By Kent Heckenlively, Esq.
For a long time I believed there was no group more wretched and abandoned by mainstream medicine than children with autism and their families.
However, after reading the magnificent book Osler’s Web – Inside the Labyrinth of the Chronic Fatigue Syndrome Epidemic by Hillary Johnson I have found a group which can reasonably lay claim to a similar level of hostility and indifference from the medical community.
Dr. William Osler was one of the first professors of medicine at Johns Hopkins University School of Medicine and is credited with establishing the medical residency system. He insisted that students learn from seeing and talking to patients. He often stated, “He who studies medicine without books sails an uncharted sea, but he who studies medicine without patients does not go to sea at all.” He’s also widely quoted for having said, “If you listen carefully to the patient they will tell you the diagnosis”, thus establishing the patient as the most important resource for the physician to solve the problem.
Osler’s approach was the reigning philosophy among medical practitioners throughout most of the 20th twentieth century. Doctors were trained to listen to patient reports and the histories they gave were generally accorded high credibility. But as medical testing became more sophisticated there was a shift in this philosophy. If the patient complained of an ailment and the medical test didn’t pick something up, the focus turned to the psychological state of the patient. Maybe the patient was crazy.
While with Osler’s approach the patient was a doctor’s greatest resource in diagnosing a problem, under the technological approach, the patient was suspect until proven credible. To take an example from the legal arena, this shift is akin to our criminal courts proclaiming a person guilty until proven innocent. The problem was not presumed to be with the test, but with the person claiming the supposed “disease.” Osler’s Web claims it was this shift which has complicated meaningful research into the epidemic of chronic fatigue syndrome. I could not help but hear echoes of the autism epidemic in this account.
Johnson explains that starting in 1984 in Lake Tahoe, Nevada, two physicians, Drs. Daniel Peterson and Paul Cheney began noticing an unusual malady in some of their patients from the wealthy community of Incline Village. The patients had generally been in good health, a number of them were extremely athletic, and at first they came down with something which seemed to be a flu-like illness. Examination of the patients found swollen lymph nodes but little else that could be detected in standard medical tests, such as those for anemia, thyroid abnormalities, diabetes, and a wide variety of common viruses and bacteria.
These patients complained of sleeping more than normal but not feeling rested, running a low grade temperature in the morning, and looking pale. More severe problems would occur in the years to come for these patients, such as the appearance of rare cancers, seizures, and significant cognitive changes including memory and concentration problems, depression, and in many cases a startling loss of I. Q. of up to 50 points. (100 is deemed to be a normal I. Q. and anything under 70 is considered to be intellectually disabled.) When further testing was done on these individuals it was determined that their level of functional impairment was often similar to that of a terminal AIDS patient two weeks away from death.
After receiving the reports of Drs. Peterson and Cheney, the CDC dispatched two knuckleheads from the CDC, Gary Holmes and Jon Kaplan. Holmes, the younger of the two seemed more interested in the opportunity for hiking afforded by the mountain resort area, while Kaplan was intent on disputing the local doctors’ account of the events.
Both researchers from the CDC were uninterested in meeting with patients, and when the medical tests couldn’t show any recognizable pattern of infection, claimed the patients were suffering from some sort of mass delusion or hysteria. These were the two individuals most responsible for creating the impression that the disease was a kind of “yuppie flu” among rich people plagued by some existential malaise. They came to these conclusions even while ignoring the evidence of another outbreak in a near-by town, Yerington, Nevada which was made up mostly of hard-scrabble farmers. I imagine Osler would have been horrified by the CDC’s investigation.
What was even worse than the initial report by the two investigators was the atmosphere of ridicule they created at the CDC regarding this mysterious disease. The contempt at the agency is probably best exemplified by what was supposed to have been a humorous letter written by a CDC employee and purporting to be from one of the thousands of disease sufferers who would later besiege the CDC for information about their condition.
It read in part, “Dear Sirs, I am sick . . . I am so tired it took me six days to dictate this letter to my secretary . . . I would like a list of recommended treatments . . . in descending order of trendiness, including acyclovir, gamma globulin, WXYZ-2, 3DOG, Vitamins A, B-1 through 12, C, D, E, F, G, H, I, J, K, L, M, N, O, P, and Q, Zinc, Cadmium, Cobalt, Neodymium, Ytterbium, lecithin, morithin, lessismorithin, sensory deprivation, walking on hot coals, purified fruit-bat guano injections, and bedrest. I have already tried Valium, Lithium, Haldol, and thorazine, but they only work when I take them. Please inform me how to get social security and workman’s compensation benefits for the above diseases. I have had them for over forty years now, and I am only twenty-nine years old.” (P. 154)
A copy was pasted on the office door of Gary Holmes, who by the time was the lead investigator of the disorder. It also remained on the division’s bulletin board for two and a half years until a staffer noticed it had caught the attention of a nosy reporter. (Hillary Johnson, no less!)
