Sit Down Before Reading: A Memoir by Dave Bexfield
Trying to counteract the anxiety that is now surging, I try to self soothe, tell myself that it’s likely Lyme disease. That’s the only thing that could make sense.
On August 16, 2012, 43-year-old Meredith O’Brien tried to make herself comfortable on the examination table’s crinkly paper. The Massachusetts native had had another bout of numbness and facial palsy. What was going on? The seasoned journalist had narrowed down the possibilities to three: a herniated disc/pinched nerve, Lyme disease, and multiple sclerosis. The first option was quickly eliminated by doctors, leaving just Lyme and MS. Even though she didn’t remember a tick bite, “Lyme disease had seemed like a realistic possibility.”
For good reason. Living in New England, Meredith and her husband Scott had always been hypervigilant when it came to ticks and potential exposure. Their dog, Max, routinely brought “creeping insects” into the house and over the years the couple “had removed a great many ticks that had nestled between his thick tufts,” routinely pinning him down to remove the blood suckers with tweezers. But it wasn’t just the dog. “My younger son Casey, who used to love playing in the woods that surround our yard, once had a tick lodged in the back of his head” that had dug in so deeply that “his pediatrician had to numb the area before extracting the remnants of the pest with a surgical instrument.”
Facial palsy or numbness is the most common first sign of Lyme neuroborreliosis in the United States. Meredith lived in a tick infested area. Everything shouted untreated neurologic Lyme disease. Until it didn’t. Never mind that Lyme can produce brain and spinal lesions and can reaffirm virtually every MS diagnostic test coined by man, literally: the Babinski reflex, Dawson’s fingers, Lhermitte's sign, Uhthoff's phenomenon, the whole lot. Although there is no blood test for MS, the blood test for Lyme disease was negative, taking it “officially off the list of culprits,” Meredith wrote in her 2020 memoir, Uncomfortably Numb: a memoir about the life-altering diagnosis of multiple sclerosis.
Her journey into a lifelong, disabling illness began like countless others who test negative for the tickborne disease. She was officially diagnosed with multiple sclerosis months later. Textbook MS, said the doctors.
Gary and Daniel and Gregory
Before Gary was diagnosed with MS in 1995, a coworker noticed his face looked off, slumping, as if a shot of nonexistent Novocain had yet to fully wear off after a root canal. “I had spent four days canoeing in the boundary waters canoe area of Northern Minnesota. And had removed ticks from my body.” He had also had some wonky eyesight issues. A new test that detects Lyme disease had recently come out, so he was given one. Then another. And another. All were negative. “The MS doc just said it felt like MS, not Lyme.”
The diagnosis didn’t feel right to Gary despite the feels of his MS doc. A year later he made his way to one of the country’s leading MS/Lyme experts at New York’s Stony Brook University to get her opinion. “I provided her with all the history, the MRI results, [and] that I had removed ticks from my body only a couple of months before MS came out of the blue into my life. She came to the conclusion that it was MS, not Lyme.” To confirm the diagnosis, Gary was given a spinal tap to check for evidence of Borrelia burgdorferi antibodies. There were none. It therefore must be multiple sclerosis. Textbook MS.
In October of 2003, Daniel was out hiking with a girlfriend when “I unknowingly played host to a veritable colony of ticks after an off-trail hike (wearing shorts, of course … genius!).” He got a rash, but it wasn’t a telltale bulls-eye rash indicative of Lyme, so he thought no biggie. A little over a month later he started having balance issues and sporadic double vision, so he scheduled a visit with a neurologist. Both symptoms had abated by the time he went on an overseas trip to the UK in December of that year to meet an AOL Instant Messenger crush (“I was years ahead of the curve for online romance!”). But that was his last foray as a baggage-free eligible bachelor. His Lyme disease test was negative—just a single band of the five needed was present, #41. “My neurologist at the time ignored my experience with ticks, and all doctors since have exhibited the same selective deafness.” He was officially diagnosed with MS on January 13, 2004. Textbook MS.
But not every diagnosis is so easily clearcut. Ask Dr. Gregory F. Maassen. The global executive struggled to find a diagnosis for his strange array for neurological symptoms, as doctors in South Africa and then his home country the Netherlands had thrown up their hands and, unable to find a cause, settled on “psychosomatic” as the most likely culprit. The Fulbright scholar with a wealth of senior management experience was having none of it. He sought a third opinion from the experts at Johns Hopkins and told them his story.
