Life and Death with ALS

Life and Death with ALS

She lifts her leg to step into the minivan, and is surprised to find herself falling backwards moments later. Her family hurries to lift her up, and everyone fusses and worries about the bump now growing on the back of her head. No one pays any particular attention to how she ended up falling in the first place - she is an elderly woman, it happens. But she is confused. She is sure that she lifted her leg high enough to get into the car. After all, she has done this many times before. She told her foot to lift, so why didn't it listen?

Three years and many symptoms later, she finally gets her answer when she is diagnosed with Amyotrophic Lateral Sclerosis, or ALS. "Diagnosed" is a bit misleading, since there is no definitive diagnostic test for this destructive and unstoppable disease. ALS is particularly difficult to diagnose in the early stages, when there are virtually no visible symptoms. Not that it would do her any good - there is no cure and no effective treatment. Maybe it's even a good thing that she didn't find out sooner. At least, she has enjoyed her life to the extent that she could, given her increasing number of symptoms leading up to the diagnosis, without concerning herself with the horrifying details of the inevitable end.

ALS is fatal, the diagnosis is terminal. She and her loved ones live with the persistent feeling of helplessness. ALS is a rare disease, affecting only 1 or 2 in 100,000 adults worldwide, and yet here she is. Just like 90% of the people that develop ALS, in her case the disease is acquired, or sporadic. Only 10% of the ALS patients inherit the familial form of the disorder. For her, and the majority of people living with the disease, there is no known cause, no explanation, no discernible reason for their suffering. No cause-and-effect link has been established between any environmental toxins or infections and the development of ALS. In other words, there is nothing she could have to done to prevent ALS from destroying her body.

ALS is a disease of motor neurons, which degenerate and die over time. Motor neurons are cells that reside in the brain, brain stem, and spinal cord, and they control voluntary movement of the muscles. Damage to the motor neurons results in muscle weakness, which eventually develops into total paralysis and, finally, death. By the time she notices muscle weakness for the first time, the disease is already well underway. Up to 80% of the motor neurons could have died before any weakness is detected.

Ever since the first time she falls, she begins to slowly lose control of her body. At first, it's only her right leg that refuses to cooperate. She occasionally uses a cane to help herself get around. Several months later, she becomes fully dependent on her cane. During the holidays, her family buys tickets to a Broadway show, and it is only after they arrive to the theater that they find out that the building is so old, it does not have an elevator. She braves the steep stairs, one step at a time, holding on to the railing with one hand and the cane with the other. Crowds of theater goers rush past her, and she is embarrassed to be seen in public this way. Pretty soon, she will no longer leave the house, unable to face the looks of pity at her decaying body that houses a strong, independent, and fully-aware mind.

It is expensive to live with ALS, and every couple of months, her family purchases thousands of dollars worth of equipment in an effort to keep her discomfort to a minimum. But really, they are always playing catch-up. When her right arm begins to develop weakness, the cane is no longer enough to keep her mobile. She starts using her new walker, only to abandon it two months later when it becomes too cumbersome for her to hold on to. The walker keeps rolling away from her, and she keeps falling, unable to get up on her own. She is frustrated to tears with her helplessness while she waits for someone to come and pick her up off the floor. A fancier, more expensive walker is purchased, and it helps for a short while. There is a walker on every floor of the house, but she can no longer climb the stairs. A stair lift is installed, doors are removed, new doorways are created, ramps are put in place. The house resembles a medical center, but it's no use. Soon, she finds it difficult to even get to the stair lift. Eight months after her diagnosis, her family sets up the Thanksgiving table on the first floor, where she sleeps, because she cannot make it to the dining room upstairs.

For as long as she can, she holds on to her dignity. Even after the cane is abandoned for a walker, she continues to go to the bathroom on her own. Soon, the bathroom needs modifications: a high seat is installed to make it easier for her to get up from it, grab bars are installed near the toilet to hold on to. Eventually, the door is removed and replaced with a curtain to allow a wheelchair to pass through. When the walker is replaced by the wheelchair, her dignity goes with it as she becomes fully dependent on her family to perform the simplest of tasks. Someone has to help her brush her teeth, use the bathroom, bring the fork to her mouth when she is hungry. Her right hand becomes useless, and she tries to learn how to do everything with her left hand, but it quickly weakens as well. Her coffee and Italian bread-with-butter breakfast that she used to enjoy so much becomes a torturous routine.

As ALS takes over her muscles, I learn about what is going on inside her body, hoping to understand, to explain it to myself, even if I can do nothing to stop it. The degenerating motor neurons that are responsible for voluntary muscle movements are actually subdivided into two types, the upper motor neurons and the lower motor neurons, and they have different jobs to do. The upper motor neurons reside in the brain, the motor cortex region, and they send out signals via axons (nerve fibers) to the lower motor neurons. The lower motor neurons are located in the brain stem and the spinal cord. While the upper motor neurons are involved in the initiation of the voluntary movements, it is the lower motor neurons that connect, or synapse, with the actual muscles in the face, pharynx, chest and limbs. The lower motor neurons directly control the muscle contractions, allowing us to swallow, breathe, and walk. The upper motor neurons are involved in the maintenance of muscle tone, and when they are damaged, limbs become spastic and reflexes are exaggerated. When the lower motor neurons degenerate, muscles become weak and wasted, and reflexes may disappear altogether.