But even with the contempt of the CDC and most of the medical establishment a small group of doctors including Drs. Peterson, Cheney, as well as Elaine DeFreitas of the Wistar Institute, Anthony Komaroff from Harvard University, John Martin from the University of Southern California, Nancy Klimas from the University of Miami, Canadian clinician Byron Hyde, and New York clinician David Bell, had discovered an unusual constellation of results from medical tests which pointed to some of the abnormalities associated with this disorder.
One of the most dramatic immunological abnormalities associated with chronic fatigue syndrome was the abnormal ratio of T-cell subsets found in many patients. T-cells regulate production of disease-fighting antibodies. T-cells are divided into “helper” and “suppressor” T-cells, which alternately boost and suppress antibody production.
The ratio for a healthy person is 1 helper T-cell for every 2 to 3 suppressor T-cells. In chronic fatigue syndrome the patients would have 5-10 helper T-cells for every 1 suppressor T-cell. By contrast, the tests for AIDS patients showed 1 helper T-cell for every 5-10 suppressor T-cells. Whatever was causing chronic fatigue syndrome seemed to be a mirror image of AIDS.
The researchers were intrigued by this finding and when they, “searched the medical literature for other diseases that produced similar inverse ratios of T-cells, they discovered that the finding had not been reported before.” (Johnson wrote on P. 95 of Osler's Web)
Another abnormality associated with chronic fatigue syndrome discovered by Dr. Paul Cheney was the blood sedimentation rate, often referred to as the “sed” rate. The test is relatively primitive, requiring the newly drawn blood of a patient to sit in a test tube for an hour while the technician determines the degree of separation between the blood cells and fluid. It’s been described as being similar to watching cream separate from milk. A healthy person will have a sed rate from 10 millimeters to 30 millimeters an hour. But among the chronic fatigue syndrome patients the commonly observed sed rates were 0, 1, or 2 millimeters per hour.
“Curious about the finding, he (Cheney) took to reviewing the Nalle’s sed rate log, pages on a clipboard maintained by the clinic’s lab technicians. A total of eight doctors-internal medicine specialists, pediatricians, and gynecologists-routinely ordered the tests, which, when high, can signal cancer or an inflammatory disease such as arthritis. “Over a period of several months,” Cheney recalled later, “I would go in on a daily basis and look at those sed rates.” Every abnormally low sed rate the doctor saw, with the exception of those of very young children, in whom low sed rates are not considered pathological, turned out to be a Tahoe malady patient in his care.” (P. 214 of Osler's Web)
The new technology of MRI imaging provided another clue as to what was happening in the brains of chronic fatigue sufferers, but since the technology was so new many doctors rejected it as being of any importance.
In scanning the brains of patients with chronic fatigue syndrome with what was then the most sophisticated MRI machine they found that about fifty percent of them had small lesions in their brain, referred to as Unusually Bright Objects (UBOs) and that their position in the brain often corresponded to the type of impairment the individual was suffering.
“More problematically, the neuroadiologist had never before seen abnormalities like the ones he saw in the Incline Village patients’ brains. More than anything they resembled the brain lesions seen in multiple sclerosis, but there were significant differences. In multiple sclerosis, the lesions-or plaques, as they were known-were anywhere from three to four millimeters up to a centimeter in size. There were far fewer of them, and they were located in the central white areas of the brain next to the ventricles or brain cavities. In contrast, the Tahoe patients’ lesions were tiny pinpoint, or punctate, spots; there was nearly always a multitude of them and they appeared in a different part of the brain.”
“In my mind, I just don’t think these could be easily confused with the MR scan abnormalities that you see in multiple sclerosis,” the doctor said. They were new-located near the top of the brain near the white matter tracks, some distance from the ventricles. To be perfectly honest with you, he continued, we weren’t sure what they were or what they meant. Even know we are not one hundred percent sure what they mean. But they were there. And the patients were sick.” (P. 79) Later testing would reveal that about 77 percent of chronic fatigue sufferers had these lesions in their brain. (P. 215 of Osler's Web)
In Johnson's account, what was most frustrating to the medical practitioners trying to validate this disease and provide some level of treatment to the patients was the hostility of the general medical community to their findings. Patients would go to world-famous centers of medicine like Stanford University where the doctors would refuse to even look at the results of medical tests brought by the patients. It was as if the medical community, having listened to the contempt of the CDC had decided there was no actual disease and didn’t want to be bothered by any inconvenient facts.
