Each year, nearly 5,600 people in the United Sates are diagnosed with Amyotrophic Lateral Sclerosis (ALS), often referred to as "Lou Gehrig's Disease." According to the ALS Association, it's estimated that as many as 30,000 Americans may have the disease at any given time.
This summer, people from all walks of life — celebrities, past presidents, professional athletes, doctors and teachers — showed their commitment to fighting the disease, drenching themselves with ice-cold water to raise awareness or donating directly to the cause. Since July, the ALS Association has received more than $100 million in donations. Now it is time to turn this opportunity for a national spotlight into results.
Understanding the disease, and the risk
ALS is a neurodegenerative disease that attacks nerve cells in the brain and spinal cord. The progressive degeneration of the motor neurons prevents the brain from initiating and controlling muscle movements. With voluntary muscle action progressively getting worse, patients in the later stages of the disease can become totally paralyzed and eventually die. An estimated 10 percent of patients have a familial form of ALS, while the rest — nearly 90 percent — are diagnosed with the disease almost at random, with no clearly associated risk factors.
ALS does not affect a person's ability to see, smell, taste, hear or recognize touch. In fact, most of the time, patients at even the latest stages can control their eye muscles, bladder and bowel functions. Life expectancy is two to five years from the time of diagnosis, but with advances in multidisciplinary care, some patients are living longer.
A profound, but rare, example of this is renowned physicist Stephen Hawking , who contracted a form of ALS in 1963. While most are diagnosed with the disease after the age of 50, doctors diagnosed Hawking at the age of 21, predicting he wouldn't live long enough to see his 25th birthday. But now, almost a half-century later, Hawking is the director of research at the University of Cambridge Center for Theoretical Cosmology, after spending 30 years as a professor at the school. Whether Hawking's longevity is a result of exceptional care, his own biology or variability of the disease, one thing is certain — he never let ALS slow him down.
It was no different when it came to the Ice Bucket Challenge . Although Hawking noted it wouldn't be "wise" to pour ice water on himself, his children volunteered to carry out the task for him. In the video, he urged everyone to "eliminate this terrible disease." He continues to give hope to those affected by ALS, proving that not all people coping with the disease will have a short life.
Even though Hawking's case represents a small percentage of those suffering from ALS, there is other evidence that the disease may one day be slowed — or even prevented.
While there is currently no cure for ALS, the U.S. Food and Drug Administration (FDA) approved the first drug treatment for the disease in 1995. Clinical trials with ALS patients showed that the drug prolongs survival by several months, specifically for those with difficulty swallowing, and extends the time before an individual needs ventilation support.
Other treatments for ALS are focused on relieving symptoms and improving the quality of life for individuals with the disease. This type of care is best maintained by utilizing a wide range of specialists, including physicians, pharmacists, nutritionists, and occupational and speech therapists. For example, physicians can prescribe medications to reduce symptoms like fatigue and muscle cramps, while physical therapists can help individuals practice gentle, low-impact exercises to enhance independence and strength. Speech therapists can introduce those who have trouble speaking to adaptive strategies to help them talk louder or more clearly, and nutritionists can create meal plans to ensure individuals are getting enough calories, fiber and fluids. It takes a team of specialists to support patients with ALS. Optimal management of the disease is the goal here at the Ohio State Wexner Medical Center Multidisciplinary ALS/MND Clinic and clinics throughout the world.
Deciphering the disease
Right now is an exciting time in research for ALS. Powerful insights into what triggers motor neurons to degenerate are coming from an explosion of genetic information over the last five years. Defects in RNA metabolism, axonal transport and maintenance of proteins in cells are all topics of intense focus within the research community.
For example, recent research has shown that familial ALS might be related to sporadic ALS, based off findings that genetic abnormalities seen in people with familial forms are also seen in some people with no apparent family history. There is also progress in the ability to model ALS in the lab, which may someday result in personalized therapies for people with ALS. Different areas of research are ongoing and continually developing, and each new discovery gets us closer to solving the problem.
However, until we find a cure, we're not done. The Ice Bucket Challenge is an important step in the right direction, giving the disease the serious and widespread attention it deserves. This November, the movie detailing Hawking's life, and his struggles and triumphs living with the disease, will also shed light on the importance of allocating more resources to the cause. Despite these current events, I urge you to continue your efforts to "pour it forward" and educate yourself about ALS year round.
Follow all of the Expert Voices issues and debates — and become part of the discussion — on Facebook, Twitter and Google+. The views expressed are those of the author and do not necessarily reflect the views of the publisher. This version of the article was originally published on Live Science.
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