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A Diagnosis By Any Other Name

May 26, 2012 Reply

The autism community is focused on an issue of great importance right now — the definition of autism in the to-be-published 5th edition of the Diagnostic and Statistical Manual for Mental Disorders (DSM-5). For those who aren’t familiar with the DSM, it is the “Bible” of mental health professionals everywhere for diagnosis of “psychiatric” disorders.

There are proposed changes to the definition of autism in the DSM-V that are currently under review and open to public comment. The changes seem pretty dramatic on their face — Asperger’s Syndrome will be deleted and subsumed under the umbrella of “Austism Spectrum Disorder” (“ASD”) Under this same umbrella will be what is now known as HFA, or high-functioning autism, and Pervasive Developmental Disorder (“PDD”). What will be moved out of the DSM-V entirely are genetic disorders with a known cause that sometimes have autistic features, such as Rett Syndrome, Fragile X, and Tuberous Sclerosis.

There have been thousands of comments received already, and the comment period is open until June. People without much reason to know this information (we call them Neurotypicals or NT’s for short) wonder why this is so important. Of course, if you ask different people you will get different answers, but my best effort at summarizing it is that many people diagnosed with Asperger’s will not meet the new criteria for ASD and will fall into a new diagnostic category, or fall out of having a diagnosis altogether. This problem, referred to as “same child, different diagnosis,” threatens to create confusion on the entitlements to specific therapies and educational services people receive.

Theoretically, it should not matter. People receive specific educational services because the law requires that each person with a disability has an individualized education plan and the specific education that they receive is tied to what works for them and is not anchored solely by a diagnostic label. Those of us who have children with IEPs know, however, that theory is not practice.

One asserted reason for the definitional shift is that many individuals with Asperger’s take issue with the terminology surrounding autism as a “disease” that needs to be “combatted.” That criticism is well-taken. I think I heard it said best by John E. Robison at one of his lectures. He said that he had issues in trying to pass the Combatting Autism Act because he didn’t feel autism was something like cancer, that had no real value to the person who had the cancer. He valued his autism and thought it brought him many opportunities he would not have otherwise had. The solution, he said is to mitigate the the disabilities that autism may cause. In some people, unfortunately, autism causes a lot of disability.

I’d like to advance the radical notion that it is time to remove autism (in its many forms) from the DSM entirely. Although it can have many behavioral manifestations from avoidance of eye-gazing to outright aggression, it is primarily a neurological condition and not a psychiatric one. I am continually amazed that Alzheimer’s disease is also still in the DSM. A psychiatric disease, like depression, may interfere with your desire to get dressed in the morning, but autism may interfere with your ability to do so.

It is not my intention in taking this position to enforce the unfortunate social stigmas surrounding many of the traditional diagnoses in the DSM. The reasons I believe autism has no place in the DSM are: (1) unlike classic psychiatric conditions, there is no place for talk therapy in treating some of the core disabilities of autism; and (2) removal of autism from the DSM will focus us on the underlying cause of the condition and bring greater scientific rigor to the process. What is the basis for removing all of the other “autism-like” conditions from the DSM, like Rett’s, that have a known genetic cause, but not removing autism itself? Aren’t all of the other cases of autism just undiagnosed genetic/environmentally caused, but by a mechanism or mechanisms we don’t understand? Why is autism primarily an educational problem and not a medical problem?

This difference, although seemingly subtle, could cause a shift in thinking for the better. Particularly in the way that autism is perceived by the public. We’re all familiar with the ignorant rants of people like Michael Savage. But there is much more benign and harmful ignorance, if you will, that is just as detrimental to the understanding of autism.

I could provide many examples, as could anyone who has autism or loves someone with autism, but I will recount one that is particularly painful. Some time ago, when my daughter was being diagnosed with autism, I went through a period where I was particularly devastated — I had multiplied the number of special needs children I had by two. At the same time all of this was happening, I was also up for a promotion at work. Great timing, I know. In any event, in the law firm world, promotions are generally handled by committees and a memorandum is written supporting that person’s candidacy. I was particularly busy and didn’t have time to arm myself with information, but that memorandum is generally reviewed by (if not drafted by, with editorial approval of the authors) the candidate himself or herself. My superior lied to me and told me it was not — he was going to write it and I could not see it.

Although that wasn’t really in keeping with what I heard previously, I had other things to attend to that were more pressing, so I kept moving. Later, after I learned I was passed over for the promotion, I was talking with a colleague who told me the truth — so I went straight to our management and asked to see the memorandum. They gave it to me, of course, and could not understand why my superior had not let me see it. I figured it out pretty quickly. In the first several paragraphs that contained my basic biographical information, was the following sentence:

She also makes more sacrifices than others do to be here and do a good job every day. She has two young children, both with the same emotional disorder.

Hmmm. I guess he knew that if he wanted to put that information in there, I would want to remove it. Well, he was right about that. Of course, I felt betrayed by the revelation of such personal information without my permission. I could have looked past that, however, if he had bothered to inform himself that my children do not have an emotional disorder. My daughter does not dress herself not because she does not want to, she does not because she can’t. My son has language processing problems that make expressing complex ideas difficult and frustrating for him. The hubris of a person who believes that they have any idea what my kids — or any children with autism, for that matter — go through every day in this world without spending time with them is fundamentally a narcissist. But to some extent, he held the incorrect perceptions he did because the methodology for diagnosing autism is set out in the same place (and is supposed to be performed by the same professionals) as anorexia or borderline personality disorder.

