What is ALS? That is a common question that has plagued scientists, researchers, and ordinary people alike for many years. ALS is otherwise known as Lou Gehrig's Disease. ALS, or Lou Gehrig’s Disease, is a progressive type of amyotrophic lateral sclerosis, which is a neurodegenerative disease. ALS affects the nerve cells in a person’s brain and spinal cord, in the areas where the nerve cells send signals to control the muscles in the body. As degenerations occur, scarring and sclerosis occur, and eventually cause the death of motor neurons in the body. This in turn causes the loss of the brain’s control over muscle movement. This causes the ability to eat, speak, move, and breathe to be lost in ALS patients.
In the United States, Sporadic ALS is the most common form of ALS. It is approximately 90%-95% of all ALS cases recorded. There are many possible causes for Sporadic ALS, although no definitive cause has been determined. The many possible causes are oxidative stress, mitochondrial dysfunction, glutamate toxicity, toxic exposures, and abnormalities of the immune system. Oxidative stress is when a person has a significant imbalance of the production of oxygen-containing molecules, and the biological system’s ability to detoxify them. Mitochondrial dysfunction involves the body’s mitochondria, which are the powerhouse of cells. Any type of abnormality in the mitochondria is possibly involved in causing ALS or exacerbating it. Glutamate toxicity occurs when the neurotransmitter chemical glutamate accumulates around a nerve cell after it has been signaled. This causes problems for the nerve cells around it. Glutamate toxicity can be caused by inadequate transportation of glutamate away from the nerve cells. Toxic exposures aren’t a clear link to ALS at the moment, but serving in the military, especially in the Gulf War, is a possible risk factor. Cyanobacteria is a microorganism that lives in desert sand. As desert sand is kicked up in dust, it is inhaled, which elevates the risk of ALS. Lead, mercury, and arsenic have also been seen to attack the nervous system, but not directly are they linked to ALS. Abnormalities in the immune system, such as immunologic cells called microglia (as microglia are found in the immune system), can be beneficial to some extent, but past that are harmful in regards to ALS, as they modify the immune system’s actions. Although these causes are probable, they haven’t been determined for one hundred percent certainty, as a known cause is difficult to determine.
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Familial ALS is ALS that is considered a “genetic dominant inheritance,” meaning that it can occur multiple times in a family tree and can be passed down and inherited. It is extremely rare and is approximately 5%-10% of all ALS cases. There is a 50% chance for the ALS gene mutation to be inherited by families afflicted with familial ALS. Many mutations in genes have been determined that are linked to ALS. These include mutations in the SOD1 gene, the TDP43 protein gene, the FUS gene, the ubiquitin 2 protein gene, and the C9ORF72 gene. A mutation in the SOD1 (superoxide dismutase 1) gene is recorded in approximately 20 percent of familial ALS cases and was the first to be associated with ALS in 1993. A mutation in the TDP43 protein gene was recorded as a small percentage of familial ALS in 2009, along with a mutation in the FUS gene. In 2011, a mutation in the ubiquitin 2 protein gene was also discovered as a cause of familial ALS, along with a mutation in the C9ORF72 gene. The mutation in the C9ORF72 gene was found to be the most prominent gene mutation involved in familial ALS than any others. It is twice as common as the SOD1 mutation, and three times as common as the TDP43 and FUS gene mutations.
Guamanian ALS is extremely rare and has only been recorded a few times in the 1950s, in the United States territories of Guam and Trust.
ALS symptoms are often gradual and start off simple and escalate depending on the person. Symptoms often start with being unable to grasp and pick up objects, abnormal fatigue of body parts, a change in vocal pitch, tripping, muscle cramps/twitches, slurred speech, and/or uncontrollable fits of laughing or crying. ALS is different for every person with the disease and progresses at a different rate for every individual. Although symptoms vary based on the person, muscle weakness and eventually paralysis are experienced by most. As the breathing muscles become affected, people with ALS will need the help of permanent ventilatory support. The average survival time for someone diagnosed with ALS is three to five years, or in rare cases, ten or more years.
Diagnosis is incredibly hard to do for people affected by ALS. There are only clinical examinations and diagnostic tests to rule out other diseases, and then to rule in ALS. EMG (Electromyography), and NCV (Nerve Conduction Velocity), are electrodiagnostic tests that can be used to diagnose ALS, along with blood and urine samples, high-resolution serum protein electrophoresis, thyroid and parathyroid hormone levels, and a 24-hour urine collection for heavy metals. Other tests diagnostic tests include spinal taps, x-rays, MRIs, myelograms of the cervical spine, muscle and/or nerve biopsies, and a thorough neurological examination. Diagnosis should be done by an ALS specialist, as many diseases mimic the symptoms of ALS, and can be mistaken for it.
