“Nothing else looks like this. I’m sorry, ALS is the only disease that does this.”
That’s what I said when trying to convince my patient’s husband. The three of us were like motionless statues amidst the hospital ward bustling around us, her lying immobile in bed inside, her husband and I standing outside disagreeing amicably for hours. We were arguing about her “equivocal diagnosis of ALS.” Fighting on one side was his staunch denial and his faith that there could be some overlooked alternative diagnosis. Battling it was us as their medical team and our scientific certainty that this was truly ALS.
I know you’ve heard of the disease. ALS, or amyotrophic lateral sclerosis, or Lou Gehrig’s Disease. I like calling it Stephen Hawking’s disease. You know, the one with the Ice Bucket Challenge in 2014. And seriously, no other disease looks quite like it.
Well, true, it’s a little confusing at the beginning when just a single weak limb can resemble anything. The husband kept clinging onto how the initial EMG findings 4 years prior weren’t even suggestive of ALS. When the weakness spread to the contralateral limb 3 years ago, the first neurologist only suspected ALS but couldn’t be sure, and the husband latched onto that uncertainty. When her legs went, the three next neurologists that they flew all around the country to visit all said it was ALS, sure, but they all willing to explore alternative diagnoses: myasthenia gravis, or peripheral neuropathy, or Guillain Barre. As she became effectively immobile, the next few neurologists ruled out those diagnoses though and confirmed ALS, remember?
Don’t perseverate on the tiny doubts of the past. Consider what’s evident now. Take a step back and look at what’s happened in the past four years: selective unrelenting motor degeneration that has left your wife almost completely paralyzed, trach’d, vent dependent, and PEG’d. Your wife has classic ALS: every symptom in the right order and — unfortunately — right on time. Nothing else does this.
During our conversation, I tried to let my sympathy shine through. Still, as I listened to his thorough but biased story, I pointed out his tendency to only consider favorable details. Halfway through, while picking apart his defenses as gently as I could, he stopped me, smiled, and replied “ahh, I see what you’re doing. A lot of people have told me in the past that I’m in denial. And I am! I just can’t accept the diagnosis.” He didn’t get angry. He nodded and understood, but he just willfully refused to listen. To me, to my medical team, to the many neurologists they’ve seen recently. He told me, “as long as there’s even a sliver of hope, we have to grasp at it, right? She’s a fighter, and we have to keep fighting alongside her.”
I wanted to disagree, but that sentiment was difficult to contradict. For four years he’s helplessly watched his wife’s inexorable degeneration, and at every point he’s done his best to combat every iota of decline. Even though her progression has never once relented, every moment is a new battle to fight, each step back is another bulwark to try holding back the tide. At each stage he hopes beyond hope that, if he tries hard enough, maybe here the disease will cease and she can return.
But you can’t fight ALS. ALS is unrelenting, untreatable, with a linear decline to death in 3-5 years. So you’ve decided to fight the diagnosis. And, by proxy, fight us.
He kept on referring to ALS as “the diagnosis” or even “that damn acronym looming over our heads.” That refusal to acknowledge the disease’s name puts it out of mind, and denial is an immature defense mechanism (the actual scientific term, btw). As a result, he’s toted his wife around the country — including by helicopter ambulance — to neurologist specialists who have all confirmed unequivocal ALS. Even her he’s requested workup for increasingly desperate alternative diagnoses that make no sense. We’ve refused to perform needless tests, which has gotten him upset, but really, we’re trying to help. We’re managing her pain and discomfort, coordinating long-term healthcare plans back near their home, and trying to prepare him for the most valuable intervention yet.
“Goals of care discussion.” That’s what we call it. We sit down with patient and family in a quiet amicable place and talk about what to expect in coming days and months. We talk about prognosis, what dying will look like. We ask what is most important to them to preserve in tough times. We work together to ensure that those priorities are addressed. We set limits of treatment in unexpected bad situations. It’s a tough conversation and something that most doctors are never taught; I sure wouldn’t know how to direct a conversation like this. However, it’s also a necessary conversation that, unfortunately, most modern Americans are never quite ready to have until the very, very end.
And the husband so not ready. ALS is a torturous disease for everyone involved, but none of us can imagine how the patient or her husband have suffered for three years. She’s going to die from ALS, she’s going to die soon, it’s going to be ugly, and he should acknowledge that. But that first barrier of denial — fueled by endless love and bottomless fear — feels indomitable.
The husband and I both stepped in to see his wife. She’s trach’d, PEG’d, cachectic with shrunken muscles and askew joints. She communicates using an odd combination of a subtle “thumbs up” for yes, a weak shaking head for no, and increasingly illegible scrawls on a whiteboard using her uncontrollable right hand. Her extraocular muscles are intact but her facial muscles barely work anymore, the result being that she stares straight into your eyes and contorts her face into broken facsimiles of facial expressions. She still retains a wide genuine smile complete with crinkles beside her eye and curling lips, but it just doesn’t look quite right. She can’t nod, but raising her brows a certain way somehow still looks like yes. Shaking her head no is accompanied by a characteristic upward creasing of her medial eyebrows. She draws her cheeks laterally and wrinkles her forehead in this expression that’s a cross between frustrated, pained, and pleading. That’s the face we see the most. That’s the face of a cognitively intact mind trapped in a virtually paralyzed body, and it’s so, so sad.
Yes, that’s ALS. Nothing else looks like it.