
“We don’t do autism” - thinkcomp
https://medium.com/@AutismJohnDoe/we-don-t-do-autism-d6de9d4f8913
======
codingdave
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.

~~~
shakil
> But in this author's case, he had someone drill a hole in his brother's
> head.

A lumbar puncture is a spinal tap in the lower back. Definitely highly
invasive, but somewhat less severe than drilling a hole in the head.

~~~
codingdave
Ah, I am coming off a surgery myself, I'll blame the anesthesia for my reading
comprehension.

------
inopinatus
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.

------
davak
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.

~~~
bro-stick
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.

~~~
someotheracct7
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
Yes. Yes you should be tested.

------
pragone
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.

~~~
riggins
I assumed that the author is himself an MD in another speciality.

1\. The quote below. The most likely way the author would know this is that
the author went to med school. Its possible the author interviewed MDs about
their med school experience, but seems less likely.

 _In medical school, aspiring doctors spend a few minutes at most on these
relatively unusual conditions, which are thought of, and taught as, rare. By
the time many begin practicing medicine, many doctors aren’t even aware of the
minute distinctions on the sub-spectrum of posterior fossa cysts, if they ever
really understood them at all._

2.

 _I come, after all, from a family of doctors educated at “top” institutions.
How could it really be possible that despite decades of intense trying as
educated, middle-class people, we knew absolutely nothing?_

~~~
et2o
The author is not an MD and has not attended medical school.

~~~
riggins
how were you able to determine that?

~~~
et2o
"[...] my hypothesis about the true nature of my brother’s condition — the
hypothesis of a non-MD, it is important to note [...]"

In the first paragraph of the story.

------
steven2012
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.

~~~
thinkcomp
Ear infections are common with autism and consistent with moderate
hydrocephalus, which might be a sign of cerebellar dysmorphism. Increased
intracranial pressure can distort the shape of the skull making it slightly
bigger, leaving extra space for infectious bacteria, especially with exposure
to water. DWV also results in the ears being placed slightly lower than normal
(or maybe the rest of the head just looks bigger).

Your friend should definitely see an ENT to get any infections cleared up, but
an MRI wouldn't be the worst idea, either.

~~~
kuschku
Interestingly, this is exactly what happened to me – luckily I did not need
tubes, but it could be surgically fixed.

I was also diagnosed with autism, but am on the low end of the spectrum – I
barely qualify as asperger, and while it was bad in early middle school (just
using violence, hitting heat against walls, etc), by the time I finished high
school, it was not diagnosable anymore.

------
PhasmaFelis
> _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.

~~~
Asbostos
The author is being a bit prejudiced by saying her severe examples are somehow
not acceptable while more high functioning ones are. Most people are unable to
care for themselves. We depend on others to help provide food and water for
us, accommodation, etc. Most of us won't stay alive if we're isolated from the
support of other people we depend on. Some autistic people with more extreme
cases not only can't provide their own food, but also can't put on their own
clothes. That's just a tighter dependency but not distinctly bad.

I've heard similar arguments about Downs syndrome. Some people want to prevent
it, but others say let's embrace it and recognize that the patients are still
people who still get to experience life just like the rest of us. They might
not be capable of some things we are, but hey, we're not capable of some
things a superhuman AGI robot would be either. We wouldn't want to sterilize
all humans just because intelligent robots appear and we feel our life has
become relatively worthless.

~~~
CydeWeys
> Most people are unable to care for themselves. We depend on others to help
> provide food and water for us, accommodation, etc. Most of us won't stay
> alive if we're isolated from the support of other people we depend on. Some
> autistic people with more extreme cases not only can't provide their own
> food, but also can't put on their own clothes.

Did you mean to say "Most [autistic] people" in the first line? Because if you
didn't, then your comment seems like a non sequitur to me. Of course most
people can take care of themselves. If they didn't, then society would
collapse, as there would be more people requiring care than those able to give
care.

This discussion isn't about the interconnectedness of the modern world. Yes,
we no longer live in a hunter-gather society, and most people probably
couldn't farm their own crops or hunt their own game, but that's not what we
mean when we're talking about people who are unable to care for themselves.
What we mean is someone who is unable to earn money, who cannot navigate
purchasing food at grocery stores, who cannot arrange their own accommodation.

I live in Manhattan -- because there is no game to hunt here and no available
land to farm, would you truly paint me as someone "unable to care for
themselves" simply because I have to subsist on food from grocery stores and
restaurants that is trucked in from farms in areas with less expensive real
estate? Similarly for water that comes from the municipal water supply?

------
shakil
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?

~~~
neurotech1
Its possible that the cyst might worsen symptoms associated with an Autistic
Spectrum Disorder, although treatment wouldn't completely cure the patient.
There is an above average rate of Hydrocephalus [0], particularly Normal
Pressure Hydrocephalus [1] (NPH) and other forms of Hydrocephalus, as well as
Spina Bifida [2], associated with Autistic Spectrum Disorders.

The worst part is that moderately severe symptoms of NPH, including severe
headaches can sometimes present similar to ASD in children.

There is some (but not conclusive) references in the medical journals.

[0]
[http://www.ncbi.nlm.nih.gov/pubmed/16502210](http://www.ncbi.nlm.nih.gov/pubmed/16502210)

[1]
[https://en.wikipedia.org/wiki/Normal_pressure_hydrocephalus](https://en.wikipedia.org/wiki/Normal_pressure_hydrocephalus)

[2]
[https://en.wikipedia.org/wiki/Spina_bifida](https://en.wikipedia.org/wiki/Spina_bifida)

Disclaimer: I'm not a physician etc. although I did record dozens of EEGs on
Autistic Spectrum Disorder patients

~~~
darkmighty
What disturbs me the most is: are we really _not_ taking MRIs of most autistic
patients? How come we don't have enough data to draw clear correlations?

