8 ms·

“We don’t do autism”

177 points by thinkcomp 11y ago

pragone 11y ago
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.
- fezz 11y ago
  In dealing with tough problems like Autism, unknown autoimmune disorders, etc. Trusting a physician or even many physicians to make the right diagnosis is a gamble. It's even harder to find a physician who truly listens to the patient/family. After much struggle with my sons rare condition, we found a physician who was able to help diagnose the problem. At one point he said "Your experiences in dealing the problem and the things your try that succeed and fail are far more important than my training... I'm here to help by listening and adding my experience" In the case of a disease that I had, after seeing many many doctors and a year of tests, it was my dad on the periphery who figured it out exactly and then sent me to the right specialist. Doctors are right some percentage of the time, but patients/families can have a great effect on coming to the right diagnosis.
  - pragone 11y ago
    I agree wholeheartedly. That is a very wise physician you found. I've had many great experiences with patients and their families who have dealt with serious, chronic illnesses, and, as a result, my treatment often relies heavily on their knowledge and experience with that specific individuals needs and disease processes.
- riggins 11y ago
  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?
  - pragone 11y ago
    Interesting. I did not make that assumption, but you may very well be correct. I understood the first comment as merely an assumption, rather than personal experience. Again, I may be wrong. I would expect a physician to have an easier time convincing colleagues to run something as non-invasive as an MRI, but that may no longer be the case in many institutions.
  - et2o 11y ago
    The author is not an MD and has not attended medical school.
    - riggins 11y ago
      how were you able to determine that?
      - et2o 11y ago
        "[...] 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.
- rustynails 11y ago
  This article is a very mixed bag, as you pointed out. The author clearly went down his brother's rabbit hole - very narrowly focussed and coming to a set of conclusions. I did a similar thing with my child and probably still do. I consider my child to be an Aspergers. Very bright (98th and 99th percentile in almost all areas measured under WISC, or the Weschler Scale). Along with it came violence and a lack of empathy and poor social skills. I was at (or called by) the school almost 5 days a week for behaviour issues before diagnosis. Like the author of the article, most people I spoke to left me feeling they knew nothing, until I found an Occupational Therapist (someone who considers environmental factors that impact an individual). We've ended up with a reasonable success story after 3 years of intense focus. It could be time, management or both that made the difference. There are too many things to rebut in this article. Yes, it's an industry where the overwhelming majority seem clueless beyond diagnosis. Spectrum is used elsewhere to describe one attribute varying: get over it - here, it describes a variation of behaviours and symptoms, a simple model to aid discussions. I am sure many types of autism can not be cured. It's not a disease because in many cases, it requires management/therapy to lead a normal life (as per my child). I would not call that political correctness, just common sense. I'm not going to reread the article to critique on more detail as it was too fragmented and too negative. However, if you are starting out as a family member of someone with autism, I do not recommend this article in the early days. Find someone who can do more than diagnose symptoms: you need someone with suggestions. Most experts will bamboozle with double speak of promises and uncertainty. The ones that I found who knew their stuff pinpointed solutions in 1 session. I found 2 experts that I had confidence in.
shakil 11y ago
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?
- thinkcomp 11y ago
  That's one possible conclusion. More broadly, the morphology of the cerebellum matters a great deal, and minute differences from person to person A) could explain why autism appears to have such a broad array of symptoms and severities; B) have been largely ignored by medicine for decades due to mistaken convention, deep confusion among physicians over medical terminology (mega cisterna magna versus DWV) and a tendency for doctors to throw their hands in the air the minute they hear "autism" because it's simply accepted that it's too complex to diagnose; and C) suggest that brain MRIs may be the most cost-effective cost-preventive diagnostic tool available for those with autism diagnoses--which doctors hardly ever recommend due to (B).
  - shakil 11y ago
    Why am I getting down voted? I'm just trying to understand the article. If you disagree with the article's conclusion, its the author's hypothesis not mine. He even cites cases of children whose cysts were surgically treated and now lead normal lives.
    - rustynails 11y ago
      These were certainly important points of the article. However, it was a shotgun blast that covered much more, incompetent medical profession, inconsistent terminology causing confusion, stonewalls for patients diagnosed with autism, etc. it tried to capture too much in too little space.
      - tracker1 11y ago
