“We don’t do autism.” That’s what I heard in December of 2014, when I called three neurology departments at major medical institutions in the Chicago area. I nearly dropped the phone the first time I heard it. But then it happened again. And again. No hospital in Chicago, a city I had always thought of as being a significant American metropolis, would “do autism.” My brother, in his late twenties with autism, needed to see a doctor. Only two months before, during a family visit, my calculated attempt to get him to think reasonably about social interaction had ended in a mildly violent physical altercation severe enough for me to re-evaluate what I thought I knew about his state. Once, he had lifted me off the ground against my wishes, but this was something new and horrible; something that demanded investigation. I left Chicago with a purple toe and a small wound on my palm where some piece of furniture had made an unexpected temporary appearance.

The fourth neurology department I called agreed to set up an appointment, but on the condition that it was for one reason and one reason only — and that such reason, whatever it was, would not involve diagnostics or any kind of treatment. Effectively, they agreed only to bill Medicare for nothing.

After a few more long-distance refusals, my brother eventually did see a doctor. Under the care of an experienced Chicago surgeon, he even had a procedure in February, 2015 that most medical professionals would never think to associate with autism, and that one rejected outright. That procedure, a lumbar puncture, ultimately had minimal effects on his behavior (our primary goal), causing me to doubt if there was any hope left at all. It did prove, however, that my hypothesis about the true nature of my brother’s condition — the hypothesis of a non-MD, it is important to note, though one backed by numerous published medical journal articles — was very likely correct. Consequently, it also suggested that a certain and possibly large subset of autism cases may actually be preventable with early treatment.

Still, even though I ultimately figured out how and why the medical establishment had failed my brother, I was too late for him. But maybe not for others.

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It should come as news to no one that autism is controversial. On the one hand, there is a faction of individuals who get upset when autism is referred to as a “disease.” These autism cheerleaders, resigned to some degree of happy denial, stupendously lacking in perspective (which perhaps they cannot help), or both, view it as a unique kind of birthmark, something that simply sets one apart, but still something that comes with advantages and disadvantages. On the other hand, there are autistic people like a friend’s brother. He’s Asian, he’s in his mid-30s, he’s epileptic, and he’s never spoken a sentence in his life. He frequently hits his own head against walls, and the last time I saw him, he could be found carrying a tattered Sesame Street yearly calendar, which he would wave predictably, rendering Big Bird a yellow blur. There are no cheerleaders advocating for mainstream acceptance of his condition.

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. This wild variation in autism’s presentation has given rise to the relatively recent and more-politically-correct-sounding Autism Spectrum Disorder, or ASD. It’s one of a collection of terms that have aspired, and failed, to precisely and comprehensively describe a burgeoning population of affected individuals. There’s also the now-technically-defunct “Asperger Syndrome,” or Asperger’s for short, that in 2013 was removed from the DSM-V, the fifth edition of the Diagnostic and Statistical Manual of Mental Disorders. According to the American Psychiatric Association, which publishes the DSM, “it marked the end of more than a decade’s journey in revising the criteria for the diagnosis and classification of mental disorders.” The only problem is that the existence, and then abrupt departure, of Asperger’s only added to the confusing mess.

There’s also Developmental Disabilities (DD), Learning Disabilities (LD), Pervasive Developmental Disorder (PDD), the Not Otherwise Specified subset thereof (PDD-NOS), and Oppositional Defiant Disorder (ODD). The potential overlaps are endless and yet it’s impossible to map them out, because none of these terms really have any precise meaning. A true spectrum, such as the electromagnetic spectrum, involves the gradual shift of a single variable, such as wavelength; or of wavelength’s inverse variable, frequency. At a wavelength of 620–740 nanometers on the electromagnetic spectrum, you’ll always find visible red light. The autism spectrum has no such variable, and no such metric. It begins in haze and ends in uncertainty, with pseudo-scientific word salad in between. Accordingly, parents of autistic children collect these labels from physicians in the same way that small children collect baseball cards or dolls: they accumulate, at which point, they’re left to sit and collect dust. Occasionally, years later, someone might come back to take a look and see if there’s anything actually of value there.

My family was no exception. We collected all of these labels, but slowly. My brother was roughly ten and had repeated kindergarten before “autism” even crept into our vocabulary. Not that it helped; various test batteries with officious names bestowed by psychologists only established that something was wrong. Of course, my parents had known that since my brother was six months old, when he couldn’t sit up completely straight or hold up his head normally. The chief of pediatric neurology at St. Louis Children’s Hospital told my father that his son would never walk.

He would be the first of many doctors to be completely wrong.

