Being Undiagnosable (4)

Aug 052010

Part 4: Testing negative

[In part three of this series post I explored my evolving symptoms through the challenges of differential diagnosis. This post describes the turning point at which anxiety turned to fear, as I begin to consider diagnostic possibilities that seem truly unbearable.]

Iatrogenesis

In my mind I kept going back to cancer. As a survivor of that disease, I’ve always held a certain fear that it would recur. I asked my primary doctor for a referral to an oncologist, which he gave me. While we were waiting for that appointment, I had a regular follow-up appointment with my endocrinologist. I described the muscle spasms, the weakness, the weight loss. I told him about our appointment with the oncologist.

There’s no harm in doing that, he said. But it sounds to me like you ought to see a neurologist.

A neurologist?

Really?

That came as a genuine surprise to me. I thought of neurologists as people who do brain surgery. Which is to say I hadn’t given them much thought at all. I had certainly never taken the trouble to think through the fact that disorders of the nerves that run through our bodies are the specialty of neurologists. It had certainly never occurred to me that nerves are the mechanism which trigger muscle movement. When I experienced a muscle spasm, that was a neuromuscular event.

The thought of needing a neurologist alarmed me more than anything else had thus far. While I didn’t like to be going to an oncologist, at least that was familiar territory. Neurology was something else altogether, a land of unfamiliar and truly frightening possibilities.

I began reading about the possible causes of muscle twitches and spasms. They ranged from benign to awful. I learned the word fasciculation. I learned that muscle fasciculations were an early sign of ALS. I didn’t know much about ALS. Not yet. But it sounded awful.

I certainly didn’t think I had that.

The oncologist considered my history, did a brief physical exam and said that although he had no explanation for my weight loss, it seemed unlikely to him that the cause of my problems was a recurrence of the cancer. What about Multiple Myeloma, I asked? I’d been reading about this form of cancer, how it could strike people who had been previously treated for and recovered from cancer.

I started tracking down the research on the long-term sequelae of testicular cancer and learned the rate of recurrence was significant, years and even decades after the original treatment. And of course it was the treatment itself which could be the cause…radiation kills cancer cells but it also causes cancer.

There’s a word for that: iatrogenic. It’s a complex and, to me, an oddly beautiful concept. It speaks to the hard truth that the art of healing creates opportunities for the development of new illness.

It can happen in many ways. Gathering patients together in hospitals and clinics concentrates communicable diseases in one place and gives them the chance to spread. The invasive nature of many medical procedures also creates opportunities for infections. And, as with cancer treatment, there are times when the only thing that can heal us is something that simultaneously does us harm.

It’s a term that mental health professionals rarely use…although it probably should be a part of our vocabulary. The reason we don’t use it is in large part due to the nature of the diagnostic system for mental disorders. Unlike medical diagnosis, the DSM is agnostic as to the causes of mental disorders. It seeks only to identify them, not (with a few small exceptions) to identify what led to them.

Although this makes for a clearer diagnostic manual, it belies a deeper human truth. Because whether a diagnosis is medical or psychological, one of the first things anyone asks upon receiving it is: why?

In my case, I was looking at causes precisely because I didn’t have a diagnosis. I was starting from the most logical cause I could locate in my history. Which was cancer.

It was a decent theory, which was only strengthened when I read an account of another testicular cancer survivor who later developed Multiple Myeloma. His first symptom? Muscle weakness.

I asked the oncologist if I could have it.

Not likely, he said. If so it would have shown up on your blood tests. Nevertheless, he said, with your history and your symptoms it’s worth doing some scans.

So I had chest and abdominal CAT scans, which came back showing no major abnormalities. Although, he said, there were a few small spots here and there. A lot of people have those, he added. Usually they’re benign.

Still, he said, it’s probably worth following-up with another scan in a year, just to be sure.

Imagining the worst

So was cancer ruled-out?

It wasn’t clear. Cancer wasn’t the likely cause of my problems, but there was certainly room to worry. If I chose to.

To put this another way: is a diagnosis – or a diagnostic rule-out – valid if the patient doesn’t believe it?

