“I cannot forecast to you the action of Russia. It is a riddle, wrapped in a mystery, inside an enigma; but perhaps there is a key. That key is Russian national interest.” —Winston Churchill, 1939
From where I sit, the riddle of Lyme disease is one of medicine’s and health’s most maddening matryoshkas. Like a Russian nesting doll, Lyme disease is presented to bystanders as straightforward and uncomplicated. In fact, many share the opinion that Lyme is “hard to catch, easy to cure.” Indeed, some are cured easily. Indeed, some are not.
Inside the deceptively rosy-cheeked outer shell is a second doll, one with a sadder countenance. No one expected to find her in there. Looking at her, many people would say she looks depressed or anxious. If you ask her, she will say she is ill, containing multitudes of complex systemic problems within. She asks you to help her pry herself open to figure out what is going on inside. But unlike the first doll, it’s difficult even to figure out where to begin. To get inside this second-level being requires a key. What’s the key? Is it hidden in her nervous system? Her joints? Her blood? Her immune system?
As her family doctor, you give each system a once over…it seems all those look fine on the surface. Yet she says all of them are breaking down. You order some blood tests. She is worried and ashamed when you suggest an HIV test, a syphilis test. She isn’t at high risk for either, but all these symptoms together? That’s unusual. It’s best to be safe.
All the blood tests are normal. That MRI you ordered for her dizzy spell shows an unremarkable brain—no multiple sclerosis lesions. No tumors.
You know she’s fine as the doctor, but something is driving her to keep coming back. Something is upsetting her life. She even came back and told you that she went to see a neurologist, a rheumatologist, an allergist all on her own—without your referral! She was embarrassed, she said, after the way you spoke to her. She thought it was condescending. She thought you were blaming her for how she was feeling.
Either way, Ms. Matryoshka has returned and is pleading for your help.
Now you have a difficult choice. She is asking you to help crack the code of what’s making her ill. You’re not sure what else to do. You could stop here and call her crazy—you did note that of all the specialists she sent herself to, none of them was a psychiatrist—or you could keep looking for a way inside.
You’re either busy and bothered and eager to move on with your life and easier challenges, or else you are the type who in the 1980s would relentlessly and obsessively work to solve a Rubik’s cube, and who wouldn’t be satisfied until you solved it.
You’re exhausted thinking about the time this case will take. You feel a little flicker at the crown of your skull: it’s that cartoon lightbulb that dings alight with the eureka! moment.
There’s one thing you know you can try:
“Ms. Matryoshka, have you ever taken Zoloft?”
Same Doll, Different Diagnoses
The extended metaphor has worn terribly thin now, so let’s deal in reality. In the little case study above, you are the doctor. Your patient, just like that Russian doll, is a perfect picture of adorable wellness, rosy cheeks and all. Yet she says she’s not well. She is at the brink of using up all her sick days. You took this very seriously at first, but then you ran all the labs and discovered there’s no evidence of anything being wrong with her.
Eventually her frustration transferred to yours; she leached your office time away, and ultimately you reached for the prescription pad and gave her an antidepressant as a last resort.
Is it possible that this patient, being trapped inside of her body, is actually feeling the things she tells you she feels—even though the medical tests you ran suggest all her parts are in working order? Is it possible that after hundreds of thousands of years of Homo sapiens evolving—not to mention the eons of pre-human lineage—the human body might contain more sensitive sensors of illness than the medical tests that have been developed by human beings over the past century?
Or should we have full confidence that at standard blood panel and an MRI can be used as a form of medical lie detection when a patient presents with what she says are a complex array of migrating, ever-changing, multi-system health problems that keep her in bed most of the time and are endangering her job? Is it possible that emerging, unknown and rare conditions may not play by the rules of diseases described in medical textbooks, that they may have their own ways of doing things? Or have diseases agreed to play by our rules, never blurring the lines between the isolated systems covered by a neurologist, a rheumatologist, a gastroenterologist, or any other specialist who looks at a defined organ system is isolation for illnesses caused by any one of an already-defined types of illnesses that stay carefully confined to the systems to which they belong?
I spoke last year with Andreas M. Kogelnik, M.D., Ph.D., director of the Open Medical Institute, a self-described infectious-disease doctor and “also a data nerd.” Among other valuable insights, he said:
There’s this whole host of conditions that are either triggered by an infection, as they are themselves an infection, like Lyme or Bartonella. Or we just don’t even know yet… people think there’s an autoimmune component. But all of them circle around the immune system and metabolism and some of them around pathogens [that cause] major dysfunction at multiple levels of the body, becoming chronic in many cases.