I'm not a physician either, but it seems a perfectly valid, testable
hypothesis that a cerebellar cyst is the cause of the author's brother
condition, and this kind of malformation bears an impact on those conditions
at large.

~~~
thinkcomp
Definitely not. Ask most doctors if an MRI is warranted for an autism
diagnosis and they'll laugh at you.

~~~
yellowapple
I don't see why laughter would be warranted for such a question. Yeah, MRIs
are expensive, but wouldn't measurement of the brain's internals among those
with autism be helpful in identifying the contributing factors and - maybe
someday - a proper treatment?

~~~
DanBC
You've proposed the reasonable step of using MRI to scan the brains of people
with ASD diagnoses. That's already happening. We could probably do more of it.
[http://www.nhs.uk/news/2010/12December/Pages/new-brain-
scan-...](http://www.nhs.uk/news/2010/12December/Pages/new-brain-scan-
diagnose-autism.aspx)

[http://autism-center.ucsd.edu/what-causes-
autism/Pages/fmri....](http://autism-center.ucsd.edu/what-causes-
autism/Pages/fmri.aspx)

Parent post is talking about scanning an individual. That's less useful. The
second link I provide gives some reasoning: ASD is often suspected early. Many
parents recognise somethings are different at about two years of age. You
can't put an awake two year old in an MRI machine because you need the scanned
person to stay still.

------
digi_owl
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.

~~~
Gibbon1
'Autism' is useful if you need a diagnostic code in order to get a kid certain
types of support. It's absolutely useless as a medical diagnosis.

------
baoyu
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).

~~~
maratd
[https://en.wikipedia.org/wiki/Autism](https://en.wikipedia.org/wiki/Autism)

> About 1.5% of children in the United States (one in 68) are diagnosed with
> ASD as of 2014

That's not rare.

Doctors have difficulty with ASD because it's triggered by genetics, but also
by environment, and manifests uniquely in every individual.

------
brightball
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.

------
KaiserPro
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...](http://www.rcpsych.ac.uk/healthadvice/parentsandyouthinfo/parentscarers/bipolaraffectivedisorder.aspx)

~~~
DanBC
I agree this child was misdiagnosed and was receiving the wrong, dangerous,
treatment.

But lithium is not expensive. Lithium is dirt cheap.

[http://www.coventrywarksapc.nhs.uk/mf.ashx?ID=425e5245-157c-...](http://www.coventrywarksapc.nhs.uk/mf.ashx?ID=425e5245-157c-4484-abb0-7d8e66892e7d)

> Cost: For 800mg/day lithium carbonate or equivalent, at April 2015 dm+d
> prices, one year’s treatment costs

> Priadel® 400mg tablets £25

> Camcolit® 400mg tablets £31

> Priadel® liquid £273

~~~
KaiserPro
I stand corrected.

I wonder if NHS prices, which are normally quite good translate into American
prices?

~~~
QSIITurbo
Lithium (carbonate) is a very old drug, cheap to manufacture, and non-
patentable. It is essentially the lithium (metal) salt of carbonate (bubbling
water). It is super cheap everywhere.

While you might think so, I don't think it's a fact that the psychiatrist
would run out of patients without this child being diagnosed with bipolar.

------
FrankenPC
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?

------
KaiserPro
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.

------
cbhl
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.

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

------
narrator
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?

~~~
joesmo
I think you're thinking of ADD/ADHD, which is a US based phenomenon/pseudo-
disease. Autism is indeed a real disease: [http://www.autism-society.org/what-
is/facts-and-statistics/](http://www.autism-society.org/what-is/facts-and-
statistics/)

~~~
Others
I don't think that people should label disorders diagnosed by real
psychologists as "pseudo-diseases". As far as ADHD being a US disease, can I
link to:
[http://www.ncbi.nlm.nih.gov/pmc/articles/PMC1525089/](http://www.ncbi.nlm.nih.gov/pmc/articles/PMC1525089/)?

~~~
scholia
Real science is just about universal, whereas non-science varies with
geography and fashion.

I'd be happier with "real phsychologists" if they were closer to the "real
science" end of the spectrum. More like, for example, neuro-scientists, and
less like psychiatrists.

Seems to me this story is about someone looking for real neuro-science and not
getting enough of it. Whether that's the right quest is another matter: I
don't know enough to know.

~~~
CydeWeys
You're using "universal" in a sense that is unfair. Science isn't universal in
the sense that any finding must apply globally while ignoring contextual
factors. There all sorts of ways in which differing geography, cultural
practices, genetics, environmental factors, prevailing diet, etc., etc., can
and do create differences in observed diseases. It's unfair and wrong to say
that something is unscientific because it manifests in some places but not in
others.

~~~
scholia
Hm, don't think so. Real sciences such as maths, physics, chemistry, biology,
geology etc apply globally and, indeed, beyond globally. The science of
genetics is global even though genes vary with geography. Real science is also
consistent over time, even though it changes when new information is added.

This is different from, say, religion, fashion, and psychiatry.

