This ME/CFS patient case history is one of 10 that Dr. David Bell included in his book Faces of CFS – Case Histories of Chronic Fatigue Syndrome, published in August, 2000 (downloadable free at www.davidsbell.com). Each case illustrates a different aspect of the illness that he has studied in patients affected by the ‘Lyndonville Outbreak’ over the years. And the detective work continues, as Dr. Bell remains one of the most active clinical minds in ME/CFS research today (he will report up-to-the-minute findings on XMRV & other investigations in Boston on April 16, for example).
THE FRUITCAKE FACTOR
“Neurologic symptoms appear to me to be the most direct window into the heart of this illness; they both define and explain CFS.” – David S Bell
When I was a child, I lay in a field one sunny day, puzzling over something that was brand new. Staring at the sky, I noticed what seemed to be an object of unknown identity hovering in my left field of vision. When I turned my head in its direction, however, it seemed to slide away and disappear. I realized I could also see a similar strange shape in my right field of vision. If I directed my gaze ever so slightly away, it might remain still for a moment, delicately balanced, but it slid away, too, when I turned my head to focus on it. They were shy, transparent objects, and they were not really in the sky. I studied the problem for an hour or so, then I fell asleep.
During my medical training, I learned that these curious objects are called “floaters” by neurologists and eye specialists. They are white cells that have collected in the anterior chamber of the eye. Almost everyone will notice them from time to time.
I have decided that floaters are very like CFS since, whenever you try to look directly at them, they skitter off to the periphery and then disappear. If you pretend not to really look at them, they may hold still just long enough for you to get some sense of their shape and size. Certainly, the illness I study in Lyndonville is like that. The harder you look at a specific aspect of CFS, the more whole disease slides off to one periphery or another, hiding itself just beyond your line of sight.
Let me give you an example. Nearly 80% of people suffering from CFS will have joint pain at some point in their disease, and many will have it as a chronic symptom. Yet, this pain is by no means a true arthritis.
When these painful joints are subjected to X-rays, the image looks normal; there is no joint damage or deterioration. I am able to rule out rheumatoid arthritis, a more severe disease than the common osteoarthritis, in CFS patients, as well, because the blood tests used to diagnose rheumatoid arthritis are negative.
I have noticed that the typical rheumatologist seeing a CFS patient may end up – as I did once as a child studying curious objects in the sky – falling asleep before the patient even comes to the end of his symptom list. Whatever the root cause of CFS, joint pain is some distance away from it.
Still, there are a few symptoms a doctor notices in CFS sufferers that I believe are crucial to understanding the disease.
Amanda Lewis was nearly 40 when I first saw her, and she had been ill with CFS for years. She had all the typical symptoms: unending fatigue, joint and muscle aches, headaches, trouble concentrating.
As her years of illness wore on, she had learned ways to cope with these unpleasant sensations, but there were a whole category of symptoms, which came under the heading of “neurologic,” from which she rarely found relief or escape, nor could she hide them from others.
• Lights hurt her eyes, and certain high pitched noises caused her to experience pain just behind her ears.
• Sometimes her fingers hurt when she touched objects.
• Amanda also described a burning sensation in her arms, as if they were in flames, and occasional episodes of either numbness, or tingling, in her arms.
• On occasion, she would also experience tremors in her upper arms, which would shake and begin to rise involuntarily. If Amanda had lost consciousness at such times, one could say she was suffering a seizure, but these were not true seizures because she was fully conscious throughout the ordeal.
• Amanda discovered, too, that on occasion her arm and hand muscles were so weak objects like empty coffee cups would just slip out of her hand.
Most distressing to her, Amanda’s intellectual capabilities seemed to have been shattered.
Sometimes she got lost – in her house. When she cooked, she sat by the oven until her food was ready in order to make sure she remembered to turn off the burners. She was utterly helpless when it came to managing two simple tasks simultaneously; she simply lacked the ability to concentrate.
She felt her brain’s gears had gone rusty.
I was hardly the first doctor Amanda had consulted. Among those few doctors who took her complaints seriously, a few had suggested her intellectual difficulties were the natural result of aging, a worrisome suggestion, as she was young.
In addition, although all the symptoms she described to these doctors could be huddled together under the umbrella of neurologic disease, they had been unable to find evidence of muscle wasting or atrophy, nor had they been able to measure any abnormal degree of weakness, using standard neurological tests. (They did detect a slight tremor in her arms and hands, however.)
In addition, Amanda failed what’s known in medicine as the Romberg test, named after its inventor. When she stood in a relaxed stance with her arms outstretched, she wobbled and usually fell backward and to the right.
When Amanda came to see me and described these problems, I decided to test her reflexes.
Everyone who has ever had a physical exam remembers the doctor tapping a rubber hammer on their knee, and watching their lower leg jerk forward. That’s a normal reflex.