ALS nerve degeneration
Nerve degeneration due to ALS. Image scanned from this book on ALS.

To understand why so much time passes between the initial death of neurons and the diagnosis of ALS, it's useful to know how the motor neurons connect to the muscles. Each skeletal muscle, such as a hamstring or a bicep, consists of many individual muscle fibers, and each lower motor neuron in the spinal cord controls a number of these fibers. Large muscles, like in the trunk or the calf, could have one motor neuron connecting to over 1,000 fibers. In smaller muscles, like in the hand, one motor neuron could connect to about 100 fibers, which allows for the fine control necessary to perform small, delicate tasks, like holding a spoon or writing with a pen. The motor neuron connects to the muscle fibers through an axon (a nerve fiber), which branches extensively after it enters the muscle. Each nerve fiber branch is connected to and activates only a single muscle fiber. The group of muscle fibers that are controlled by one motor neuron is called a motor unit. The interesting thing is that the muscle fibers in one motor unit are not necessarily located next to each other in the muscle, and instead are grouped in such a way that each motor neuron has axon branches that reach out to many different locations in the muscle. When a motor neuron is damaged, as it happens during ALS, the nerve fibers that emerge from that motor neuron cannot control the muscle fibers that it connects to, and the muscle fibers shrink and stop contracting. If the nearby motor neurons are still healthy, they can regenerate new branches on the existing nerve fibers and form new connections with the affected muscle fibers. As long as this keeps happening, muscles can remain strong and retain their ability to contract. Because muscle weakness is not noticeable at this point, ALS can remain undiagnosed for years.

The doctors tell her that the disease is progressing slowly in her case, but I have to wonder what they mean by "slowly" because every time I see her, the rate of her disease progression accelerates. She does not seem to lose much weight at first, but as months go by, the pounds keep shedding. A year after her diagnosis, there is only half of her left. This is not the good kind of weight loss, she is losing muscle as she becomes more and more confined to the adjustable bed and the lift armchair, two of the latest ALS-related purchases.

Things take a turn for the worse when her breathing becomes more labored and swallowing becomes more difficult. Ingesting food becomes an ordeal, and the possibility of choking increases, as her diaphragm muscle weakens and she is unable to cough up the food that goes down the wrong pipe, which it inevitably does because her muscles responsible for swallowing have weakened as well. She now has a special apparatus that helps her clear the throat, but it cannot be used while she is eating food, so it is of limited use. Swallowing medication becomes increasingly hard as well. She loses more weight.

Meanwhile, her mind remains sharp. But she cannot do much with it, as she cannot read books because she can't hold them up. She cannot solve crossword and sudoku puzzles like she used to because she can't hold a pencil in her hand. So she resorts to watching mindless television, which irritates her. She spends increasingly more time sleeping as tasks that used to be simple, like eating, tire her out. She browses through photo albums, with assistance of course, turning her mind to happier days. She asks to look at photos of the wedding she never got to attend, reliving memories she never got to experience.

Less than a year and a half after the diagnosis, she stops eating altogether. For four weeks, she ingests almost nothing but water, which she sips through a straw. In most ALS cases, death occurs from respiratory failure, when the diaphragm can no longer maintain adequate ventilation and breathing becomes impossible. Mercifully, she does not reach this stage of the disease - her heart gives out first. She gasps for breath and whispers her last wish. Her eyes close, her head falls slightly to the left, and two small tears roll down her cheeks as she enters an eternal sleep.


If you would like to learn more about life with ALS, I recommend these books:

- "I Remember Running: The Year I Got Everything I Ever Wanted-and ALS" by Darcy Wakefield
- "Amyotrophic Lateral Sclerosis: A Guide for Patients and Families" by Dr. Hiroshi Mitsumoto

ALS is so rare that it is called an "orphan" disease. Unfortunately, this means that there are very limited resources being allocated to research that is necessary to understand the mechanism of ALS and to find the cure for this devastating disease. If you would like to learn more about the current state of ALS-related research, or donate to the research efforts, please visit the following links:

- MDA/ALS newsmagazine
- MDA's ALS division
- Prize4Life
- ALS Therapy Development Institute


  1. This was beautifully written - a wonderful mix of personal and educational.

    Have you read Still Alice or Left Neglected by Alice Genova? This post reminded me a lot of those books, both of which I love, especially Still Alice. It is a very human look at the progression of Alzheimer's - highly recommended.

    1. Thank you, Nina. Your words mean a lot to me.

      I have read Still Alice, and I loved it. I thought it was so well written, and from a unique perspective. I haven't read Left Neglected though.

  2. Oh Anna,
    Thank you for sharing so much. This is truly a beautiful homage to your grandmother.
    I'm very proud of you.

  3. Thank you for sharing your story, Anna. I hope to put my thoughts and feelings into words soon as well...You are inspiring:-).

    1. Thank you for reading, Christine! I look forward to reading your story as well.


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