No treatment can undo the damage done by ALS, but treatment can slow the progression of the symptoms of ALS. Having a team of doctors trained in all different areas can help to prolong survival and the quality of life for patients with ALS. There are two drugs to treat ALS, Riluzole, and Edaravone. Riluzole (Rilutek) slows the progression of ALS by reducing the levels of glutamate in the brain. It is taken as a pill, and side effects include but are not limited to dizziness, gastrointestinal issues, and changes in liver function. Edaravone (Radicava) was FDA approved in 2017, due to the reduction of declinement in the daily functioning of ALS patients (in a six-month clinical trial). Edaravone is given through intravenous infusion for ten to fourteen days in a row every month. Side effects include bruising, gait disturbance, hives, swelling, shortness of breath, and an allergic reaction to sodium bisulfate for patients with sulfate sensitivity. Other medications can be prescribed for the many symptoms of ALS, including muscle cramps and spasms, fatigue, pain, depression, and sleep problems. Therapy is another type of treatment that can improve the quality of life for an ALS patient. These therapies include breathing therapy, occupational therapy, physical therapy, speech therapy, psychological and social support, and nutritional support. As the breathing muscles deteriorate due to ALS, breathing becomes difficult, and mechanical ventilation may be needed. A tube is inserted by a doctor in the front of the patient’s neck leading to their windpipe and is then connected to a respirator. Occupational therapy is a way for patients to remain somewhat independent, despite all challenges and resistance from their bodies. Occupational therapists show how to use adaptive equipment to perform tasks such as getting dressed, bathing, eating, and self-care. Also, the patient’s house can be modified to allow for easier accessibility. Physical therapy can help to keep a patient active while they still can be, by practicing low-impact exercises to maintain health in a fitness aspect. Exercise can help alleviate some pain and improve a patient’s “sense of well-being.” Speech therapy can help an ALS patient to discover alternate and adaptive techniques to make their speech more clear, and other methods of communicating with others. A patient can also use tablets and/or computers to use text-to-speech apps to help them communicate. Psychological and social support can help an ALS patient and their family with not only emotional support, but help with finances, insurance, and receiving the necessary equipment for everyday life. Nutritional support is needed for ALS patients to make eating food easier, as it may be hard for them to swallow solid food, while also getting all of the nutrients that are needed. Many ALS patients will eventually need a feeding tube to eat. All in all, there is no cure for ALS yet, hopefully, there will be one soon, but for now patients rely on clinical trials.
Lou Gehrig’s parents moved to America from Germany and he was born in New York on June 19th of 1903. At this time, ALS was not widely publicized or fought against, and very few people knew that it existed. For seventeen years, Gehrig played for the New York Yankees at first base. He became a household name and an extremely impressive baseball player. He even helped lead the New York Yankees to win six World Series championships. In 1938, Lou Gehrig’s athletic prowess began to decline, and he realized that he found it difficult to tie his shows. He was diagnosed with ALS at the Mayo Clinic shortly after. On July 4th of 1939, Lou Gehrig, The New York Yankees, friends, family, and fans, gathered at Yankee Stadium to hear Gehrig’s inspiring speech. Gehrig stated that he was the luckiest man on Earth, despite being diagnosed with ALS, because of everything he had been blessed with in his life. He determined that being diagnosed with ALS was only a bad break for him, but he made it clear that it wouldn’t define him. On June 2nd of 1941, when Lou Gehrig was 37 years old, he died in his sleep. Today he is seen as a courageous man who made the best out of a terrible situation. That is the reason why ALS is nicknamed “Lou Gehrig’s Disease,” because of Gehrig’s high profile and acts of courage.
The ALS Ride for Life was founded in 1997 after Chris Pendergast was diagnosed with ALS. The Ride for Life is in its 22nd year trying to achieve its goal of raising awareness and funds to discover a cure for ALS, while also supporting patients with ALS. May is ALS Awareness Month. The Ride For Life patients, supporters, and advocates, walk, ride their scooters, or get pushed in their wheelchairs for miles on end to raise awareness. Along the walk, they yell things like “Strike out ALS,” and other things related to the cause. Chris Pendergast has made journeys from Yankee Stadium all the way to Washington, D.C. to raise awareness, and he shows no sign of stopping. When he was diagnosed, Chris Pendergast was given three years to live. Today, he defies those odds by living for twenty-two years after his diagnosis, nineteen years longer than projected. Another way money was being raised was through the ALS Ice Bucket Challenge. People were challenged to pour a bucket of ice-water over themselves and post a video of it online to help raise awareness. In this video, they would challenge other people to complete the challenge and donate money to ALS research. In the end, over $155 million was raised to find a cure.
ALS is clearly no joke. Every day 15 people are diagnosed with ALS. Every year more than 5,600 people are diagnosed with ALS. Approximately 30,000 people in America currently live their everyday lives with ALS. Every year approximately 2 out of every 100,000 ALS patients die because of the disease. With the average life expectancy being 2 to 5 years for ALS patients, many of them don’t make it that far. Few are fortunate to outlive the life expectancy, like Chris Pendergast, but ALS shows no mercy for anyone: male or female. Approximately 60% of ALS patients are men, and 40% are women.
ALS shows no plans of slowing down or ending, but researchers, scientists, and doctors also don’t. Every day, money is raised to fund research for a cure. No donation is too little, as it goes a long way to improving the outlook for a person diagnosed with ALS, and in helping in the overall fight for a cure. It is my hope, that in the future, we can STRIKE OUT ALS.
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