So I was fascinated by this, and I said… if there’s any patient group that needs analysis and redefinition more, this is one of them. I started meeting a lot of people in the field and getting into the controversies with different conditions, be it Lyme, chronic fatigue or other related conditions. I realized there was this huge gap between what is happening to patients and what should be happening in the medical field.
As physicians, we’re data stupid. We don’t have enough data around our patients in many patients, particularly around complex illnesses. I would put Lyme front and center as one of those cases. People stand on a lot of pedestals talking about stuff when they really don’t have much data about it, on all sides of the fence. A lot of positions are determined by where people stand on their thought processes. We need more, better data on these things… and put aside all this political nonsense.
Patients are sick and there’s no question that a lot of them are really, really sick and that needs to be addressed.
Medical doctors are educated so rigorously that the early years of their studies can parallel boot camp in many ways. They are put through the ringer, and they emerge into their full-fledged independent careers with a great amount of experience and, understandably, great confidence. This doesn’t make them either omniscient or infallible. To be sure, doctors can be life-saving godsends—unquestionably. At the same time, medical school commercials should come with the same sorts of disclaimers that drug commercials do, relaying relatively rare but devastating side effects: Medical training may contribute to harmful inside–the–box thinking that denies care to patients whose diseases have not been known for decades are not represented well in medical textbooks. If you experience patients who tell you they are sick and you’re inclined to tell them they’re not, talk to another doctor who treats emerging and rare diseases and consider that the sudden rush of patients who have unusual symptoms and are begging you for help may be seeking help for legitimate health problems and not trying to scam you. Negligence of these patients may result in long–term damage to their well being, contribute to suffering and disability, and in rare cases may cause death.
Most doctors—general internists—only see the first doll, the outside appearance, and then draw on various tools available to them—blood tests, X-rays, magnetic resonance, electrocardiograms, etc.—to gain impressions of what’s inside. This usually is sufficient to diagnose illnesses; in fact, I’d venture to guess that these diagnostic tools exist as they do because they were created specifically to make most diagnoses. In other words, diseases that are common begat common technologies that diagnose them. Most doctors unquestionably are masters of diagnosing the common diseases and disorders that can be determined through these means. Early in my career, I was charged with copy editing 400 pages of ambulatory pediatric diagnostic guidelines. They were exhaustive, seemingly endless, and the expectation that all pediatricians would carry in their minds these checklists and flow charts as a matter of course impressed me. It gave me tremendous respect for and confidence in medical practitioners.
More recently, I have gained further insight into the majority of doctors only through life experience and then through encountering hundreds of patients like me. I have learned that a great share of healthcare professionals are both exceptionally intelligent and competent, and exceptionally self-limited. They allow for and construct walls as deep and tall as only Donald Trump could dream up and install them along the boundary lines of illness. Unfortunately for patients and for public health, illnesses have even less respect for these artificial barriers than determined and desperate refugees will have for Trump’s wall.
All competent doctors can diagnose anything that’s obviously wrong on the surface—cuts, bruises, a broken nose. Likewise, all competent doctors understand how to treat easily diagnosed common diseases—strep throat, for instance, is pretty straightforward: A suspicious-looking clinical exam begets a culture, which the laboratory reports as positive, and the doctor scribbles an antibiotic prescription on her prescription pad. It’s a done deal as long as the patient sticks to the treatment plan. This entire diagnosis hinges on the reliable, one-hundred-percent effectiveness of the strep culture. If the strep culture were only correct 50 percent of the time, given how common strep throat is, we can be sure that secondary means of diagnosis would be determined—right?
A system exists for less straightforward illnesses. This system involves specialists, each of whom treats one isolated body part or physiological system, and this practitioner has highly specialized experience. For example, I saw my doctor when I experienced sudden, severe neurological problems. My doctor ordered an MRI and referred me to a neurologist. The neurologist read the MRI technician’s report and, based on his own physical examination, referred me to a neuro-ophthalmologist—a doctor who exclusively deals with optic nerves. This specialist recognized two anomalies with my eyes: My right optic nerve margin was “blurry,” and I had cataracts. Neither is normal at my then age, 33; neither was enough evidence for any kind of conclusive diagnosis, and so…well, that’s all. I had reached the end of the line. (More than 10 doctors in all, over more than five years; I’ve documented the process exhaustively, doctor by doctor, here. Understandably, most people don’t have the time or interest to read that—but you can bet that patients with chronic illness who are in similar situations need this sort of information to reassure them that, no, your physical illness is not caused by mental illness despite what some doctors may have told you.)