Does diagnostic certainty require consensus?

In many cases, particularly in cases of a clear affirmative diagnosis, the answer is obviously no. A malignant tumor in the brain means brain cancer, even if the patient happens to be in denial about it.

But it’s a different situation when it comes to rule-outs. If you test negative for cancer (or for MS, or Lyme Disease or Celiac), but you’re still experiencing the symptoms of that condition…if you don’t fully trust the results of the tests…if you still don’t have an adequate explanation for why you feel the way you do…then in certain ways nothing is ever ruled out.

After all, you can’t disprove a negative.

With each new test suggesting that I didn’t have this or that disease, the thought began growing in the back of my mind. What if I just happen to be hyper-sensitive to the early signs of whatever condition this is? What if it hasn’t grown strong enough yet to show up on the tests? Do I just have to wait until things get worse before I can get diagnosed and treated? Isn’t the value of early detection supposed to drive effective treatment?

These questions were only going to grow more pointed and more maddening.

The first available appointment with a neurologist was months out in the future. While waiting, I tried to diagnose myself using the information I could obtain over the Internet. I learned a lot, in an unstructured sort of way which left me wide open to bouts of pure panic. About ALS in particular. Because any search of my primary symptoms – muscle weakness, fasciculations, weight loss – always led me straight to ALS. The more I let myself recognize that this was possible, the more aggravating it became that I couldn’t get a timely appointment with a specialist who was qualified to diagnose it.

“We’re not a critical care facility,” the receptionist at the neurologist’s office icily informed me when I called to push for an earlier opening.

It was disturbing to realize what a powerful role the simple task of scheduling an appointment could play in the diagnostic process. “Early detection” may be the stated goal of healthcare professionals, but because detection can’t happen without examination, it hinges in a concrete way on the mechanics of scheduling.

We learned that a new neurologist was moving to our town and my wife managed to get me an appointment with her on her first morning of work here. Arriving in her office felt like an epic accomplishment. Here was a person, I let myself hope, who could finally tell me what was wrong with me.

She listened to my story and did a full neurological exam. She couldn’t see anything abnormal on the exam, but she ordered a new batch of blood tests and MRIs of my brain and spine. She scheduled me for an EMG and a nerve conduction test the next week.

At first I didn’t fully comprehend what was at stake with this particular test, in which needles would be inserted into my muscles and the electrical activity of those muscles is measured. In ALS the motor neurons (which direct voluntary movement of muscles) degenerate and die. If you’ve got ALS, you’ll have abnormal results on an EMG.

This test, I gradually let myself realize, might tell me that I was about to begin a rapid descent into paralysis and death.

In addition to the obvious emotional stress, that EMG was one of the most physically painful procedures I’ve had to endure. The sensation of that thick needle penetrating muscles was excruciating. But once it was over, the neurologist looked at us calmly and said she didn’t see any sign of ALS. She said that the MRIs hadn’t shown any sign of MS. She said that I didn’t have Parkinson’s. She said that my blood tests came back negative for Celiac, Lyme, AIDS and a bunch of other things that might potentially cause my symptoms.

I’m not sure what to tell you, she said. But those are things that in my opinion you definitely don’t have.

It should have been a relief. I tried hard to make myself feel that. I don’t have ALS, I repeated to myself. I don’t have ALS. I tried to make it sound true. But because her answer was entirely in the realm of the negative – things I didn’t have – and because the same symptoms that I’d been experiencing were steadily growing worse, I found that I couldn’t convert this absence of diagnosis into feeling of comfort.

I discovered that as long as I was still experiencing the same symptoms, I didn’t feel any relief. There was no way that someone telling me I was fine was going to feel like a resolution. The only relief that I could imagine would have been a clear explanation of my symptoms, a definitive diagnosis.

But I remained undiagnosable.

The neurologist seemed confident and competent. But when you’re as unsettled as I was, you can figure out ways to doubt anyone.

Just how certain was she about the test results?

We asked her.

This is the way it looks to me, she said. But if you want to feel more confidence about this, you should definitely get a second opinion. I would completely understand if you chose to do that.