Over the years, we became accustomed to his specific behaviors. We learned a lot about pain, suffering, and endurance. Medically speaking, however, we knew almost nothing. It was this nothingness that gnawed at me endlessly. This collection of seemingly infinite useless labels had me deeply afraid for my brother’s future, my parents’ future, and my future. 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?

Putting my actual job largely on the back burner, I spent November and December after returning from Chicago doing research on the internet and calling doctors on the phone. I’m hardly the first relative of an autistic individual to do so. By the end of the year I was arguably more frustrated than I had been when I began, but it was not for the reason I had been expecting: that my research endeavors had been futile. Rather, it was readily apparent that I had read more journal articles relevant to my brother’s situation than virtually any of the supposed specialists I had been speaking with, and I had come to realize that autism is as much an incurable, impenetrable medical condition as it is the ugly, convoluted product of human bureaucracy — for within the Tower of Babel that presently serves up pseudo-random diagnostic labels for some of the least fortunate among us is actually a second, inner labyrinth of perplexing terminology that has unintentionally been kept hidden from view by multi-national pharmaceutical corporations, hospitals, and physicians too busy to notice.

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On Christmas Eve of 2014, the State of Illinois Department of Financial and Professional Regulation’s Division of Professional Regulation signed a consent order with a doctor named Anjum I. Usman, M.D. One of a growing number of doctors prescribing scam “therapies” with no scientific basis whatsoever, Dr. Usman made herself out to be a pediatric autism specialist, offering treatments such as hyperbaric oxygen chamber therapy, chelation therapy, and nutritional supplements. Although the consent order focused on Dr. Usman’s trespasses involving her failure to disclose financial ties and her failure to obtain patient consent, what is truly remarkable is that her therapies focused on the lungs, the blood stream, the liver, and the digestive system: in other words, everything but the brain.

Remarkably, Dr. Usman is in good company, even among respected doctors in perfectly good standing, unlike her. For over twenty years, none of my brother’s doctors ever once suggested an imaging study of his brain, or any other kind of brain study for that matter, unless one counts behavioral and IQ tests, more properly considered psychological evaluations. Instead, they offered Ritalin, Prozac, Seroquel, Abilify, Risperdal, Geodon, and Zyprexa, among others. None helped, unless you count the respective manufacturers’ bottom lines, but they did turn a suffering rail-thin boy into a suffering, overweight adult. In 2006, I suggested that whether one considers autism a disease or not, that it is a neurological condition is incontrovertible. An MRI scan of my brother’s brain was finally ordered at my request.

The unstated conventional wisdom about autism, even among many MDs, goes something like this: the brain is impenetrably complex, and medicine isn’t quite there yet, so we’ll do what we can, which is nothing — but we’ll try hard to make it look like something. Indeed, there are neural processing units, sub-units and sub-sub-units, some of which are understood at a basic level, some of which basically aren’t, and all of which are crucial to what we think of as “normal” human functioning. Of course, it’s not totally clear what “normal” human functioning actually is, and doctors’ opinions vary widely, let alone those of philosophers’. We aren’t all robot clones; thanks to the wonders of evolution, everyone’s brain is built a little bit differently, and so there does exist some degree of expected variation. As the cheerleaders would argue, maybe autism is “normal” after all!

Of course, there are some doctors, a relative few, who do take autism research seriously and are thankfully insightful enough to be looking at the brain in both a literal and figurative sense. For the limited purpose of figuring out what is happening in the world of this research, what’s important to know about the brain is that one of its key processing units is called the cerebrum — it’s shaped the way you think a brain is shaped — and another one of those units is called the cerebellum, which is shaped a bit like two fists full of play-doh (the cerebellar hemispheres, one on the left, and one on the right) connected in the middle by tissue referred to as the cerebellar vermis. It’s located in the back of the cerebrum, tucked underneath, right above the back of your neck. In a healthy, “normal” cerebellum, the connective tissue of the cerebellar vermis spans basically the entire length, and the cerebellum exhibits symmetry along the axis from front (toward one’s nose) to back (toward one’s neck). In other words, the left side looks just like the right.

One of the wonders of the modern age is that we can actually see what a person’s brain looks like without having to crack open their skull. An MRI scanner is effectively a giant camera connected to a computer, but instead of the camera sensing light, it senses the effect of a huge magnet on spinning protons in the hydrogen atoms of material it scans. Since hydrogen is a key component of water and fat, this works well for biological tissue. The result is a picture book full of black-and-white images, where each picture reveals what a part of one’s body might look like were it sliced completely open with a perfectly straight knife at that very spot. The “slices” are usually set apart every few millimeters, according to the parameters set by the MRI technician, and are imaged separately in all three dimensions, so that by the end of a scan, there are several picture books, or “series,” of images to look at. Modern scanners can output enough data to re-create 3-D models of the tissue being scanned, without ever using any ionizing radiation, and without ever cutting into anything. Although the scanners are not flawless — they are extremely loud, emitting weird video-game type noises due to the way the magnets are required to move around; require temporary confinement in a small space; and cost about $3 million a piece — Magnetic Resonance Imaging is truly a miracle of modern medicine.