Inside-the-Box Practice for Bugs Without Barriers
Herein lies a challenge: My problems did not respect borders drawn by the medical profession. I had a number of neurological problems. I also had severe joint pain. The nerve and joint pain was relegated to the left side of my body, as is typical of multiple sclerosis, except when it wasn’t.
That explanation stumped two different neurologists—no, both told me, if you had MS or a similar disorder, the pain would be all on one side. It doesn’t move around. In both cases I apologized to the doctors for my body’s disrespectful violation of a textbook description, but reported my experience as it happened.
Not only that, but I had other symptoms that defied Western medicine’s Trumpian walls. Sometimes my left leg, hip, left arm, the left side of my neck and face were numb, tingly or had terrible pins-and-needles pain. Sometimes they felt almost fine, but there was terrible pain in both of my feet. Sometimes my right foot went totally numb on its own. For two days, my right hip felt as if it had razor blades inserted into the joint and the pain cut with every move. Both of my elbows always hurt, no matter what. And then there were the eyes: Something is always off with the right one, sometimes with semi-double vision, sometimes it’s just hazy. Sometimes, though, it’s both eyes. Sometimes I am almost fully deaf in my left ear, and sometimes I can hear pretty well but have tinnitus. Also, I don’t know why since I’ve had a 30-inch waist since I was 17 years old, but my body from shoulders to knees is covered with stretch marks, and more seem to appear every month. My MRIs, electromyographs, nerve-velocity conduction and visual and auditory evoked potentials were all unremarkable.
I had—I still have—fasciculations, or twitches, in muscles all over my body. Randomly, without following any rules. Given my other symptoms, doctors tested me immediately for ALS. Not failing the ALS-determining tests, the fasciculations were dismissed as “benign fasciculation syndrome.” BFS essentially means, “this patient twitches, and we don’t know why, but it’s not a big deal. Whew!” What’s so…strange to me about this sort of diagnosis is that it’s an all-or-nothing, end-of-the-line diagnosis. The twitches are assumed to be either an indicator of a progressive neurodegenerative disease that is usually terminal, or else they’re assumed to be, like, totally not a big deal, dude! Is there no in between? If annoying fasciculations can be a symptom of ALS, is it possible that they can be a symptom of other disorders—particularly when they accompany other serious neurological and arthritic complaints? No? All or nothing? Oh, OK, well then let’s move on.
We’ve run all the tests, said the doctors, looking at me, seeing that second-layer Russian nesting doll who was obviously distraught. They were frustrated. With me, not with the enigma of my body. There’s only one remaining explanation: You’re depressed and anxious. Have you seen a counselor? A vacation could solve all your problems, and if not that, then you should probably be on antidepressants.
Yes, a doctor told me that. Others implied similar sentiments without explicitly saying so.
These doctors are by far the majority of American doctors. They know their textbook diagnostic criteria, and they know common or specialized tests to order. In the cases of specialists, they order some exotic tests, but even these tests are limited to very specific body parts or sets of parts, in isolation, without any consideration of other systems.
For some of us, the key to unlocking the riddle wrapped in the mystery wrapped inside of the enigma is looking at these disparate body parts as one connected system.
What About the Diseases That Invade Over, Under and Around the Wall? Do They Get a Pass?
Think about it this way: In Donald Trump’s mind, there is a simple solution to what he believes to be the greatest problem facing the United States. Put up a great wall with a big, beautiful door, and murderous, sun-soaked illegals will stay out. This will fix everything forever.
But those “illegals,” who see themselves and their children as human beings desperate for better lives, don’t believe their existences are illegal. In the context of their lives, they don’t have the luxury of respecting Donald Trump’s constructed world view; they need to save themselves. And so they tunnel. They fly. They paddle or sail or motor up the coast. They get in anyway. And while all the attention and all the resources are diverted to this ineffective wall that denies the nature of objective reality, Mother Nature has her own plans. As global climate patterns change, once-rare category five hurricanes build and rage. Not only are they not stopped by the wall or impressed by its gold-plated gate, these storms seem to mock it as they blow it over, brick by brick, and carry those bricks out to sea and over the land with floods.