You could even go to the Mayo Clinic, she said, if that you would set your minds to rest.

[Part five of this series will range from the most traditional Western medical approaches to diagnosis and treatment, exemplified by the Mayo Clinic, with some of extremely non-Western approaches which I also embraced.]

Being Undiagnosable (2)

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Jul 192010

Part Two: Insidious Onset

[Part one of this series described the early history of my physical symptoms while also identifying a series of diagnostic dilemmas.]

Receiving a diagnosis…being a diagnosis

Although I don’t usually think of myself in these terms, I am in fact a diagnostician by training. As a psychotherapist, it’s an integral part of my work which serves two basic functions. The first is mundane and uncomfortable: in order to be reimbursed for my services by insurers I need to provide those insurers with a reimbursable diagnosis for my patient. The second is more complex and more poignant: I am beginning the process of putting words to human suffering. And in psychotherapy, putting words to suffering is the way in which healing happens.

A more mechanistic way of saying this is that diagnosis guides treatment. More than a label, a diagnosis gives me a framework from which I can attempt to help.

Central though the task is however, diagnosis and mental health have never meshed well. Witness the interminable wars over the definition of categories and criteria for each new version of the American Psychiatric Association’s Diagnostic and Statistical Manual (the “bible” of mental health diagnosis). You don’t usually see vicious debates breaking out between doctors (and pundits and advocacy groups and ordinary people) over the definition of Arthritis, say, or Measles. Unlike mental health diagnoses, such conditions are characterized by clear-cut and physically observable symptoms, which can be confirmed by empirical lab tests.

Although, as will become clear as my own story plays out, when medicine bumps up against the outer edges of objectively definable symptoms (as in the case of conditions like Chronic Fatigue Syndrome, say, or Fibromyalgia), the same sorts of debates begin to flare up.

In mental health the discomfort around diagnosis speaks to an underlying dilemma in how we think of ourselves as human beings. As a mental health worker I am trained to value the uniqueness of each human experience. As a result I recognize how easily a diagnostic label can conflate with and distort a person’s identity. Because we don’t say “I have Depression,” but rather “I am depressed.” We don’t say “she suffers from Borderline Personality Disorder,” but rather “she’s borderline.” That tension exists in patients as well as clinicians. Part of us wants our experience to be clearly definable; another part of us insists that mystery lies at the core of our unique human experience.

Completely correct, absolutely wrong

From time to time I teach diagnosis to graduate counseling students, and it is always an invigorating experience. Counseling students commonly approach the DSM with a high degree of wariness, even hostility. They see it as a medical model which imposes a pathology-based perspective on human experience, contrary to the strength-based compassion from they wish to operate.

I tell them that are completely correct. And I also insist that they are absolutely wrong.

I suggest that they consider a simple, specific scenario.

Say you’re a counselor and someone comes to you saying that they are feeling overwhelmed by sadness over the break-up of a romantic relationship. As a counselor, how do you help them while refraining from imposing a diagnosis on them?

The answer to that question quickly reveals the many subtle levels of diagnosis that take place within all of our human interactions.

The hardcore counselor-type will maintain, following the technique of Carl Rogers, that simply listening and compassionately reflecting back a person’s experience is all that is necessary.

But what is it, exactly, that you are reflecting?

“You’re feeling really sad because your girlfriend left you.”

You may not be assigning a diagnosis in making that statement, but you are agreeing with (and thus reinforcing) your client’s self-diagnosis.

And where are you going to go from there? How are you going to help?

I maintain that you can’t move forward in any way without holding some sort of diagnostic theory in mind. I don’t think it’s possible for a counselor to set aside your own assessment of the meaning and causes of their client’s condition. Further, I believe that it’s potentially dangerous for us to believe that we can do that.