When doctors test reflexes, they are checking a “reflex arc,” a nerve circuit or pathway that travels from a tendon in the leg to the spinal cord and back to the leg muscles. Diseases that interfere with the nerves of the leg will suppress that reflex to kick your doctor in the groin.
I was startled when I tapped Amanda’s kneecap tendon. She didn’t kick me – her whole body shook.- In fact, she almost jumped off the table. I then tested her vibratory sense with a tuning fork, the ability of her leg nerves to detect vibration. Her reaction was more muted, but similar to the first response by being exaggerated. It seemed to me as if Amanda was very much like a set mousetrap that was ready to trip given the tiniest nudge. I think this was the first time I was worried about hurting someone by tapping a tendon with a rubber hammer.
• I sent Amanda to a specialist, a neurologist. His diagnosis: Huntington’s chorea, a fatal disease of the central nervous system. Amanda was hardly cheered by the news, and I was dubious because her tremor was unlike the jerking motions of "chorea."
• I arranged for another neurologist to see her in an effort to get a second opinion. The second neurologist suggested that Amanda might have multiple sclerosis, but seemed unwilling to test his own hypothesis by conducting the standard diagnostic tests for the disease.
• A third neurologist insisted that all of Amanda’s symptoms could be ascribed to depression. He prescribed antidepressants.
When I asked him, in a telephone conversation afterward, about Amanda’s remarkable response to tendon tapping, he assured me that her response was phony. Nobody jumps off the table when you tap their reflexes, he noted with a degree of confidence I found chilling.
I realized he was telegraphing to me some basic information he believed I needed to know: Amanda was a fruitcake. Amanda’s exaggerated reflex response became “the fruitcake factor.”
Neurologic symptoms appear to me to be the most direct window into the heart of this illness; they both define and explain CFS.
The reluctance of neurologists to be interested in CFS mystifies me. Perhaps it is too difficult; perhaps it is because they prefer the classic symptoms of seizure, isolated headache, and the shaking of Parkinson's disease.
CFS is a unique blend of numerous neurologic symptoms, none of which are well understood today.
• The fatigue (not tiredness) must be generated somewhere in the primitive midbrain;
• The sleep center is nearby and clearly does not work correctly.
• Cognitive problems, pain, and headache are clearly neurologic.
• Even the immune system problems of CFS may be neurologic as we know that brain injured patients display immune system abnormalities.
But right now it is too complicated. Physicians can be very interested and scientific when it regards any other organ of the body, but the thing that sits atop the shoulders remains the "black box" of medicine and is largely ignored.
I have no problem with not understanding the exact mechanism of the symptoms of CFS. I was never good in the two week neuroanatomy class in medical school. I do have a problem with the lack of respect given patients with poorly understood neurologic disease.
Science has created a false aura of mastery, and if there is an area where mastery does not apply, it is an area to be disregarded, ignored, and even ridiculed. And this injury by the medical profession and society hurt almost as much as the symptoms of CFS.
I routinely see patients with CFS who are disappointed when an MRI scan does not find a nice big brain tumor. At least that is real. Ultimately, the neurologic symptoms of CFS will gain a foothold in the thinking of neurologists and garner respect. The brain is the Rodney Dangerfield of medicine.
It was a colleague who first described to me a possible mechanism for the fruitcake factor in CFS. Paradoxically, this symptom is prominent in only a small minority CFS sufferers, always the most severely ill; it may even be the medical marker for the degree of severity.
When I look for it, however, I can see traces of it, or at least very subtle myoclonus, in up to half of all patients.
And here I will reveal my hunch: The fruitcake factor not only represents a fundamental process of the disease, it probably exists in every patient to some degree, however minor, and expresses itself as pain.
Amanda’s violent reaction to tendon tapping was a manifestation of what doctors call “myoclonus.” Neurologists define myoclonus as a sudden and generalized jerking contraction of the muscles. You may have noticed your sleeping partner in the early stages of sleep either jump or jerk, sometimes kicking you quite fiercely without once offering an admission of guilt or regret.
So called “sleep myoclonus” is sometimes violent enough to wake you just as you’re falling asleep. Sleep myoclonus is perfectly normal, but – with few exceptions – it is the only kind of myoclonus that is normal.
Sadly, although myoclonus is a markedly abnormal finding, it is also the ultimate humiliation for the patient with CFS. Although this finding may be one of the most important signs of neurologic disease during any clinical exam, doctors most typically dismiss it as “hysterical” when they are examining CFS sufferers. What they mean by this is that the patient is going for dramatic effect.
In my view, this is like calling an epileptic patient a drama queen when he has a seizure.
Epilepsy is not due to “evil humors,” as seventeenth century healers once decreed, and the fruitcake factor – myoclonus – is not hypochondria.