In my brother’s case, the MRI that I suggested in 2006 was performed with a relatively weak magnet in an “open MRI” machine, typically designed for claustrophobic patients. The images were accordingly grainy and small, making them harder to read, but it was still apparent to the radiologist reading the scan that there was a phenomenon present called mega cisterna magna, a normal variation. In addition, we were told that the corpus callosum — the connective tissue between the two cerebral hemispheres — looked thin, which was expected for someone with autism. Generally speaking, the scan wasn’t particularly helpful; we already knew that autism was an issue, which was the reason I had suggested the study in the first place. We obtained a copy of the CD-ROM and it went into my brother’s file at home.

After the outburst in Chicago I started reading journal articles. First, I focused on echolalia, one of my brother’s most obvious (and annoying) problems. Say, “It’s time to go home,” and he might reply, “Go home? With a bone? Carrying some stones? To sit on a throne?” and laugh at his own rhymes. This kind of repetition or parroting is well known in the world of Tourette Syndrome, something my brother had never actually been diagnosed with. I was curious about potential genetic links, and ended up reading about a variety of genetic disorders with neurological implications.

I also looked up mega cisterna magna, the “normal variant” that had been noted on the 2006 MRI. After convincing my father to dig the CD-ROM out of my brother’s long-forgotten files and transmitting its contents over the internet to my laptop, I looked at the MRI scans for the first time as well, some eight years after they had been generated. I pored over them for days, comparing what I saw to what Google Images presented as normal brain MRIs. The differences I saw didn’t match what I was reading about.

Oddly enough, mega cisterna magna (sometimes abbreviated MCM) is on a real, if discrete, spectrum semi-within or maybe alongside the invented “spectrum” of autism. It is effectively the mildest diagnosis corresponding to a posterior fossa cyst, that is, a cyst in the back of the brain near the cerebellum. The diagnosis means that while a cyst (typically filled with cerebrospinal fluid, or CSF for short) is noted on the scan, it doesn’t actually impact the anatomical structure of the brain. The skull might be larger than normal to accommodate the cyst, however.

The next step on the spectrum is a rare condition I had never heard of before called Dandy-Walker Variant. As the name implies, it is actually a mild variant of an even worse condition called Dandy-Walker Syndrome, which is hard to miss. Classic Dandy-Walker Syndrome involves a horribly enlarged skull, distorted to alien-like proportions, due to the presence of an enormous cyst that exerts strong outward pressure on the developing head. With Dandy-Walker Variant, however, the signs are less obvious. The skull may be slightly larger than normal, but the cyst is not nearly so big. What sets it apart from mega cisterna magna is that it has an impact on the brain’s shape, and given the location, most likely on the cerebellum.

As a layman, it’s likely that the above descriptions are not perfectly correct — but that nearly doesn’t matter, because it turns out that neuroradiologists, who examine MRI and CT scans of brains all day long, cannot themselves agree on what these terms actually mean. 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.

Yet I was certain that I had the right condition when I finally came across Dandy-Walker Variant. For one thing, the few pictures I could find of other children (mostly male) afflicted with the condition looked startlingly like my brother, in a way no other disease-afflicted individuals resembled. They had boxy heads that jutted out like a trapezoid toward the back. They were described as being irritable, impossible to treat with the typical battery of antipsychotic medications, and having autism-like symptoms. There were noted overlaps with Obsessive-Compulsive Disorder (OCD) and Tourette Syndrome. The fit, given my brother’s behavior, was remarkably good. So why was I just learning about this now, three decades into his life?

The answer to that question only recently came to official light in a 2014 published editorial entitled “Inferior vermian hypoplasia — preconception, misconception” by Ashley J. Robinson, of the Department of Radiology at the Children’s Hospital of British Columbia, in the medical journal Ultrasound in Obstetrics & Gynecology. (DOI: 10.1002/uog.13296). The piece is targeted at doctors who have a background in neurology, but the opening statement is clear enough: “There is considerable confusion in the literature regarding the terminology used when describing abnormalities of the cerebellum and of the vermis in particular.” It also contains a chart that is supposed to help doctors figure out which cases are mega cisterna magna, Dandy-Walker Variant, and full Dandy-Walker Syndrome.

