A New Pitch on ALS: Striking Out Lou Gehrig’s Disease

Lyndsey C's picture

        “Today, I consider myself the luckiest man on the face of the earth." Even if you’re not a big fan of baseball, you’re probably familiar with this unforgettable quote, stated by the legendary Lou Gehrig on July 4, 1939 as he addressed an admiring crowd honoring his achievements on Lou Gehrig Appreciation Day. Indeed, “The Iron Horse’s” lifestyle was so much more than lucky; Gehrig’s unparalleled talent earned him a position with the New York Yankees batting an average of .373 with 47 round-trippers and 175 RBIs in 1927. Still today, Gehrig holds the record for most career grand slam home runs and remains what the Baseball Writers Association proclaims the greatest first baseman of all time. For someone with so much talent and luck however, the marvel’s career was unfortunately cut short after just over 15 seasons following a devastating diagnosis in 1938 (5).

            What type of diagnosis could have the capacity to destroy a nearly invincible hero? The answer is Amyotrophic Lateral Sclerosis (ALS), a neurodegenerative disease which targets the neuromuscular system. Amyotrophic Lateral Sclerosis derives from the following three Greek words: “amyotrophic” translating as without muscle nourishment; “lateral” meaning side (of spinal cord); and “sclerosis” indicating hardening or scarring (1). In a healthy nervous system, messages from upper motor neurons send input from the brain to the spinal cord, and lower motor neurons continue to send messages from the spinal cord to muscles. ALS affects both upper and lower motor neurons, producing hardened or scarred nerves. Muscles subsequently become smaller and weaker as a result of a consistent lack of nerve signal input (2). Gradually over time, muscles weaken, atrophy, and/or twitch, eventually resulting in paralysis. Though the diseased individual’s senses of smell, sight, sound, taste, and feeling touch are still active (2), the disease renders a patient virtually immobile with a heartbreaking fate.

            What are the odds that someone like Lou Gehrig, whose career so greatly depended on physical strength and mobility, would contract such a debilitating disease? According to current research, as many as 20,000 Americans suffer from ALS. In fact, it happens to be one of the most common neuromuscular diseases worldwide (4), most cases emerging at around 40-60 years of age. Gehrig was just 4 years shy of 40 years old when he was diagnosed (5). Tragically, most patients with ALS pass away due to respiratory failure within 3-5 years after the onset of symptoms (4). Sadly, Gehrig was no exception. On a more optimistic note, however, nearly 10% of ALS patients survive 10 years or longer, such as the famous physicist Stephen Hawking, who has been battling ALS for almost 40 years (1). In future research, it would be interesting to study the buffer mechanism responsible for slowing the progression of the disease in such cases. Still, the majority’s mortality rate is alarmingly low, so the importance of and immediate need for improving outcome cannot be emphasized enough.

            Perhaps what is most shocking about ALS is the lack of knowledge regarding etiology, or origin of the disease. Studies have concluded that approximately 5-10% of ALS cases are hereditary, and such cases have been coined Familial ALS (3). Nearly 20% of such cases have been attributed to a genetic defect which causes a mutation of superoxide dismutase 1, or SOD1, an important enzyme typically involved in certain metabolic processes including binding copper and zinc ions. Additionally, SOD1 is partially responsible for destroying free superoxide radicals and converting such ions into molecular oxygen and hydrogen peroxide (2). It follows that mutations in this gene are associated with the development of ALS, but the exact implications of these findings continue to be a mystery. On the other hand, the remaining 90% of ALS cases, known as Sporadic ALS, are genetically unaccounted for. Researchers have theorized that Sporadic ALS effects may be a result of excessive levels of glutamate in the brain. Glutamate is a neurotransmitter that enables neurons to send signals to one another, but high levels of this neurochemical can lead to neuron cell death (3). In my opinion, current data does not appear to be wholly convincing, however; it seems likely that other factors may play a role in the emergence of this devastating disease. For example, perhaps viruses, immune system deficiencies, or even environmental toxins may also account for the development of ALS. Despite the fact that it is very disappointing to learn that, though the disease was discovered in 1869, modern science has not yet fully unearthed ALS etiology, it is still very important to appreciate the great lengths science has taken to come closer to concretizing a solution. Nevertheless, hundreds of ALS families continue to struggle with unanswerable questions, one of which may be related to the puzzling nature of the disease which renders a cure to be nonexistent even day. Can the smallness of finding be attributed to a lack of sufficient techniques and tools, or it is instead due to a low grade of interest in the disease as compared to others? Whatever the case, the facts continue to yield many challenges. It is my hope that sustained discussion on the subject, through web papers and forum discussions for example, will encourage increased attention to and research so we may eventually come to more decisive conclusions about the disease and thus improve treatment options for those suffering from this fatal disease.