Of course, muscle tension can cause the tendon reflex to be increased, and anxiety certainly increases muscle tension. But an abnormal reflex due to mere muscle tension would never cause someone to jump off the examining table.
This response is due to the fact that the reflex travels up the spinal cord, not just the isolated arc back down the leg.
Anxiety could not possibly explain Amanda’s reaction. Some experts on the subject consider myoclonus to be a form of epilepsy, because it originates in the brain. But whether myoclonus is a seizure or not, in a sane world, the neurologists Amanda visited should have recognized her abnormal response to their sensory stimulation for what it was: a highly abnormal neurologic sign.
Amanda had seen three neurologists over a one month period. She has been told:
• That she will either die soon, maybe in a while,
• And that she was a fruitcake and will probably never die.
She is in a bit of a dilemma; and I, as her doctor, am also in a bit of a spot. As primary care physicians, we suggest specialty examinations to offer patients the "real doctors", who will solve their problem, perhaps verifying an opinion to instill confidence. However, as a first line clinician, one who sees the patients who walk off the street, I am now in a bad spot. I admit to bafflement at this juncture.
My patient was diagnosed with Huntington’s chorea, but if the neurologist who announced that dramatic news had really believed his own diagnosis, he should have conducted additional tests to confirm the diagnosis, as well as offered genetic counseling, since the disease is passed from generation to generation within families.
My patient was then diagnosed with multiple sclerosis, but if the neurologist who rendered that diagnosis had really believed Amanda had MS, he should have offered to perform the standard tests that MS experts use to confirm the presence of the disease, and told Amanda about some of the new MS drugs on the market, which are considered most effective when prescribed early in the disease.
My patient was then diagnosed as an hysteric, but if that doctor really believed his diagnosis, he should have written me a collegial letter explaining his theory about Amanda’s myoclonus response.
I guess few self-respecting neurologists, especially if they thought she was seriously ill, would call Amanda’s disease by its absurdly trivial and unscientific name: ‘chronic fatigue syndrome’.
As it turns out, this name not only debases the patient who suffers from it, this name also seems to chip away at the self-esteem of the doctor, especially if he is a highly paid specialist with a reputation to protect. I suspect that’s why people suffering from CFS are showered with myriad vaguely outlined diagnoses, or no diagnosis at all, despite having prominent abnormalities during examinations and on a number of lab tests.
Very few medical schools teach young doctors about this illness, and as medical students move into specialty training, their opportunities to learn about CFS from senior doctors who have actually studied the disease become even more rare. Publishing scientific papers about CFS has become so difficult in the last decade, a group of researchers decided in 1995 to establish a journal specifically for the disease, one that would afford clinicians and scientists a forum in which to report on developments in the field. [The Journal of Chronic Fatigue Syndrome, now discontinued, but succeeded by the Bulletin of the IACFS/ME.]
I sat down with Amanda in my office soon after the third specialist rendered his opinion. We had been offered a less than appealing choice by these men, all of whom were well respected: Either Amanda was going to die, or she was a great actress.
I suggested to Amanda that rather than arbitrarily choosing one of these diagnoses out of a hat, or choosing the one we liked best, that we throw them all out.
• I told her that her central nervous system symptoms were part of a disease that none of these highly regarded specialists really knew anything about.
• I told her she had CFS.
Over the next few years, that diagnosis has proven correct. Her symptoms abated somewhat except for a marked worsening when we tried a mild stimulant drug because of the fatigue. At that time the myoclonus became worse, but, fortunately quieted down when the drug was stopped.
She has not gone on to develop Huntington's chorea nor has she developed the typical findings of MS. The symptoms persist; she has good years and bad years. So that means that she has either CFS or is a consistent fruitcake.
How do you go about diagnosing someone as a fruitcake; what, exactly, are the diagnostic markers?
Actually, while I know that many of my colleagues consider my patients fruitcakes, I am not really sure what a fruitcake is, exactly. It is a sweet pastry filled with nuts. Neurosis was defined by Carl Sandberg as the denial of legitimate suffering, and therefore most of my patients are surely neurotic as hell. But fruitcakes?
It turns out there is a diagnostic test for the diagnosis of fruitcake: time.
I have now known Amanda for several years. I have seen her during crises and during relatively good times, and the symptoms and signs persist. I have shared her sadness and anger – normal, healthy emotions that anyone should have. And as time passed I have come to admire her courage to get by despite the illness and the society's contempt. And I respect her wishes not to be referred for further neurologic opinions.
– Dr. David S Bell, MD, Lyndonville, New York, August 15, 2000
* This article is excerpted with kind permission from Dr. Bell’s classic book Faces of CFS – Case Histories of Chronic Fatigue Syndrome; © David S Bell, MD, 2000. It may be downloaded as a free eBook at Dr. Bell’s website www.davidsbell.com/DSBFaces.htmx.