Amyotrophic lateral sclerosis (ALS), in the majority of cases, is a disease that progresses quickly. Most people with ALS only live about three to five years after being diagnosed. However, ALS is also a very diverse condition – no two cases are alike – and outside of this majority, there are outliers. Some people pass away within months of an ALS diagnosis, while others, in rare cases, might live for decades. About 1 in 10 people with ALS live longer than 10 years after diagnosis.
One of the most recognizable people with ALS is the late Stephen Hawking. Hawking was a brilliant British theoretical physicist and cosmologist. He is well known both for his enormously influential research that reshaped our understanding of things like time, gravity, and black holes, and his efforts to help the general public understand the often-mind-bending concepts behind modern cosmology. His most famous book, A Brief History of Time, has sold over 25 million copies.
Hawking was diagnosed with ALS, or Motor Neuron Disease (MND), as it is often referred to in Europe, in 1963 at the age of 21. Despite an initial prognosis of only two years, he went on to live more than five decades with the disease, finally passing in 2018 at the age of 76. Throughout those years he gradually lost his ability to walk, speak, and even swallow – although at a much slower rate than most people with ALS. Throughout it all he retained his incredible intellect and continued writing for popular audiences, publishing scientific discoveries, and even giving speeches through a text-to-voice program that became synonymous with his public persona.
We don’t know exactly what causes the variability in ALS cases – why some cases are limb onset or bulbar onset, why some progress fast while others progress slow, or why some people, like Hawking, live longer than others. A large part of it likely has to do with the fact that ALS is, in actuality, more like a syndrome than a disease – a set of symptoms that can be related to different causes from case to case. We see this clearly in cases of familial ALS, which can be caused by many different genetic mutations, and it is most likely true of the 90% of ALS cases that are sporadic as well.
At the ALS Therapy Development Institute (ALS TDI), we are working hard to learn more about what is behind these dramatic variations in disease onset, progression, and prognosis among people with ALS. Through our Precision Medicine Program (PMP), we gather data and biological samples from people all over the world to learn more about different kinds of ALS. Among the goals of this to learn things from people with slower progressing ALS that could potentially help those with faster progressing cases.
Recently, we began a collaboration with Dr. Richard Bedlack of the Duke University ALS Clinic to study extremely rare cases of ALS reversals – cases that have stopped progressing, or even improved.
Through this research, we aim to better understand why certain people like Stephen Hawking live remarkably long lives with ALS – and what lessons their cases can teach us about treating all forms of the disease.
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