Again, none of this is intended to suggest that any psychiatric disorder is any less “real” than autism. Psychiatric disorders are very real, and so is cancer, but no one would advocate that you put the criteria for staging tumors in the DSM. We owe the people who are coming into this world in the thousands with autism the opportunity to be something other than the 1950s stereotype of the cold, anti-social, distant child.

This candid snapshot was taken over the winter holiday by my husband of my children at a restaurant while we waited for our dinner to arrive. Do these people look like they want to be in this world alone to you?

Better

May 14, 2012 Reply

When I was doing my EMS training, one of the career EMT/Firefighters talked to me about a call we had just run one night. It was an older woman with abdominal pain. We get those kind of calls all the time. He asked me “so, what did you think of that call?” I told him that she seemed kind of routine to me and there could have been a variety of different causes for her abdominal pain. “Right,” he replied, “and quickly, you will develop a sense for when those seemingly routine calls are not routine by just looking at the patient and seeing that something just doesn’t look right.”

That kind of judgment that comes with experience obviously can’t be taught, but perhaps the “nose for trouble” that comes with practice alone is not enough to be good at what you do. Atul Gawande, in his book Better, A Surgeon’s Notes on Performance , talks about the importance of vigilance, borne out of a desire for betterment. In the introduction of his book, he tells a story about an old woman who “didn’t feel good,” much like the EMS patient I had. He recounts that this woman came into the ER at the hospital when he was in his residency, and he thought she was probably fighting an infection, and that’s about all the thought he gave to her. The senior resident, however, was not so sanguine. He thought she “didn’t look right,” and so he went back to check on her twice between rounds. As a result, he caught the fact that she did, in fact, have pneumonia and the infection had progressed to sepsis (an infection in the bloodstream), which can rapidly be fatal. As a direct result of his diligence, he spotted her sepsis fast enough to avoid having to put her on a ventilator and she was released in a few days.

Gawande attributes the senior resident’s instincts and more importantly, his vigilance, as critical in changing this woman’s outcome. “What does it take to be good at something in which failure is so easy, so effortless,” he wonders. He concludes that one of the essential ingredients to be good is diligence — that this makes a doctor better. Competence is not enough.

His lessons are equally applicable to almost any discipline. The legal profession would be well-served by this sort of self-reflection. One place where I think it matters greatly is in parenting. And no where is the necessary diligence as challenging than in parenting the child who can not tell you what is wrong or what is bothering him or her. Parents of infants and those special children with whom the world can never communicate must read subtle signs and be ever vigilant.

So, on this Mother’s Day, my hats off to those of you who pursue whatever it is you do with a sense of diligence, whether it is being a great teacher, mother, caregiver to an ill family member, a nurse, a doctor, or EMT. You truly are better for it.

Facing Life

May 13, 2012 1 comment

Clara Beatty, Girl With Treacher Collins Syndrome And Deformed Face, Learns To Navigate World.

This week saw another news story about a child born with a facial difference who almost did not come into the world. Clara Beatty, age 9, has Treacher Collins Syndrome (“TCS”), a craniofacial disorder with a known genetic cause. It frequently causes hearing problems (ranging from hearing loss to total deafness) and breathing difficulties caused by a narrow airway. It does not typically have neurological or cognitive effects, and there are very successful people living productive lives with TCS.

Clara was almost not Clara because her parents (they were living in Belgium at the time) were told by doctors that most people in their situation abort. When is it ever ethical for doctors to provide “ultimate advice” like this, as opposed to simply providing the parents with information about the condition (which is plentiful in the Internet age)?

You may be surprised to find out that ethical or not, it happens regularly, all over the world. This is a direct function of the inherent paternalism in our system of medicine — the patient is incapable of grasping the full import of the diagnosis, so choices must be made for the patient.

I often tell people that the one upside to not knowing a thing about our son’s condition before his birth was that I didn’t have to listen to people tell me how he would have a life not worth living. Back in the early 2000’s, my husband and I went to a craniofacial conference that included medical personnel and families. There was a series of “providers only” sessions and one of them — get this, was entitled, “The Benefits and Burdens of Pre-Natal Diagnosis.”

An army of doctors and nurses were at a conference with families who knew from first-hand experience what those benefits and burdens were, and rather than hear it from the families, they chose to discuss among the ignorant. This example epitomizes the hubris that is all-too-common in the profession — patients and families have nothing to teach.

The article contains another, implicit issue. The focus of the discussion in the story is on how Clara appears different. The underlying message is that the doctors told Clara’s parents to abort her because she would never look like everyone else. Clara eagerly anticipates her facial growth so she can have some surgery and look more like everyone else, so people will stop asking questions and staring.

What Clara does not know yet is that the staring will never stop. No surgery or series of them will erase the fact that she was born with TCS. Instead of celebrating her triumph, the focus is on her “deformities.” How important is it, really, to look like everyone else? In her memoir, Autobiography of a Face, Lucy Grealy (who later committed suicide) writes:

“I spent five years of my life being treated for cancer, but since then I’ve spent fifteen years being treated for nothing other than looking different from everyone else. It was the pain from that, from feeling ugly, that I always viewed as the great tragedy in my life. The fact that I had cancer seemed minor in comparison.”

Every year, we take our son to a top-rated craniofacial clinic, and every year, some doctor rolls in and makes a suggestion about some possible surgery or procedure that will “normalize his appearance” or will make him “look better.” My response is always the same: this is our son’s face, not ours, and we don’t make the decisions about it. If he asks for surgery, we can discuss it, and he can go ahead with a thought out decision about it, but we and he must do so with a sense of realism — he will always look different from other people, and the fact that is a problem is not his problem to be surgically corrected, but the rest of the world’s problem, which unfortunately, can not be surgically corrected.