While I was based in South Africa managing a regional USAID trade program, I enjoyed wildlife hiking on the weekends, and I even wrote a hiking book. During one of the hikes, I unknowingly walked through a nest of ticks, and although at the time this seemed like more of an annoyance than anything else, this proved to be a life-changing incident. Although we did not know it at the time, it appears I was exposed to a pathogen of unknown origin that made me critically ill in a very short period of time. [full story]
The experts at Hopkins zeroed in on a cause swiftly. It shockingly wasn’t textbook MS, but based on their ultimate diagnosis, it doesn’t take much imagination to guess how that unfolded. The test for Lyme disease was negative. MRIs of the brain and spine were negative for lesions consistent with MS. His spinal fluid revealed no additional clues. With those options comfortably nixed, a standard skin biopsy all but confirmed peripheral neuropathy, specifically post infectious small fiber neuropathy, typically treated with over-the-counter pain relievers, topical treatments, anti-seizure meds, and antidepressants. Textbook peripheral neuropathy.
Shortly thereafter, Dr. Maassen moved to the US permanently, stopped working full time, and accepted his fate with fierce determination. He eventually found himself an advocate and documentarian for the disease, e-biking across the country for one of his life’s new missions: www.ebiketour.org to raise awareness and funds for the scourge of peripheral neuropathy. He had finally received his diagnosis—but was it the correct one? Peripheral neuropathy is seen in more than one third of late Lyme disease presentations and a complication of small fiber neuropathy is wildly common as nerve damage and Lyme go hand-in-hand.
Like Meredith, like Gary, like Daniel, like Gregory, and like me, our futures were instantly and irrevocably reshaped by a single “negative” test, affecting virtually every major life decision and relationship. For me it closed doors, slamming shut dreams that had every opportunity to be a reality. Live and work overseas? No. Maybe have a child in your 30s? No. Buy a home with more than a single step due to the potential of increasing disability? No. Invest in a vacation cabin in the mountains that might have turned out to be an unwise decision anyway? No. Change careers briefly to teach snowboarding to disadvantaged youths, hitting the slopes daily, while living in a cabin in the mountains far away from the nearest Thai restaurant, a frustrating fact that I might have pondered nightly? No. Even the smallest of decisions—purchasing a new dining room table—had to mesh with the diagnosis. That eight-top, square, bar-height mahogany table Laura and I yearned for was just too risky given my uncertain future. And forget that new Persian rug, now a potential future tripping hazard. Because the test said so.
Was Meredith, Gary, Daniel, or Gregory misdiagnosed? I don’t know. But I do know that there are enough red flags that I’d want more certainty—certainty that is currently impossible to achieve. Yet researchers and doctors around the world still religiously rely on these test results. Until, in an act of desperation, they don’t.
Finally, documented, research-backed proof that the tests used to detect Lyme disease... can produce false negatives in patients diagnosed with multiple sclerosis, [is] spurring MS specialists worldwide into action to further investigate this alarming discovery. Is what should have happened.
More Red Flags, and a Hunch
Johanna Sjöwall, a post-doctoral researcher at the Clinic of Infectious Diseases at Sweden’s Linköping University Hospital, was called in for her expertise after two specialists—a neurologist and a rheumatologist—had hit brick walls with one of their patients. “Emma” was a 20-year-old young woman who had been diagnosed with multiple sclerosis at the age of 17. Neuromyelitis optica was suspected at first, but MS became clear after supportive laboratory findings for the neurological disease appeared on MRI (lesions on both her brain and spine) and in her CSF. Textbook MS. She was started on Rituxan, a popular MS therapy used in Sweden.
Her disease progressed uneventfully until a year and a half later, when a knee randomly swelled and stiffened, restricting movement. This new complication, which had persisted for six months, eventually led a rheumatologist to also diagnose her with monoarthritis, arthritis affecting a single joint. But the synovial fluid in her knee joint taken with a knee puncture didn’t reveal typical arthritic crystals. She was then examined by a third specialist, a dermatologist, who guessed panniculitis, or inflammation of subcutaneous fat. Dr. Sjöwall had another suspicion.
In some of Emma’s earlier bloodwork, the infectious disease doctor noticed a faint glimmer of evidence that Lyme disease could be in play. A low level of Borrelia antibodies were discovered, but the connection to Lyme was weak at best and the antibody results were “interpreted to be of dubious significance”—the equivalent of a mere single band on the Western Blot. She pressed on.
