We all fear powerlessness. It’s part of being human. We’re terrified at the thought of having to watch a tragedy unfold, or a threat develop without being able to do anything against it. But this is the reality that victims of ALS, amyotrophic lateral sclerosis, face every day in their own bodies.
ALS is a neurodegenerative disease, meaning it breaks down the neurons in the brain. This is especially damaging because unlike other cells, neurons can’t be healed or replaced. If it’s gone, it’s gone. Symptoms begin with muscle weakness and difficulty with basic tasks like buttoning a shirt or writing your name. From here, the life expectancy dwindles to three to five years. Muscle systems slowly start to fail, and patients can no longer control their own bodies. Eventually, the lungs themselves stop working, and patients usually die of asphyxiation. The scientific community knows very little about ALS. Not only do we not know how to fight it, but we don’t know why we have to. There is no known cause or cure. But that doesn’t mean there is no hope.
If you had any kind of social media in the summer of 2014, you may have found yourself pouring a bucket of ice water on your head in the name of the ALS Ice Bucket Challenge. What started as a viral game became a huge contributor to the cause of ALS awareness. It ended up raising over $115 million dollars for research. And research is definitely happening. There are infinite numbers of leads being explored, but the one I want to explain is happening right now at Trinity College Dublin in Ireland. Researchers here conducted a massive study that analyzed the genetic profiles of over 13,000 ALS cases and over 30,000 schizophrenia cases. What they found out was that ALS and schizophrenia share a common genetic origin- with a genetic overlap of 14 percent. This is a huge deal for a lot of reasons.
First of all, the line between psychiatric and physical disorders is a very blurry one. Scientists today agree that the mind and the brain are connected in biological ways, and mental illnesses are being treated more and more with physical medications and treatments, in addition to therapy. The link between ALS and schizophrenia means that a very mental and a very physical disease are connected somehow, which narrows the mind-brain gap even further.
Secondly, it changes the way we view ALS itself. Previously, scientists considered ALS to be a problem with individual neurons that were being damaged and killed. This study introduces the idea that ALS is actually a problem with neural networks and the connections between them. If that’s the case, treatments and medications that were never considered before can now be in the spotlight.
Most excitingly, this has led to the testing of a new medication for ALS. Pimozide is a drug that has been used to treat schizophrenic patients for fifty years. Studies at a Canadian university and medical school show that pimozide can stabilize the progress of neurodegeneration in lab animals that were modified to show human symptoms of ALS. They began by experimenting in flatworms and zebrafish, and over six years, progressed to mice. Pimozide consistently preserved the function of the neuromuscular junction, which is the connection between a neuron and a muscle fiber that ALS attacks. Because this drug has already been approved for human use in schizophrenics, tests on ALS patients can move forward rapidly. A preliminary test of this drug was actually done in 2015, and it showed that the thenal muscles, which are between the thumb and the forefinger, and are usually one of the first to degenerate through ALS, were preserved. The damage didn’t increase. We don’t yet know if Pimozide pauses, slows, or cures ALS. But a more comprehensive study, actually funded directly by the Ice Bucket Challenge, is scheduled for this year.
With developments like this one and the passion of researchers around the world, ALS won’t remain hopeless for long. Though the disease strikes victims powerless, we are learning how to fight it, and it’s a battle we eventually will win.
