Amyotrophic Lateral Sclerosis (ALS) is a terminal illness of the nervous system, resulting in the degeneration of neurons. When the motor neurons in the lateral spinal cord degenerate, the muscle cannot be stimulated and gradually atrophies. As the disease progresses, the brain cannot initiate and control muscle movement, so voluntary muscle actions, such as reaching for your phone or typing on a keyboard, are lost. Currently there are no treatments or cures to reverse the effects of ALS and the disease process is still widely unknown. Some noteworthy individuals diagnosed with this disease have included Lou Gehrig, Stephen Hawking, Jon Stone, George Yardley, Henry A. Wallace, and Steve Gleason. These are the facts, but I could have never realized what living with ALS was like until I listened to a retired senior, a teacher, and a musician tell me their stories.
The older couple told us of their past year as the husband wrote on an electronic note pad to fill in the gaps of his spouse’s version of their story. They had first noticed his symptoms when he began choking on his food, and they had to adapt as the disease progression got more and more severe. His wife comically said that she doesn’t know where to look when he’s trying to talk to her – “Should I look at his eyes, his mouth, this pad?” Every day, they had to face a new challenge and overcome it together, as a family.
Another patient was a mother, a teacher, now wheelchair bound and with a respirator to help her breathe. Because of her age, none of her physicians expected ALS and thought she was struggling from carpal tunnel syndrome or an ulnar nerve injury. She told us her husband was her biggest caregiver and supporter; her husband joked, “She makes the list and I carry it out.” He talked about his struggles, working full time as well as being a full-time caregiver for his wife and their 3-year-old daughter, as well as still finding time for self-care. Even with all this juggling, he felt guilty. This guilt was expressed by many of the caregivers: some because they didn’t even notice the symptoms and others because they felt like they couldn’t help their spouses. Guilt was felt by the patients too. The mother was upset because her daughter would only remember her in a wheelchair. Despite the difficulties, family was a major support system for each patient.
When asked about how she felt after getting her diagnosis, the musician said, “I felt like a deer in headlights… I never pictured I was going to go out that way… with a terminal illness… Last year I had no trouble walking, singing, cooking, gardening, and this year…” Despite all of this, she said she felt relieved. Her struggle to find a neurologist who respected her was heartbreaking. She had gone to a physician because she felt helpless; she was having trouble playing guitar, she was losing her identity as a musician. However, the physician assumed from her past medical history of anxiety that she was having mental issues with memory, anxiety, and depression. As she continued to receive hostile treatment, she found a second doctor who listened to her. Unfortunately, even though he took her seriously, he didn’t have the courage to diagnose her with ALS, telling her instead that she had a motor neuron disease and referring her to a specialist. When she finally received the diagnosis of ALS, she was relieved. She no longer felt crazy. She was able to be heard. She was able to communicate with someone who wanted to help her. ALS is already a hard disease to diagnose; not having someone on her side only made her situation more difficult. She says now, as each symptom appears, she isn’t afraid anymore, because she knows it’s ALS. This relief of having a concrete diagnosis, of having a diagnosable disease, even one that is untreatable, was reiterated by several of the other panelists.
Although a diagnosis was a relief for many of the patients, they all saw the importance of taking part in clinical trials. They recognized that ALS affects everyone at different times in different ways and hoped that one day they could explain why this illness is so hard to detect and track. Participating in various studies and trials made them feel like they were helping future patients and physicians to be able to better understand why this terminal disease can strike at any time, with no discernable warning signs, affecting each individual uniquely in initial symptoms and progression.
Getting a concrete diagnosis gave these patients the freedom to seize the day and live in the moment. For the musician, as her ability to play guitar diminished chord by chord, and she started slurring her words, preserving her voice and her identity became very important to her. She is using a message banking app to preserve her voice. The software requires her to read thousands of words and sentences. Although she had to accept the things she could no longer do, she realized that she did not have to give up her identity or love of music because of ALS. Overflowing with her love of music, she told us about how when choirs sings together, their hearts become synchronized; and how music lowers blood pressure and stimulates all areas of the brain. As she interwove details about her symptoms with her favorite song, Fire on the Mountain by the Grateful Dead, the two had become part of the same spiritual transformation. Smiling peacefully, she explained, “Maybe nobody else hears it the way I do. I see death as the final healing, finally being released from your body.” She viewed her diagnosis as graduating early and the symptoms that came attached with it as her disappearing slowly, rather than all at once. The unavoidable indignities were just something she had to accept. What mattered most to her was keeping her individual personality in the face of intense daily struggles.
By the end of our discussion, I felt the weight of my white coat as I never had before and recognized that this would be the first of many times that I would have to carry this symbol of patient advocacy. As these patients spilled all their vulnerabilities to a group of 50 students, I realized the most important thing I will learn in medical school is opening my heart without getting crushed under negativity. I learned that, as doctors, we have the tendency to think the ultimate solution is life, when in truth, mortality is the reality. What matters is being present when there is a fire, realizing that “a pail of water” may not be enough to put it out, but continuing to carry that water for your patient.
Long distance runner, what you standin there for?
Get up, get out, get out of the door
There's a dragon with matches that's loose on the town
Takes a whole pail of water just to cool him down
-The Grateful Dead