Another often overlooked negative side effect of ALS’ puzzling etiology is that the diagnostic process is subsequently somewhat blemished. Surprisingly (and perhaps troublesomely), no single procedure can directly test for ALS, but since symptoms frequently mirror those of several other conditions such as Parkinson’s disease, patients frequently undergo a series of diagnostic analyses to exclude the possibility of other disorders (2). For example, magnetic resonance imaging (MRIs) may be conducted to produce images of the brain and spinal cord to subsequently reveal evidence of another problem causing the ALS symptoms, such as a tumor growth. Another such test which is often administered is the electromyography (EMG) which functions to detect electrical activity in muscles. Though both tests described above are effective in screening for other conditions, misdiagnoses and unidentified cases of ALS are inevitable. Undeniably, this process of elimination has many drawbacks: it is faulty; it often takes a lot of time; it may be costly; and it can be potentially anxiety inducing. In fact, I might even argue that the risks of ALS testing somewhat outweigh the benefits of an ultimate diagnosis. Admittedly, perhaps it is more constructive to argue for the development of increased research to first identify causal factors of the disease so that eventually a specialized ALS test may be developed and administered to individuals.

Another frustrating consequence of ALS is that, like so many other mysterious disorders, since the cause of ALS is yet to be determined there is currently no way to prevent or cure the disease, as has been mentioned above. Nevertheless, research has yielded a limited number of effective treatment options designed to improve the patient’s quality of life. For example, physicians can prescribe a multitude of medications to alleviate muscle cramping, reduce fatigue, control spasticity, etc (4). Additionally, depressive symptomology may arise as a result of the awareness that one’s functioning is deteriorating, and these negative effects may be reduced with the prescription of antidepressants or anxiolytics. Furthermore, physical therapy is often utilized to help patients cope with muscle loss, and special equipment may be employed to assist patients with basic needs. Lastly, speech therapy can greatly benefit patients who manifest speaking difficulties that result from the atrophy of muscles necessary for speech production (2). Though these treatment alternatives have improved the lives of many ALS patients to some extent, it is my genuine hope that science is in no way satisfied with such substitutes for an ultimate cure and that research will continue to make progress in uncovering ALS’ many obscurities.

I like to think that the world’s many imperfections, such as illness, are what motivate us as humans to succeed or strive for better. In following with this optimism, I have faith that science will eventually yield more conclusive statements regarding ALS and many other diseases that currently necessitate increased research and explanations. Several encouraging ALS support groups and ALS awareness groups have been established to advocate for patients and loved ones in addition to helping such individuals cope while simultaneously disseminating information about the disease. Additionally, by associating ALS with baseball legend Lou Gehrig, the disease has been given a familiar face and public questions and concerns have increased, producing greater interest in, and perhaps funding for, current research. However, though today there is a progression of research to discover the cause of ALS and to understand the mechanisms involved in the progression of the disease, it is my hope that this paper has encouraged readers to further investigate (or at least develop a compassionate interest in) the subject which, of course, is an important motivating factor for developing an ultimate cure.

 

 

(1) Kids Health: article, Lou Gehrig’s Disease (ALS). Reviewed by Elana Pearl Ben Joseph, September 2006.

http://www.kidshealth.org/kid/grownup/conditions/als.html

 

(2) National Institute of Neurological Disorders and Stroke:                                   

http://www.ninds.nih.gov/disorders/amyotrophiclateralsclerosis/amyotrophiclateralsclerosis.htm

 

(3) Mayo Foundation for Medical Education and Research: article, Amyotrophic Lateral Sclerosis. Dec 1, 2006.

 http://www.mayoclinic.com/health/amyotrophic-lateral-sclerosis/DS00359

 

(4) Focus on ALS: February 27, 2008.

 http://www.focusonals.com/index.htm

 

(5) Wikipedia, the Free Encyclopedia: article, Lou Gehrig.       

 http://en.wikipedia.org/wiki/Lou_Gehrig

 

 

Comments

Bill H's picture

Thank You

Thank you Lyndsey for such a well written and well explaned paper on ALS. As a patient with ALS I find it heart warming that there are people out there working to promote awareness and knowledge of this disease. I believe that by bringing this disease closer to the forefront that one day they will both a treatment and a cure. I hope that your paper becomes widely diseminated to the public. Thanks again.

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