If you can forgive the mixed metaphors, the point is that both medical science and politics are prone to being so human-centric that they can lead to the creation of illusory, false borders that we as people are convinced are real even when nature continually demonstrates that they are not.
Some medical practitioners don’t subscribe as fully to the generalist-OR-specialist dichotomy, and this is the saving grace for many patients who live with what have come to be known as chronic illnesses. In my mind, these doctors (who in many cases are condemned by their peers for blurring boundaries and going beyond clearly drawn lines) are the same people who in the 1980s dedicated themselves to solving the Rubik’s cube. They’re fans of mystery novels and Masterpiece Theatre. They see not hypochondriacs, but suffering patients who have complex, challenging medical problems that beg to be solved.
In other essays, I’ve listed the countless, sometimes surreal medical tests that internists and specialists ordered for me for years before all offered one of two diagnoses: Either a) anxiety, depression, another mental disorder, or an overactive imagination were making me think I was ill when in fact I was only mentally ill; or b) I had a physical illness of unknown etiology that simply could not be explained or even detected through any existing medical tests.
This was the consensus and, I’ve learned, medical science is not altogether a scientific enterprise—it is a dogmatic one—in that prescribed and then adopted group opinions always overrule (actually condemn) continued questioning and investigation.
As it happens, there are doctors who call themselves a variety of beyond-the-mainstream (and therefore generally condemned) terms that range from (perhaps most acceptable) holistic practitioners to (certainly among the most generally denigrated) Lyme-literate medical doctors. Many of these doctors have the determination of the kid who won’t put down the Rubik’s cube, or the refugees who are fleeing a hopeless life for a more difficult one that may at some point beget some level of opportunity.
A doctor I eventually found scoffed at the notion of my having had “every possible test.” Taking more blood than I knew in my body after the first visit, within a few weeks an important anomaly presented itself: A sky-high c4a complement level. This test was not ordered by any of the dozen or so generalists and specialists I had seen. It indicates systemic inflammation, and it has been linked to a number of specific diseases, including rheumatoid arthritis, lupus, AIDS and Lyme disease. I cannot underscore the importance of this test result enough. It is an objective measure of a potentially severe health problem. After more than five years of medical investigation and being dismissed by every single doctor up to that point, continually told that I was either mentally ill or inexplicably ill, there was now evidence of illness and the beginning of an explanation. The only doctor to have thought to order this test, being condemnable (Please read that as frustrated sarcasm.), had a crazy notion that my history of having been diagnosed with and treated for Lyme disease, and my symptoms that are entirely typical of late-stage Lyme disease, combined with a blood test that suggests Lyme disease and ruling out other illnesses it suggests, including lupus (ANA and related tests all normal) and HIV/AIDS (negative), suggests Lyme disease may be a cause.
This rationale, to me, seems logical. Yet most mainstream practitioners would altogether dismiss this notion and instead prescribe Zoloft—really. That’s not a joke. It is both my own experience and representative of the experiences of literally hundreds of people with whom I’ve spoken or corresponded.
More recently, I learned about a condition called mast cell activation syndrome/disorder (MCAS/MCAD), which co-occurs in a number of Lyme disease patients and is thought by some to be potentially triggered by Lyme disease. (Importantly, this is considered an autoimmune condition, and although the CDC in no uncertain terms denies all evidence of persisting Lyme disease infections, it now does acknowledge the possibility that damage caused by acute Lyme infections may trigger what it refers to as “auto-immune” (the quotation marks are CDC’s) conditions.) MCAS is characterized by some highly specific symptoms—unlike Lyme, whose symptoms can be mistaken for those of many other illnesses—including dermatographic urticaria, heat- and exercise-induced anaphylaxis and generalized hives, and flushing, co-occuring with less specific symptoms that include severe acid reflux, breathing difficulty, and vision and hearing problems.
I approached my doctor about MCAS and unlike most peers, this doctor was neither offended nor bothered that I, the patient, had a notion of what may be wrong with me. Instead, the doctor said, all right, let’s test your tryptase level. If it’s high, then you may have a mast cell disorder. You can guess the foregone conclusion—yes, this level is high, exactly in the range typical of this rare disorder.