A lumbar puncture was ordered, considered the gold standard in Europe for detecting the infectious disease, and that too returned a total absence of telltale Lyme disease markers: zero intrathecal Borrelia-specific antibodies or elevated levels of the B-cell chemokine CXCL13. Nothing in the blood, nothing in the cerebral spinal fluid. But then a shocking discovery: Borrelia-DNA was detected in a skin-punch biopsy of her swollen ankle. Positive. It absolutely was Lyme disease.
The correct diagnosis was not made until Borrelia-DNA was detected in the skin biopsy. This is consistent with previous and more recent findings of improved diagnostic accuracy using detection of the Borrelia genome in the skin of patients. … Our case clearly illustrates that, during treatment with B-cell depleting therapies, infections may give rise to an atypical clinical picture as well as a weak serological response to specific pathogens.
—Frontiers in Neurology, February 2021
With a new diagnosis in hand—Borrelia associated dermatitis and arthritis (Lyme disease)—Emma was sent home with a three-week prescription of doxycycline (200mg once daily). Dr. Sjöwall and colleagues wrote up the case study, Case Report: Borrelia-DNA Revealed the Cause of Arthritis and Dermatitis During Treatment With Rituximab, for the February 2021 edition of Frontiers in Neurology. At its conclusion, they sounded the alarm. “This case highlights that Borrelia-specific antibody levels cannot be reliably interpreted in patients who have received B-cell depleting therapy.”
A Smoking Gun?
Finally, documented, research-backed proof that the tests used to detect Lyme disease—in the blood or in the CFS—can produce false negatives in patients diagnosed with multiple sclerosis, in particular those who are taking therapies that suppress the immune system. This eye-opening news swiftly spread through neurology circles like a late summer California wildfire, spurring MS specialists worldwide into action to further investigate this alarming discovery. Is what should have happened.
Instead, in the near two years since publication, 1,604 people have breezed through the case study (I probably account for 10 percent of those), it received a single mention in a small news story that is no longer online, and one person tweeted about it to a handful of followers. Worse, to date no published journal article has cited the potentially groundbreaking study. Dr. Sjöwall would have gotten more attention had she been ringing a bell dressed up as Santa for the Salvation Army at a defunct outlet mall on a cloudy December afternoon in Des Moines. But there’s a larger tragedy here, one that even she is unaware of.
What if, as she has theorized, it isn’t the B-cell depleting therapy that is rendering tests for Lyme disease all but useless? What if it is simply the type of Lyme that evades traditional testing? That would immediately call into significant question the diagnoses bestowed upon Meredith, Gary, Daniel, and Gregory. And Emma’s multiple sclerosis.
Before the Swedish infectious disease doctor had delved into Emma’s case, the young woman was looking at a trifecta of diagnoses at a minimum: MS, arthritis, and dermatitis. Not so incidentally, all three are conditions Lyme disease can imitate with aplomb. As Emma didn’t recall a tick bite or any tick encounters, her Lyme disease diagnosis came as a surprise, but why the assumption that her Lyme infection began during the narrow window after her MS diagnosis but before her arthritis and dermatitis diagnoses? Why not before all three? Statistically, it not only makes logical sense, but it’s also downright likely. Scandinavia, Sweden in particular, is a haven for ticks. More than 60% of adults report being bitten at least 1-5 times—kids are even more likely to be bitten—and a sweeping new 2022 study found, incredibly, that 1 in 5 Europeans have antibodies to Lyme disease.
One year after being treated with three weeks of doxycycline, the study’s authors reported that Emma no longer had issues with arthritis or dermatitis, which the antibiotic is perfectly suited to attack. But did that fully vanquish her Lyme? That’s highly suspect. She still had minor swelling in her leg, and the kind of Lyme that mirrors MS—Lyme encephalomyelitis—requires more aggressive treatment in the form of IV antibiotics. But to call into question Emma’s original (presumably negative) Lyme disease test when she was first diagnosed with MS—and therefore not yet compromised by B-cell-depleting drugs, in theory affecting the results—would throw asunder Dr. Sjöwall’s leading hypothesis.
By all accounts, Emma is still wearing her original diagnosis of multiple sclerosis. And any lingering alarm of faulty tests has no doubt since been buried deeply in the annals of curious case studies, any remnants of a smoking gun warehoused next to the Arc of the Covenant and the Holy Grail.
No, a lone report on a chance discovery, one exposing a flawed test in a single patient, won’t cause neurologists to adjust their reading glasses. Nor will a smattering of concerning, but in no way conclusive, stories from patients suffering neurological symptoms after crossing paths with ticks. But critically, successfully unearthing any medical mystery must begin with a single, inauspicious turn of a shovel.
I turned that first shovel full. Now to keep digging.
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