An example from 1992 illuminates the problem. “Dan Peterson’s despair over the state of medical progress on CFS continued that summer. “I don’t think this is getting better, he said in June. “I think it’s going backward. Everybody selectively ignores evidence, like sky-high cytokines, brain lesions. I just sent one of my patients to UCSF. She had huge brain lesions. She saw a world famous neurologist there. She came away with a psyche diagnosis.” (P. 594 of Osler's Web)
But the small cadre of doctors investigating the disorder, led by Dr. Elaine DeFreitas seemed to be making significant headway into discovering what was causing the malady. Specifically, it seemed to be an unknown type of retrovirus which would in turn reactivate infections of the Epstein-Barr virus, and human herpes-virus 6 as well as others. DeFreitas found that in identifying the virus specific protocols had to be followed, such as not freezing the blood because it destroyed the cellular DNA in which the virus like to nest, the sample needed to be cultured for 10-12 days in order to generate significant numbers of the virus, and specific primers needed to be used.
In attempting to replicate her work the CDC did not follow these protocols. This small cadre of doctors had also been joined by Walter Gunn, a CDC employee who had taken over for Gary Holmes and in the view of the CDC had “gone native” because he believed the CDC was not dealing with the issue in the appropriate scientific manner. Rather than continue to assist the CDC in their behavior, Gunn retired from the CDC to help the small group of medical rebels.
All of this was made more frustrating by the development of an apparent treatment, a drug called Ampligen, an immune system modulator which seemed to balance the ratio of helper and suppressor T-cells so the body could at least temporarily keep the virus at bay.
“By mid-September, Dan Peterson’s pilot study of Ampligen was officially over. All the patients had undergone an elaborate series of tests including treadmills, mental status exams, MRI brain scans, and careful assessment for human herpes-virus as well as a range of blood tests. Eight patients experienced dramatic improvement by several measures. Their performance I.Q. levels rose. Consumption of oxygen, tested by walking on a treadmill, increased “markedly,” Peterson reported, in 60 percent of the patients, some of whom had greater than 100 percent improvement without engaging in any exercise program. Interestingly, Ampligen also reversed high levels of human herpes-virus 6 proliferation in assays by tissue culture.” (P. 355 of Osler's Web)
Johnson noted that Ampligen also seemed to cause the disappearance of the UBOs noticed on MRI scans, but when the trial was stopped the effect did not continue and the patients lapsed back into their previous state of poor health. Many of the participants referred to this as “The Charly Syndrome” after the main character in the book Flowers for Algernon, a mentally disabled man who undergoes a medical procedure which temporarily renders him a genius, only to find himself slowly slipping back into his previous state of mental retardation.
When the CDC came out with its own report on evidence of a possible retroviral connection to chronic fatigue syndrome it was predictably negative since they had not followed the procedures so clearly laid out by Dr. DeFreitas. The medical community went back to blaming the patients. The reputation of Dr. DeFreitas would never recover.
One of the fiercest advocates against the proposition that chronic fatigue syndrome was an actual illness was Dr. Stephen Straus. By the time Dr. DeFreitas’ reputation was in tatters in 1994 he could again spout his beliefs freely.
“In a few sentences, Straus also dismissed the by-now nearly fifty papers describing immunological aberrations in the disease. “It’s fair to say,” he said, “that the findings in these studies are not reproducible.” He denied the legitimacy of reported neuropsychological abnormalities with the comment “Very little cognitive impairment is actually verified [on careful testing]. . . Most remarkably, Strauss concluded by blaming parents for at least some part of their dilemma. A significant portion of their symptomatology of the disease, he commented, was a result of “poor sleep hygiene” and failure to exercise.” (P. 685 of Osler's Web)
Like autism, chronic fatigue syndrome presents a quandary for medical professionals not following Osler’s principles. We are suspect in the eyes of the medical profession, first from claims that autism was caused by “refrigerator mothers”, then in the 1990s the claims that we were pushing this diagnosis because we were greedy parents who wanted more services for our children, to the current claim that we are resistant to science. I was fortunate during the recent Autism One conference to meet Hillary Johnson and discuss many of our common complaints with the current medical establishment. Like so many in our community she has become a warrior for her cause and her example inspires many, including this writer.
Something is wrong with our children. Could it be a retrovirus as it appears to be in chronic fatigue syndrome? Other infections? Toxins? Might genetics play a role? I know science can answer these questions if they approach it the way Osler suggested they look at any new problem. We parents are not the problem. The disease is the problem.
I've often thought that all sufferers from mystery ailments, ranging from autism and chronic fatigue to Gulf War Syndrome need to band together in an army of the wretched and ignored to put science back on its proper course. Osler wrote, “Medicine arose out of the primal sympathy of man with man; out of the desire to help those in sorrow, need, and sickness.”
How I wish Dr. Osler were alive today.
Kent Heckenlively is Contributing Editor to Age of Autism