To recap, I spent about six years going from doctor to doctor to doctor and was told by multiple doctors that I was either crazy or had a mystery condition that is undiagnosable, and that antidepressants and antianxiolytics were the best treatment.
And then I found a doctor—an internist, by the way, not someone who specializes exclusively in rare diseases—who within two years ordered tests that show objectively that my body is out of what and which suggest why this may be. While antidepressants may be a Band-Aid for some of the symptoms (and may exacerbate others), there’s a treatment, at least, for MCAS—antihistamines and dietary changes. That’s it. No multi-gazillion-dollar obscure chemotherapy chambers, just histamine-1 and histamine-2 blockers. And you know what? They’re helping.
I don’t resent all the doctors along the way who weren’t aware of this supposedly rare health problem. I don’t resent any of them for not thinking to test me for it—that’s forgivable. I do resent the ones who blamed me for them, though, and especially those who denied them, even as some are written on my skin. That’s inexcusable.
The CDC estimates presently that over 329,000 Americans contract Lyme disease every year. It is an epidemic, by no means uncommon. Autoimmune diseases are on the rise—many are rare, and most are little understood and frequently misunderstood. It wasn’t long ago that the medical institution had a similar attitude toward lupus patients, not understanding their conditions and telling them to relax. It was long ago—nearly three decades—that Dorothy Zbornak, the character played by Bea Arthur in The Golden Girls, had a two-episode story arc in which she became severely ill and was told by multiple doctors that she is either pretending to be ill or imagining that she is ill—either way, she was crazy. At the end of the second episode, audiences found out she had a strange new condition called chronic fatigue syndrome (CFS). We don’t know what causes it, a doctor told her. We don’t know how long it will last. Most doctors don’t know anything about it. But one thing is certain: the disease is real.
All these years later, the CDC describes CFS as “a chronic and debilitating” illness. The term CFS is still used, but the disease also has a more legitimate-sounding name, myalgic encephalomyelitis (ME). According to the Solve ME/CFS Initiative, one to 2.4 percent of Americans are known to have the disease, and “fewer than 20 percent of ME/CFS patients in the United States have been properly diagnosed.” And yet, as with Lyme and many other multi-systemic chronic illnesses that defy the allopathic internist/specialist wall, the federal government invests only a token amount into MS/CFS research. Even though the CDC refers to it as chronic, debilitating and complex, 30 years after it was the subject of an unusually serious two-episode sitcom story arc (inspired by the show creator’s own experience)…it’s simply not a public health priority in the way, for example, Zika virus is. Zika may result in a truly horrendous birth defect called microencephaly—yet only around 5,100 Americans to date have contracted Zika, whereas ME/CFS is estimated to affect 2.5 million; the federal government spent $1.1 billion on Zika virus in 2016 ($220,000 per patient) and $7 million per year (to research CFS/ME $2.80 per patient).
All this is to say that Zika is potentially debilitating and a top federal priority, and ME/CFE is chronic, debilitating, complex, and among the lowest-priority health issues, warranting the same annual research investment from the National Institutes of Health as climate change and mucopolysaccharides, and $2 million less than agent orange, which was banned by the EPA in 1985.
All this is to say that federal research priorities and funding allocations seem to be determined by something other than disease prevalence and disease severity. While HIV is, thank God and science, well controlled by medical interventions today, it is less prevalent than either Lyme or CFS/ME and yet receives a far greater share of federal research dollars. The same is true for other diseases such as breast cancer. What determines these priorities and funding allocations? If you think it’s how common the diseases are, think again. If you think it’s how severe these diseases are, think again—some equally severe and equally prevalent diseases don’t receive anywhere near the same level of federal investments. The one common factor seems to be strong political activism and advocacy movements. And this system may be a particular detriment to communities of patients whose illnesses are not as often alarmingly fatal as HIV/AIDS once was, and whose illnesses are characterized by extreme, chronic fatigue that gets in the way of actively organizing the way HIV and breast cancer awareness activists have done.
THE SOLVE ME/CFS INITIATIVE
My doctor, certainly a hero of my life, didn’t simply look at the sad, frustrated visage of the second-layer Russian doll. This doctor found a key to unlocking that second layer, cracked it open, and found a third, a fourth, a fifth, and so on. This doctor appears fascinated by the mystery of how the human body interacts with the environment, including pathogens and including its own sometimes-fallible defense system, but in the end is motivated by helping patients, not cycling people in and out of the office and dismissing the most difficult of them as lost causes.