had numerous pieces of coverage, Wired even did an 8 part story on them but couldn't ever get an autism study together. Eventually they did manage to get a complete study through regarding PTSD because you could get a control group together for PTSD and it showed statistically significant changes (part of the program affects the amygdala and there was some crossover benefit).

The whole thing was both fascinating and shocking. When I found out about the program at first, I was an absolute skeptic too. Looks completely hokey, but for SOME people it works.

The problem is that they haven't been able to find a way to identify the type of people who will benefit significantly...and that is because of the difficulties of getting together a control group. I know there is one doctor in Indiana trying to classify the symptom patterns across the spectrum. He's worked hard to reduce them down...to about 4,000. Prior to the categorization and reduction he was sitting at closer to 200,000.

And the problem is that the second that you know that and you start reading headlines about a study "disproving X" regarding autism you click the link and realize that 9/10 times it's just a rehashed study on general public diagnostics...because nobody can get together a friggin control group.

I've worked with a range of children, some of them have been marked with interesting psychological conditions.

This was in the states, and I don't really believe that it would have happened in the UK.

A child in my care was presented to me as a "manic depressive" Said child was 7[1]. I Accepted the diagnosis unconditionally, I looked forward to interacting with a intelligent, communicative, but somewhat inhibited, or slothlike child (depending on phase and drugs)

This child had none of these traits. He had poor language skills, the inability to share, bugged by external stimulus, Terrible social skills, poor empathy and a few other things.

In otherwords he was in my view was on the autistic spectrum. (Other people more experienced, who dealt with him agreed with me)

The reason why it was so concerning was the drugs he was put on to combat his "depression". He was on lithium and other such lucrative expensive drugs. The problem with lithium is that withdrawal has a 30% risk of suicide.

The problem for me was that anyone with a tiny bit of medical training, could see he wasn't manic. Because the Psychiatrist was being paid by the hour, and prescription, his diagnosis wasn't going to change.

[1]Manic depression in prepubecents, is vanishingly rare. http://www.rcpsych.ac.uk/healthadvice/parentsandyouthinfo/pa...

Side note: There are private companies who will MRI any part of your body no questions asked. 15 years ago it was 1000$ for a full body MRI. Sections were much cheaper.

Point being, how hard would it be to take pre-existing MRI plates to a specialist and buy an hour of their time to just take a look?

The this I don't understand is why the author thinks a draining spinal fluid would improve things. A cyst is normally an enclosed sack of fluid, so draining spinal fluid is unlikely to do anything.

I would say its more likely to temporarily enlarge the cyst as the relative pressure would change.

A couple of years ago there were some researchers taking MRIs of adolescents and young adults with autism in Toronto. Not sure if anything came out of their research, though.

Is there an effort to use ML to process brain MRIs and predict the bestiary of autism-behaviors that are observed?

Is autism a purely U.S phenomenon? Has it been increasing in other countries? Is it of equal prevalence in all countries with modern medical infrastructure?