The majority of people first come across the term ALS through a well-known name, just like they do with the majority of rare diseases. First baseman Lou Gehrig of the New York Yankees retired from baseball in 1939 after his body began to betray him in ways that no one could figure out. In two years, he passed away. The fact that physicist Stephen Hawking endured the same illness for over 50 years decades later tells you something crucial right away: ALS does not have a set course.
A disorder of the nervous system, amyotrophic lateral sclerosis primarily affects motor neurons, which are the cells that transmit signals from the brain to the muscles that allow a person to walk, speak, swallow, and breathe. The muscles that those neurons once controlled stop getting instructions when they begin to die. They become weaker. They squander away. The thing that makes ALS so unsettling to read about, let alone deal with, is that once it starts, it cannot be stopped.
Usually, it starts out small. A hand feels more awkward than it ought to. When walking, a foot drags a little. The person’s speech becomes somewhat slurred, as if they’ve had too many drinks, even though they haven’t had any. Stress, exhaustion, and aging are what doctors refer to as the “early stage,” which patients frequently ignore. Something more serious doesn’t appear likely until the weakness spreads, frequently from one limb to the next.
What makes ALS unique and sets it apart from many other terminal illnesses is what it doesn’t affect. In general, the mind remains sharp. Taste, touch, and hearing are all still present. While their bodies gradually cease reacting, people are still able to think clearly and feel everything around them. Although doctors seldom put it so bluntly, there is a certain cruelty in that arrangement.
For the most part, researchers are still unable to pinpoint the exact cause of ALS. Familial ALS is a condition in which about 10% of patients receive a gene associated with the illness from a parent. Smoking, some environmental pollutants, and military service have all been repeatedly identified in studies as potential risk factors, but the remaining 90% fall into a category that researchers are still unable to explain. By themselves, none of them can adequately explain why some people develop ALS while others do not.
Diagnosis is a slow process in and of itself. ALS cannot be definitively confirmed by a single blood test or scan. Instead, before arriving, frequently months later, at a diagnosis that no one wanted to hear, neurologists use a process of elimination that includes nerve conduction studies, electromyography, blood work, and occasionally a spinal tap to rule out other conditions that mimic similar symptoms.
Although alarming, the survival statistics are not definitive. After being diagnosed, most people live for two to five years. Roughly 25% of people live for five years or more, and only about 10% survive for ten years. Although doctors are quick to point out that Hawking’s case shouldn’t be treated as the norm, it continues to be the outlier that most people point to.
For decades, there has been no significant change to the fact that there is no cure. Riluzole and edaravone, two FDA-approved medications, can somewhat slow progression but do not halt it. According to recent research, multidisciplinary care—physical therapists, speech specialists, nutritionists, and breathing support working together to extend survival and quality of life—seems to matter more. It’s not nothing, but it’s also not a cure.
Clinical trials are ongoing all over the world, and scientists feel that the next big discovery, whatever it may be, is still a ways off. For the time being, ALS is still what it has been for many generations: a disease that destroys the body while leaving the mind completely conscious of its condition.
