My father-in-law, Lyle, used to run in the mornings. He'd take a two- to three-mile loop near his home in Whitefish Bay, Wisconsin. "I began to notice that my right foot did not function properly. And it felt like… like I had a flat," he tells me on the phone. "In retrospect, that was probably a first indicator of problems that were emerging."
This was 15 years ago. Since then, Lyle has had several surgeries to remove necrotic tissue in his legs and feet. He lost three toes in total before ultimately having his left leg amputated below the knee late last year, with no warning beyond a vague feeling of being unwell. He's only just now preparing to receive a permanent prosthesis to replace the limb he lost after hobbling around on temporary ones.
Nobody seems to know why this happened.
From the infections, to the various amputations, it's been one slightly puzzled diagnosis after the next as doctor after doctor seemed unable provide an adequate explanation. Even the latest answer is only a few weeks old, and it's unclear whether it will stand the scrutiny of time.
The first time I see him after the leg amputation, he's all smiles and laughter in his hospital bed. He's apparently been asking the nurses if they saved his leg, and whether he can have it when everything's said and done. The nurses haven't taken it seriously. He cracks jokes about his obvious weight loss and how "at least 10 pounds of that were leg."
It's a little macabre, and I can tell it's making his wife nervous. She laughs when he laughs, but it's strained.
When I ask why he'd want the leg now that it's been removed, he says that he'd like to send it to his brother in Texas. He says this a couple different times as new people enter the room as if to test out this morbid suggestion as a kind of experiment. Nobody's thrilled.
After a lecture tour in Australia 15 years ago, Lyle returned with a bad infection in his left leg. Bad enough that a surgeon ended up having to excise necrotic tissue. After that, some sense of normalcy returned, but it wasn't to last.
When things started to get bad again around six years ago, Lyle called up the same surgeon. He'd had trouble with his feet off and on intermittently since the surgery, but things were worse than ever. The original infection—or one very similar to it—had returned.
Other than the infection and resulting necrosis, there seemed to be no major symptoms to tie back to, well, anything. It's hard to say whether battling this off and on made any discerning of original symptoms against complications of old ones murky, but there was certainly no clear path forward.
Internal medicine folks suggested handling these things internally, endocrinologists suspected hormone imbalances, and so on. Each doctor seemed to see in my father-in-law a mystery only capable of being solved by their field. This is where the first mention of "diabetes" crept into the conversation, and it wouldn't be the last.
Diabetes was a reasonable guess. One of the many possible complications from diabetes, if left untreated, is nerve damage. Over time, "[e]xcess sugar can injure the walls of the tiny blood vessels (capillaries) that nourish your nerves, especially in your legs."
The general term for this is neuropathy, and neuropathy means that damage caused to the legs and feet—like cuts and blisters—can quickly escalate into infections requiring amputation. Given his poor diet, weight (at the time, well over 200 pounds), and history of infections, it must have sounded—in a textbook example of anchoring bias, meaning that the first and most prevalent symptom influenced the judgment of the problem as a whole—an awful lot like everything traced back to diabetes.
"They were diabetes blind."
Except everything else about his medical issues never really lined up with diabetes. Of the litany of symptoms that can present, he only ever seemingly had the nerve damage. If it were diabetes, his blood flow to his extremities should have been poor—that's what ends up causing the nerve damage described above—and it wasn't. In fact, according to Lyle, the doctors more than once remarked that the blood flow to his legs was incredibly good.
A blood sugar reading here or there would spike from time to time, but those can vary from one sample to the next. A test that indicated diabetes would suddenly not when they performed it again. Even so, the necrosis in his legs always came back to being a complication of diabetes. It was the best hypothesis the doctors had, so they pushed it.
Once we're back at the house, it quickly becomes apparent that the second story is going to be trouble. While Lyle was in the hospital, his wife had a local handyman install a series of bars to help him navigate the tricky parts. They sleep on the second floor, so that's the big hurdle, but there's steps from the living room where they watch television into the dining room, and there's steps to get into the house from outside. All these have railings by the time we get there, and he shuffles around fairly well on a walker.
In addition to being a professor at a local university, Lyle serves as a pastor for a church. He's taken a sabbatical from both in the aftermath of his surgery. He had an office in the basement filled to the brim with books, but those stairs are too cramped to realistically fit in a decent railing that could hold his weight, so they've cleared it out instead.
When he does eventually tackle the stairs to the second story, he alternates between using the railings and sliding across the ground on his butt, lifting to the next step, and sliding again, grunting with effort.
"They were diabetes blind." Six years later, he's still mad. "The whole hospital system is predicated on the notion or that image of who their patient is, and if you're not that… they don't know what to do with you. They try to squeeze you in that box, and, for me, the way they squeezed me in the box was to say, 'This must be diabetes.'" My father-in-law refused to accept that he had diabetes. His doctor would say, "This must be diabetes," and Lyle would say, "No, that just isn't true."
He wasted a year struggling like this, back and forth with his doctor and his doctor's graduate students—a group that Lyle disparagingly refers to as "baby docs" whenever they come up in conversation. Apart from the necrosis and the occasional set of numbers that aligned correctly, there were no other indications of diabetes.
"He ignored my symptoms, ignored the fact that when he did deign to finally give me an antibiotic instead of trying to modify my diet, I got better," Lyle told me. After a particularly frustrating discussion where his doctor stated a number of things were true that were not, my father-in-law swore he wouldn't go back. He didn't.