        I would think that someone would work to categorize variance in the physical and personality affects of autism... much like Myers-Briggs for personality in general. It seems to me that it should have been broken down into sub-categories (not as the article suggests in terms of cyst affect, but in terms of autism in general... they call it a spectrum, but really what is that spectrum and how is it defined. If different characteristic behaviors are given, why not just box them up in an N-by-N grid (max 4 options over 4 behaviors), which would help categorize. I also feel that having some MRI development scans would definitely help with correlation of data here. No, not every case would be treated, but it certainly could get better in terms of diagnosis and being able to make predictions. Imagine if all children were scanned at 6mo, 1yo and every other year until 18... that would be much more valuable data to humanity than some other uses of big data storage out there. In this case removing the cyst early might have helped... I don't think that would be the case most of the time... but by not having a better picture, it doesn't help. We're in a first-world nation and outspend the rest of the world combined in our millitary... we really couldn't get a couple more MRI machines per hospital to handle the capacity? They don't all need to be high resolution scans to point to more information either. I agree with the comments of many that this confuses and dillutes a few points... that said, it's not a medical paper, it's a blog article pointing out frustration in a lack of diagnostics that could help a lot of people.
PhasmaFelis 11y ago
> 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.
- DanBC 11y ago
  Yes. Also many people with ASD recognise that they're on one end of a spectrum, and while they focus on that end they recognise the abuse and maltreatment (from crooks and scammers; from abusive carers; from abusive staff; etc) and they campaign to fix those problems. (At least this is true in the UK.)
  - rustynails 11y ago
    Another aspect is parents. My wife and I had strong arguments about our child. She refused to accept our child had a problem because she has similar traits. If a parent can't look past their own faults, therapy will not make a difference. It wasn't until a few brave souls approached me that I had a basis to engage my wife that it wasn't me making it up. She misdiagnosed many things on the journey. I feel the need to clarify something. In most ways, my wife is amazing. Very strong willed, clever, independent. She is the only partner I could work with as an equal. As we've worked things through for our child, she's benefitted in many ways too. Not surprisingly, my child's behaviour is like my father in law.
- Mz 11y ago
  Part of the problem is that autism significantly impacts social function. So does prejudice. So the minute you label someone as autistic, it becomes incredibly difficult to say how much of their daily challenge is due to inability to perform socially and how much is due to other people perceiving them differently and treating them differently. The other thing is that many traits seen in autistic individuals and used to label them as defective are also seen in other situations and not viewed as pathology. One example I know of firsthand: The tendency to be very literal is also seen in highly intelligent and highly educated individuals and is a hallmark of good scientific work. But in a person diagnosed with autism, it is pathologized rather than praised as a virtue. It's a complicated situation. Edit: I apologize. I am leaving the comment here, but I feel like I replied to the wrong person somehow. Perhaps it should have just been a general comment and not a reply to. I have two sons who are not formally diagnosed but likely would qualify for a diagnosis somewhere on the spectrum. I have nothing but sympathy for your frustration.
davak 11y ago
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 11y ago
  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.
codingdave 11y ago
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 11y ago
  > 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.
  - 11y ago
cbhl 11y ago
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.
digi_owl 11y ago
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.
- deleted 11y ago
  [deleted]
- Gibbon1 11y ago
  '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.
- DanBC 11y ago
  > the mildest of social interaction problems That's not ASD. People misusing a diagnosis is a problem. But if they're misusing the current diagnosis why won't they misuse a new diagnosis?
baoyu 11y ago
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 11y ago
  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.
baoyu 11y ago
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).
dnautics 11y ago
Is there an effort to use ML to process brain MRIs and predict the bestiary of autism-behaviors that are observed?
narrator 11y ago
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 11y ago
  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 11y ago
    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 11y ago
      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 11y ago
        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.
steven2012 11y ago
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 11y ago
  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.
FrankenPC 11y ago
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?
inopinatus 11y ago
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.
brightball 11y ago
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 11y ago
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/parentscarers/bipolaraffectivedisorder.aspx http://www.rcpsych.ac.uk/healthadvice/parentsandyouthinfo/pa...
- DanBC 11y ago
  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-4484-abb0-7d8e66892e7d http://www.coventrywarksapc.nhs.uk/mf.ashx?ID=425e5245-157c-... > 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 11y ago
    I stand corrected. I wonder if NHS prices, which are normally quite good translate into American prices?
    - QSIITurbo 11y ago
KaiserPro 11y ago
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.