This confusion is real. We showed the MRI scans to friends and family members who were experienced radiologists and neuroradiologists specifically, as well as a neurosurgeon. None identified Dandy-Walker Variant right away. One, with permission, passed the scans along to more specialized colleagues. He reported back as follows:

Two faculty members in the Neuroradiology section of the Dept. of Radiology of the Medical _____ reviewed the MRI study of the brain performed on _____ at _____ on _____. Both faculty members are excellent. One of the faculty members initially said that the findings did not fit in the Dandy-Walker spectrum, but did represent mega cisterna magna. The more senior faculty member agreed with the conclusion of mega cisterna magna, said that this was within the Dandy-Walker spectrum, but at the mildest level. The other faculty member then agreed, stating that it depends on which classification scheme was used. Both faculty members also agreed that there was thinning of the corpus callosum. The consensus of the two was that the study revealed mega cisterna magna, which is the mildest form of the Dandy-Walker variant.

The problem here, aside from the inconsistency, the flip-flopping, and the allusion to conflicting classification schemes — this, just among two doctors — is the agreed-upon conclusion, which is theoretically impossible. Mega cisterna magna does not affect the brain’s shape, while Dandy-Walker Variant, with a capital V, does. The conditions, though on the same spectrum, are mutually exclusive; one is not truly a “form” of the other. In addition, the word “mildest” suggests a mild condition, whereas here, practically speaking, that means an individual unable to support himself with occasionally violent, generally untreatable outbursts. (Perhaps the lowercase V in “variant” suggested some other meaning; but would you want your doctor telling you that you’ll be fine because you have cancer, not Cancer?)

What this means is that autism research is hindered not only by the confusion surrounding what “autism” means, but by additional confusion surrounding the long-known anatomical conditions that it may be most closely linked to in at least a subset of cases. Resolving this esoteric and rarely discussed research gap is crucial to moving autism research and diagnostics forward.

In 2006, the radiologist who read my brother’s brain MRI simply assumed that the 7cm-long cyst in the back of his head — which was never even described to us as a cyst — did not impact his brain, leading to the finding of so-called mega cisterna magna, the supposedly “normal variation” of brain anatomy. But that radiologist assumed wrong. Looking at the cerebellum from every available angle, his brain was and still is affected by the cyst, and substantially so. A follow-up MRI in 2014 at much higher resolution (3T versus 0.3T, eliminating the image graininess) confirmed this finding. Consistent with the newfound realization that my brother’s cerebellum had actually been forced to grow around an essentially invisible cyst — though one that shows up as bright white on T2 MRI — we knew that my brother’s head was large from birth. By the time he was 13 years old, his head circumference was noted as being in the 98th percentile. Yet despite the obvious and quite visible red flag that his head was far too large, no imaging study would occur for another eight years, and not because a doctor suggested it.

Fortunately, doctors are finally studying cerebellar malformations and their links to autism. Consequently, the decades-old view that the cerebellum is simply the brain’s motor cortex, and nothing more, is starting to look rather dated and wrong. “The cerebellum, in particular, is among those most consistently reported structures to be affected in autism; however, our understanding of how abnormalities in the cerebellum may contribute to the core and associated clinical symptoms of autism is only beginning to emerge.” (See DOI 10.1007/978–1–4614–4788–7_44.) “Points of consensus include presence of abnormal cerebellar anatomy, abnormal neurotransmitter systems, oxidative stress, cerebellar motor and cognitive deficits, and neuroinflammation in subjects with autism.” (See DOI 10.1007/s12311–012–0355–9.) Cerebellar morphology has also been implicated in OCD and Tourette Syndrome, which can accompany autism, as my brother so clearly demonstrates. (See DOI 10.1002/ana.21918.)

The fact that posterior fossa cysts are virtually guaranteed to be shaped effectively arbitrarily and abnormally depending on an individual’s particular genes and development also may answer the perplexing question of why so many “severe autism” cases present so differently. A cyst that impinges more on the left hemisphere might have a much different impact than a cyst larger in the center or on the right. More research is definitely needed to investigate this hypothesis, however.

Some individuals with milder symptoms, which are commonly described as Asperger Syndrome, may not even have cysts per se, but may still have abnormal cerebellar morphology — such as my and my brother’s maternal grandmother, who had lifelong social difficulties, but was otherwise a very successful woman, graduating early from college and working throughout her life as a newspaper reporter. She died at age 92, after suffering a number of cerebellar strokes (perhaps coincidentally, or perhaps not). Her MRI scans revealed that her cerebellum had some notable asymmetries, though not as severe as my brother’s.