To be clear, this is a different level of diagnosis than the DSM code you put down on the form that you submit to an insurer. Diagnosing with the DSM is a process rife with problems. But that doesn’t mean that diagnosis itself is the problem. Because a diagnostic process of some sort is essential to our ability to make sense of other people (and ourselves). We understand others by attributing meaning to their words and actions. But of course the meaning that we assign may or may not correspond to the meaning others give it. Many who are drawn to mental health professions are uneasy with the idea of claiming an authority which allows them to interpret the behavior and the experience of others. This uneasiness is a good thing. Because there’s a power in that authority that can easily be mishandled or abused. The challenge of diagnosis lies in being able to recognize that while assigning a diagnosis to a human experience helps us to make sense of that experience, it simultaneously increases the risk of our misunderstanding that experience.

Refugee

There is a certain category of medical patient whose fundamental goal in interacting with medical professionals is solely to obtain a diagnosis. For that person, the meaning of a diagnosis transcends the meaning it might have in more routine medical interactions.

Say you’ve got a bad sore throat and your doctor does a culture and identifies it as strep. That is not an event which fundamentally alters your definition of yourself. But if instead you suffer from vague and shifting symptoms, if those symptoms come to shape your day-to-day experience, if they persist for months and years, and if no one in the medical profession can identify an empirical basis for those symptoms…

Well, that’s the situation I was about to find myself in. I was joining the ranks of the medical refugees. And from the perspective of a medical refugee a diagnosis – any diagnosis – becomes the holy grail. Because without a diagnosis, no one can treat you. In this situation even a really nasty diagnosis – MS, ALS, cancer – becomes preferable to living your life knowing something is very wrong without being able to identify what it is. Just as your identity and your experience has become shaped by your symptoms, the search for a coherent diagnosis becomes a profound search for meaning and self-definition. It’s a search for truth.

As I described in my previous post, the diagnoses that I had been given (or had assigned to myself) to make sense of the changes in my sexual functioning included normal aging, endocrine imbalance, and Post-Traumatic Stress Disorder. The first was untreatable, the latter two had been treated without a resolution of the underlying symptoms, suggesting either that the treatment was inadequate or that the diagnosis was inaccurate.

And things were about to get much more complicated.

Markers

Although there are certain clear markers, the changes in my functioning didn’t happen abruptly. Rather, it was what the medical field refers to as an “insidious onset.”

Through the summer of 2008 I was continuing to see the endocrinologist, who was looking carefully at my blood levels as he tried to fine-tune the dosage of my testosterone and thyroid medication. He witnessed one of those markers – an inexplicable abdominal rash that developed that summer. It was blistery and itchy and it persisted for six weeks or so. It was odd, nothing like anything I’d ever had before, and I noticed it without knowing what to make of it. He looked at it and did more or less the same thing that I did. He said, “hmmm.” Then he went about his business.

Around the same time I developed what I first assumed was an ordinary running injury. Every morning when I went out on my run I began getting sharp shooting pains in my left leg after about a half mile in. I assumed it was a pulled muscle of the sort I’d had in the past. My first response was simply to try to power through it. When it didn’t go away on its own, I laid off of running for awhile – that had always worked before. But it didn’t help this time. And worse, I began experiencing the same pain in other situations (driving was especially bad) and I started experiencing a series of other sharp pains in my lower back and leg.

Finally I went to my doctor, who said it was Sciatica. A nice, clean diagnosis. He prescribed an anti-inflammatory and some physical therapy. The treatment helped a little, but it didn’t eliminate the pain, which I continue to experience intermittently. It was an interesting diagnosis because it seemed both accurate and insufficient. I continue to wonder what, if any role this particular symptom plays in the larger diagnostic picture.

In order to avoid activating the sciatic pain I switched to biking for exercise. But I began to experience a heavy exhaustion when I biked at my usual pace up even very moderate hills. As a (former) distance runner, I am very attuned to the responses of my body to different levels of exertion, and so I could clearly recognize this as a change in how my body was performing. This was not just the ordinary aerobic effects of a good work out. This was a feeling of internal collapse.

It was odd and it was very distinct. It’s usually the place I start when doctors take a history, because it’s the clearest early symptom related to the fatigue and weakness that I suffer from presently. It is a key marker in my subjective experience as well, one of the few things that has been consistent over these past few years: when I exert myself beyond a certain level, I experience a physical collapse which is marked by a feeling of weakness, shakiness and light-headedness. One of my key adaptations over the past few years has been modifying my exercise routine in order not to trigger this response. I no longer run. I bike regularly, but not intensely and not on hills the way I have always enjoyed. Instead, I have joined a gym where I can work out on exercise machines in a regulated way which usually keeps me from triggering this response to exertion.