177 points by thinkcomp 11y ago

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.

fezz 11y ago
In dealing with tough problems like Autism, unknown autoimmune disorders, etc. Trusting a physician or even many physicians to make the right diagnosis is a gamble. It's even harder to find a physician who truly listens to the patient/family. After much struggle with my sons rare condition, we found a physician who was able to help diagnose the problem. At one point he said "Your experiences in dealing the problem and the things your try that succeed and fail are far more important than my training... I'm here to help by listening and adding my experience" In the case of a disease that I had, after seeing many many doctors and a year of tests, it was my dad on the periphery who figured it out exactly and then sent me to the right specialist. Doctors are right some percentage of the time, but patients/families can have a great effect on coming to the right diagnosis.
- pragone 11y ago
  I agree wholeheartedly. That is a very wise physician you found. I've had many great experiences with patients and their families who have dealt with serious, chronic illnesses, and, as a result, my treatment often relies heavily on their knowledge and experience with that specific individuals needs and disease processes.
riggins 11y ago
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?
- pragone 11y ago
  Interesting. I did not make that assumption, but you may very well be correct. I understood the first comment as merely an assumption, rather than personal experience. Again, I may be wrong. I would expect a physician to have an easier time convincing colleagues to run something as non-invasive as an MRI, but that may no longer be the case in many institutions.
- et2o 11y ago
  The author is not an MD and has not attended medical school.
  - riggins 11y ago
    how were you able to determine that?
    - et2o 11y ago
      "[...] 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.
rustynails 11y ago
This article is a very mixed bag, as you pointed out. The author clearly went down his brother's rabbit hole - very narrowly focussed and coming to a set of conclusions. I did a similar thing with my child and probably still do. I consider my child to be an Aspergers. Very bright (98th and 99th percentile in almost all areas measured under WISC, or the Weschler Scale). Along with it came violence and a lack of empathy and poor social skills. I was at (or called by) the school almost 5 days a week for behaviour issues before diagnosis. Like the author of the article, most people I spoke to left me feeling they knew nothing, until I found an Occupational Therapist (someone who considers environmental factors that impact an individual). We've ended up with a reasonable success story after 3 years of intense focus. It could be time, management or both that made the difference. There are too many things to rebut in this article. Yes, it's an industry where the overwhelming majority seem clueless beyond diagnosis. Spectrum is used elsewhere to describe one attribute varying: get over it - here, it describes a variation of behaviours and symptoms, a simple model to aid discussions. I am sure many types of autism can not be cured. It's not a disease because in many cases, it requires management/therapy to lead a normal life (as per my child). I would not call that political correctness, just common sense. I'm not going to reread the article to critique on more detail as it was too fragmented and too negative. However, if you are starting out as a family member of someone with autism, I do not recommend this article in the early days. Find someone who can do more than diagnose symptoms: you need someone with suggestions. Most experts will bamboozle with double speak of promises and uncertainty. The ones that I found who knew their stuff pinpointed solutions in 1 session. I found 2 experts that I had confidence in.

shakil 11y ago

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?

