Soldiering On: My Brother’s Battle with ALS
Knowing a person with a rare disease changed my perspective about the important work scientists do to prevent them
My first encounter with ALS was during my studies at the University of Zurich. A neuroscientist by training, I learned a lot about conditions like Alzheimer`s, Parkinson’s, Duchenne muscular dystrophy and amyotrophic lateral sclerosis (ALS), though my primary focus was spinal injuries. I had dedicated my career to understanding the underlying mechanisms that prevented regeneration of nerve cells following an injury to the central nervous system. We hoped that by understanding what caused the paralysis we could one day develop therapies to reverse this condition. This universal wish to contribute to the discovery of a potential cure for CNS disorders has stayed with me, though I am now supporting scientists and their research in a different way.
My awareness of ALS grew in 2014 when the “Ice bucket Challenge” was launched. It was difficult to escape the thousands of videos, flooding social media, of people being doused with ice cold
water, all in the name of ALS research. The campaign ultimately raised US$115 million.
Then, in 2018, my brother Ralf was diagnosed with ALS, and the brutal nature of this disease hit me like no Ice Bucket Challenge could.
Strange pattern of symptoms
Ralf is a few years older than I am. He left home at a very young age to study informatics and he built his career working in the pharmaceutical and bank industry as an IT specialist, while I was still going to school and, later, university. Although we were geographically separated—he lived in Germany and I was studying and living in Switzerland—we always kept in close contact. Therefore, it was a huge shock when I did learn about his condition.
Ralph’s symptoms began slowly and subtly. Around Christmas in 2018 he experienced a change in his desire for chocolate. It tasted bitter, rather than sweet. Soon after, his colleagues at work noticed a change in his walking pattern and joked with him about “being drunk”. These and other symptoms lead to a series of doctor’s appointments that uncovered the root of his symptoms.
I will never forget May 22nd, 2019 and Ralf calling to tell me he had “potentially been diagnosed with something called ALS”. That was the beginning of a journey filled with fear, anger, uncertainty and frustration but also courage, mental strength, clarity, hope, and even moments of humor. When my brother had to choose the color of his wheelchair he went for, in his terms, Ferrari red! Despite his tragic condition, he could still joke around.
As we do not know the cause of ALS, there is a strong need for basic research in identifying
pathways and targets before we can think about potential drugs or treatments. At Charles River, I serve as the Director of Business Development for RMS (Research Models and Services) in Europe and as member of the ethical committee. From my vantage point I can see how new technologies like CRISPR/Cas9, the generation of transgenic animal models and advancements in genetics are helping us better understand this disease and how we might treat it in the future. The potential of creating new animal models and ensuring the genetic integrity of the animals over time, plus privileged breeding and proper health monitoring is ensuring more reliable and reproducible research results.
ALS patients: running against the clock
The limiting factor, of course, is funding and time. People with ALS don’t have a lot of either. (Though I am also reminded of the famous physicist Stephen Hawking, who had a slow progressive form of juvenile ALS and lived until 76.)
I salute the heroes being affected with a life threatening, progressive disease and their daily fight for life, even though many have a devastating and terminal prognosis with only a little chance of a cure. And I salute the scientists dedicating their time and careers to discover new therapies for these patients in need.
Jens Fritsche, PhD, MBA, is Director of Business Development, RMS Europe, at Charles River Laboratories.