I hate the gym. But it’s the only way that I can continue to get the exercise I need.

This is where diagnosis begins to cross over into the realm of self-definition. Because whatever was wrong with me was altering my ability to do the things that make me who I am. I went back to my doctor and tried to explain what I was experiencing. I told him that there seemed to be something larger wrong with me, that these changes were broader than the limited diagnosis he’d given me. He shrugged and said, once again, “welcome to middle age.”

A Million Bucks

It was clearly time to find a new doctor. I talked to a colleague who recommended an Internist she knew. She said: “this guy’s like a dog with a bone when he gets a diagnostic puzzle. He’ll keep working on it until he figures out an answer” That sounded good to me. I met with him and he took a history, gave me a physical. He ran some basic blood tests, all of which came out normal.

“I can run more tests,” he said, “but I’m not sure what they’ll show.”

I asked for a referral to an oncologist. I wanted to rule out any recurrence of the cancer.

Then I had my first real “episode.”

This was in November of 2008. An early snow had fallen – it was wet and heavy. I went out at mid-day to shovel the sidewalk. This is an activity that I ordinarily enjoy. I like the physical work-out, the exertion, and the visible result of my efforts. But this time something started happening to me. I started feeling light-headed. And weak. It was like the experience I’d had while biking, but much more intense. It was a difficult sensation to describe, but I can say that I didn’t feel well connected to my own body and even though I seemed capable of continuing to exert the effort necessary to shovel the snow it didn’t feel like a good idea to keep doing it. And all of the physical sensations seemed oddly focused on the upper half of my body.

It was really strange. It was not something that had ever happened to me before.

My wife looked at me when I came inside and she grew instantly alarmed. She said I looked like a ghost. Which was what I felt like. I recovered after an hour or so and I felt depleted but more or less normal afterwards. My wife got me an appointment with the new doctor for the next day.

“I have an idea about this,” he said. “I don’t think that this is going to be a House episode.”

He gave me an EKG and he thought he saw an abnormality in it. It seemed to be a cardiac issue. I observed his diagnostic certainty. I tried to accept it. Coming from a mental health perspective, I could not think about any diagnosis without also considering the meanings attached to it. What would it mean to me to have heart problems? On one hand, the prospect of a heart attack was frightening. On the other hand, it seemed like one of the most well-understood and treatable of conditions. That was comforting.

But it also just didn’t quite fit. I was a marathon runner. Aside from high cholesterol, which was being adequately treated with statins, I had never had anything that remotely like a heart problem.

The next day I found myself on the treadmill at the cardiologist’s office.

The guy was old-school. Paternalistic and condescending.

“No one ever beats the treadmill,” he said.

But I was a trail runner, accustomed to running straight up the side of mountains. The test required that I get my heart rate up to a certain level at which I would be adequately “stressed.” It took a long time for me to get there. And when I finally did, when I was unplugged from the machine, the doctor came in and told me what I already suspected: my heart was in better condition than 99% of the ordinary population. The abnormality that my internist had seen was actually an artifact of how unusually strong my heart was.

I have struggled throughout this experience with this particular paradox: I look really healthy. That’s one reason why nearly every doctor I have seen throughout this odyssey has suggested that the real diagnosis must be depression, or anxiety, or both. Even though I am more familiar than they are with these diagnoses and their treatments, even though I have described to them the years of therapy I have been through and have outlined the lack of correlation between my mood and my physical symptoms.

“Have you considered going back to a therapist?” one doctor asked me. “Because on paper you look like a million bucks.”

As I began inexplicably losing weight, this disparity between my outward appearance and my inward experience was about to grow even greater.

[In Part Three of this series, I’ll describe my tour of medical specialists, which eventually led us to the Mayo Clinic. And I will further explore the cultural meaning of be identified with a diagnosis.]