thinkcomp 11y ago
That's one possible conclusion. More broadly, the morphology of the cerebellum matters a great deal, and minute differences from person to person A) could explain why autism appears to have such a broad array of symptoms and severities; B) have been largely ignored by medicine for decades due to mistaken convention, deep confusion among physicians over medical terminology (mega cisterna magna versus DWV) and a tendency for doctors to throw their hands in the air the minute they hear "autism" because it's simply accepted that it's too complex to diagnose; and C) suggest that brain MRIs may be the most cost-effective cost-preventive diagnostic tool available for those with autism diagnoses--which doctors hardly ever recommend due to (B).
- shakil 11y ago
  Why am I getting down voted? I'm just trying to understand the article. If you disagree with the article's conclusion, its the author's hypothesis not mine. He even cites cases of children whose cysts were surgically treated and now lead normal lives.
  - rustynails 11y ago
    These were certainly important points of the article. However, it was a shotgun blast that covered much more, incompetent medical profession, inconsistent terminology causing confusion, stonewalls for patients diagnosed with autism, etc. it tried to capture too much in too little space.
    - tracker1 11y ago
      I would think that someone would work to categorize variance in the physical and personality affects of autism... much like Myers-Briggs for personality in general. It seems to me that it should have been broken down into sub-categories (not as the article suggests in terms of cyst affect, but in terms of autism in general... they call it a spectrum, but really what is that spectrum and how is it defined. If different characteristic behaviors are given, why not just box them up in an N-by-N grid (max 4 options over 4 behaviors), which would help categorize. I also feel that having some MRI development scans would definitely help with correlation of data here. No, not every case would be treated, but it certainly could get better in terms of diagnosis and being able to make predictions. Imagine if all children were scanned at 6mo, 1yo and every other year until 18... that would be much more valuable data to humanity than some other uses of big data storage out there. In this case removing the cyst early might have helped... I don't think that would be the case most of the time... but by not having a better picture, it doesn't help. We're in a first-world nation and outspend the rest of the world combined in our millitary... we really couldn't get a couple more MRI machines per hospital to handle the capacity? They don't all need to be high resolution scans to point to more information either. I agree with the comments of many that this confuses and dillutes a few points... that said, it's not a medical paper, it's a blog article pointing out frustration in a lack of diagnostics that could help a lot of people.

PhasmaFelis 11y ago

> 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.

DanBC 11y ago
Yes. Also many people with ASD recognise that they're on one end of a spectrum, and while they focus on that end they recognise the abuse and maltreatment (from crooks and scammers; from abusive carers; from abusive staff; etc) and they campaign to fix those problems. (At least this is true in the UK.)
- rustynails 11y ago
  Another aspect is parents. My wife and I had strong arguments about our child. She refused to accept our child had a problem because she has similar traits. If a parent can't look past their own faults, therapy will not make a difference. It wasn't until a few brave souls approached me that I had a basis to engage my wife that it wasn't me making it up. She misdiagnosed many things on the journey. I feel the need to clarify something. In most ways, my wife is amazing. Very strong willed, clever, independent. She is the only partner I could work with as an equal. As we've worked things through for our child, she's benefitted in many ways too. Not surprisingly, my child's behaviour is like my father in law.
Mz 11y ago
Part of the problem is that autism significantly impacts social function. So does prejudice. So the minute you label someone as autistic, it becomes incredibly difficult to say how much of their daily challenge is due to inability to perform socially and how much is due to other people perceiving them differently and treating them differently. The other thing is that many traits seen in autistic individuals and used to label them as defective are also seen in other situations and not viewed as pathology. One example I know of firsthand: The tendency to be very literal is also seen in highly intelligent and highly educated individuals and is a hallmark of good scientific work. But in a person diagnosed with autism, it is pathologized rather than praised as a virtue. It's a complicated situation. Edit: I apologize. I am leaving the comment here, but I feel like I replied to the wrong person somehow. Perhaps it should have just been a general comment and not a reply to. I have two sons who are not formally diagnosed but likely would qualify for a diagnosis somewhere on the spectrum. I have nothing but sympathy for your frustration.

davak 11y ago

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 11y ago
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.

codingdave 11y ago

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 11y ago
> 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.
- 11y ago

cbhl 11y ago

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.

digi_owl 11y ago

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.

deleted 11y ago
[deleted]
Gibbon1 11y ago
'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.
DanBC 11y ago
> the mildest of social interaction problems That's not ASD. People misusing a diagnosis is a problem. But if they're misusing the current diagnosis why won't they misuse a new diagnosis?

baoyu 11y ago

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 11y ago
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.

baoyu 11y ago

dnautics 11y ago

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

narrator 11y ago

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 11y ago
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 11y ago
  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 11y ago
    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 11y ago
      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.

steven2012 11y ago

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 11y ago
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.

FrankenPC 11y ago

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?

inopinatus 11y ago

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.

brightball 11y ago

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 11y ago

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/parentscarers/bipolaraffectivedisorder.aspx http://www.rcpsych.ac.uk/healthadvice/parentsandyouthinfo/pa...

DanBC 11y ago
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-4484-abb0-7d8e66892e7d http://www.coventrywarksapc.nhs.uk/mf.ashx?ID=425e5245-157c-... > 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 11y ago
  I stand corrected. I wonder if NHS prices, which are normally quite good translate into American prices?
  - QSIITurbo 11y ago

KaiserPro 11y ago

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.