Of course, complex factors such as gene expression may also play a role, and the cerebellum is definitely not the only part of the brain affected by autism. The corpus callosum, which connects the cerebrum’s two much larger hemispheres, also frequently appears to be thinner than normal in autism cases. It’s not clear if that thinning is a result of cerebellar dysmorphism, or if it’s just correlated. Either way, the research indicates that any condition affecting the cerebellum, e.g. Dandy-Walker Variant, should be examined very closely — especially when at least 14 journal articles about Dandy-Walker Variant also mention autism specifically.

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This series of revelations led me to wonder about the status of my brother’s intracranial pressure. The brain sits in a usually comfortable buffer zone of cerebrospinal fluid, which specialized brain cells lining the ventricles (ependymal cells) generate. Yet if there is too much fluid in the enclosed space of the skull, the pressure can rise, causing systemic damage to the entire brain. I hypothesized that among his many other problems, my brother’s pressure had been too high since birth.

Modern medicine has yielded many discoveries, but one that has yet to arrive is a way to accurately measure intracranial pressure in a non-invasive manner. The least terrible option is a lumbar puncture, which is more or less what it sounds like: sticking a needle into the spine. Since the spine and the brain are connected, and CSF flows throughout both, the pressure is the same throughout, as with any liquid. So in February, 2015, after much deliberation and consternation, as well as many hours of his sitting with my anxious mother and aunt in waiting rooms, my brother had a lumbar puncture to assess his intracranial pressure.

The surgeon informed us that the normal pressure range was between 10–20cm H2O. My brother’s pressure was 25cm. Accordingly, the surgeon brought it down to 10cm by draining the excess CSF.

Aside from the expected week of low-pressure headaches after the procedure (eventually remedied by caffeine and lots of fluids), his behavior hardly changed at all. He was as lonely, frustrated and angry with the world as always. He still could not understand any kind of abstract thought, such as the role of government agencies or any institution. The only change I noticed was that his speech, which had always been slurred, seemed distinctly clearer and faster to me, and still does. Unfortunately, there is no way to quantitatively measure if an improvement had really taken place.

His life goes on as before, deeply challenging as always, but at least now with some clarity as to why he suffers the way he does.

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My brother was born in the mid-1980s, about the time that hospitals began installing first-generation MRI scanners. It’s possible that the hospital where he was born didn’t even have a scanner at the time. But by the mid-1990s, when he was being evaluated by psychologists and psychiatrists on a regular basis, they were fairly common. Today, there is hardly a major hospital that lacks one; most have several running around the clock, as radiological scans are hugely profitable.

There is an entire generation of disabled individuals out there in the same position that he is. When they were born, the diagnostic tools necessary to discover their conditions barely existed. They grew up with a host of vague and largely incorrect autism-ish diagnoses. In many cases, their parents raised them with the constant burden of others’ suspicion that they had done something “wrong” to harm their child. Yet now, the tools exist to actually diagnose the “autism spectrum” with a remarkable degree of precision — I would suggest describing my brother’s case as Cerebellar Dysmorphic Disorder 4/2/1, with the numbers describing the severity of the dysmorphism on the left/vermis/right — at least relative to the status quo, and to dispel those wrongful notions about parental care that are as pervasive and damaging as racism and sexism. In at least some cases, all it takes is a brain MRI, and a neuroradiologist who understands what he or she is actually looking at. Yet MRIs are rarely if ever prescribed to those unlucky individuals with long-standing autism diagnoses. They are trapped in tombs of professional ignorance, and no one, no matter how capable, has the ability to look into their own head and decipher its complexities.

One could argue that if there were such a strong link, doctors would have identified it already. Yet this is not necessarily so. Doctors truly do rely on what they are taught in medical school, and most medical schools spend no more than a few minutes in one lecture on these supposedly rare developmental abnormalities. Nor do most psychologists or even psychiatrists spend a lot of time reading neurology journals.

Still, not every autism diagnosis will turn out to be linked to Dandy-Walker Variant, and not every correct diagnosis will lead to life-altering treatment. But there exist real cases, however, such as this one, of children whose cysts were treated surgically at age 5 or 10 or 12, rather than age 25 or 30, and who live essentially normal lives today. After all, the brain continues developing roughly into one’s mid-20s. And given that enlarged head circumference is already known to be a strong predictor of autism, there is simply no excuse for the medical establishment not to be spreading the word on the important research that has uncovered what seem to be strong links between cerebellar function and autism. For as many theories as there might be — hoaxes aside — as to what causes autism, the one that actually showed up on my brother’s MRI, visible to any doctor who might spend the five minutes required to look, is the one that I’m betting on, for him, and for the next generation.