Two years after initially returning to the doctor that became hung up on diabetes, Lyle found a new one: a surgeon, actually, who specialized in ankle and foot problems. At this point, things had reached a boiling point. The ankle and foot surgeon took one look and immediately sent my father-in-law to the hospital. "Because [my previous doctor] ignored the infection, it had become so serious that I immediately lost three toes."
Both big toes were removed in this sudden operation. In case you weren't aware, your big toes are fairly important when it comes to balance. For example, a 2009 Taiwanese study concluded that maintaining directional control while shifting your weight around is particularly difficult with a "constrained" or otherwise inhibited big toe in addition to making standing on a single leg significantly harder. The details of the study go a bit further, but the takeaway here is that the big toe is a significant factor when it comes to balance. Losing one can be a problem, losing both is a big issue.
Following the toe amputations, Lyle describes the intervening years between then and the leg amputation as a lengthy fight he could never win. Ultimately, it was a war of attrition, and he regularly found himself losing. "It closes you in a kind of cave. And you just, all you can do is cope with the illness," he tells me. "You can summon up the energy and the focus to deal with the things that you have to deal with—or at least enough of them—but apart from that nothing. Apart from that, you're in the cave."
During our stay in Wisconsin after Lyle's leg amputation, there's a general feeling of "what next" in the air. Part of this is due to the fact that the amputation came as part of a regular checkup that quickly went south, but another part is due to a warning that, should the infection return, they may have to amputate above the knee. Thanks to the powerful muscles in your legs, amputating above the knee is a whole different ball of wax. To begin with, losing that joint makes it more difficult when it comes to prosthetics.
He remains optimistic about it all. This is thrown into stark contrast when he later takes a tumble and pops several staples keeping his stump closed. They reseal things, and give him a localized vacuum that applies constant suction to the area to speed up the healing process. Over time, he recuperates.
After spending over a decade fighting one infection after another, nobody seems to have a definitive answer for why. Why the infections started, why they continued to crop up time and time again, and whether they will return to ravage what's left. "It just frankly feels like I lost a big chunk of my life there tied up in all of the infections and the surgeries and the horrible antibiotics they used to try and treat this," Lyle told me. Treatment didn't sit well with him.
"Hereditary neuropathy is probably underdiagnosed and misdiagnosed."
As the doctors tried to treat the underlying infection, my father-in-law was put on a number of different antibiotics in quick succession. Only one ever seemed to have an effect, and so they came back to it repeatedly. Unfortunately, it also had its share of side effects: horrible joint pains, exhaustion, and stomach and digestion problems. "In terms of just pain and being… just put flat on my back, that antibiotic was just about as bad, or worse, than the infection itself."
The current official diagnosis is genetic peripheral neuropathy. This latest theory comes courtesy of the Mayo Clinic in Rochester, Minnesota, and it sounds plausible. Lyle's been told that the kind he has is very uncommon. In fact, his doctor wants to include him in a clinical study that's being conducted with patients that have exhibited similar problems that are believed to be tied back to genetic peripheral neuropathy.
"Hereditary neuropathy is probably underdiagnosed and misdiagnosed," Dr. Bonnie Gerecke, chief of neurology at Mercy Medical Center in Baltimore, tells me via email. "Charcot Marie Tooth disease, also known as hereditary neuropathy, has an incidence of 1:2500 in the United States."
When asked whether early diagnosis could potentially prevent amputation down the line, Dr. Gerecke is clear that the relationship between the two is not always that cut and dry. "The earlier the diagnosis, the more a patient can benefit from supportive care," she says. "This includes bracing of the feet and sometimes surgical procedures in the feet when there are joint deformities. Another benefit of early diagnosis is that it prevents unnecessary testing and potentially treatments that are not indicated."
"It would seem from all the tests that I have an inherited condition in which the nerves in my feet and lower legs and, perhaps, in my hands are just slowly ceasing to function," Lyle says. He's a bit resigned about it all at this point, though it's only been several weeks since first hearing it. "And as that happens, you injure yourself in ways that you're not aware of. And that causes the openings for the infection. It also prevents your body from properly responding to those infections."
The idea is that his sensory nerves in his extremities—like his hands and feet—don't properly register pain like healthy nerves would—and it's genetic, not something brought on by diabetes. Under this diagnosis, he quite literally doesn't feel injuries the way you or I might. "I was a jock growing up, and thinking back, one of the things that characterized my athletic endeavors was that I could just stand more pain than other people. And I used that to my advantage." He played basketball in California during high school, and recalls being smaller than any other center he played against. That didn't stop him from using as much, if not more, force. "Without being aware of what I was doing, I was damaging myself."
These days, Lyle's doing better. The whole reason they went to the Mayo Clinic for answers was that he was in better health than he'd been in for five or six years—since the toe amputations, at least. But there's nothing to be done if it's really, truly genetic peripheral neuropathy. There's no cure, and it's unclear whether it's something he might have passed on to one of his three daughters. "Be mindful of things" is more or less the treatment plan.
"Obviously, I wish that they had a magic bullet," he says. "I wish at least that I had a sense that they really understood what had occurred, and how to deal with it. I wish that that was the case, but that's not the case."
"What do you come away with after all this, then?"
He pauses a moment.
"You've got to be the subject and not the object of your hospitalization," he tells me. "Doctors take it upon themselves just to make decisions for you, or to present you with things as if these are just decisions that have been made, and you really have not been consulted."
"You're just an object upon which they are acting. You might as well be a cadaver."
All images by Sharon De La Cruz for Motherboard.
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