ALS
How would you like to have a weakness in speech and swallowing, paralysis, and then a death because your muscles that controlled breathing stopped working? I wouldn�t. These are some of the common symptoms of amyotrophic lateral sclerosis, also known as ALS, Lou Gehrig�s disease, and motor neuron disease. It is a dysfunction that affects 0.002 percent of the world�s population, or one in fifty thousand. It causes the fatal degeneration of the nervous system. The life expectancy of a patient with this disease is only three to five years. To know more about ALS, we should know exactly what it does, how it affects the lives of people with it, and recent research on this subject.
Amyotrophic lateral sclerosis affects 30,000 Americans. It disables patients� muscles. It will start with symptoms such as weakness or difficulty in speech or swallowing, then causing paralysis, later developing to paralyze their muscles accountable for breathing. People who have ALS first have weakness in hands and legs, muscle cramps, stiffness of muscles, and twitching muscles. The reason it makes people weaker and weaker until they are paralyzed is motor neurons, which are nerve cells in the brain stem and the spinal cord that control some muscles, deteriorate until all movement stops. This includes the act of breathing. However, motor neurons aren�t always involved in the onset of the disease. Some functions that are still retained are intellect, eye motion, bladder function, and the senses. This makes for a very slow and depressing death.
Many famous people have been affected by ALS, such as New York Yankees first baseman Lou Gehrig, actor David Niven, United States Senator Jacob Javits, composer Dimitry Shostakovich, former San Francisco 49ers Matt Hazeltine, Gary Lewis, Bob Waters, and theoretical physicist Stephen Hawking. More men than women are affected by this disease, which will eventually kill 5,000 people in the United States each year. It generally affects people over the age of 40, and only 5-10% of these people have a family history of the disease. Scientists still haven�t been able to find out any risk factors pertaining to your diet, your occupation, or the environment. They only know what happens after the disease has already struck.
Stephen Hawking is one of the most famous people to have ALS. When he first found out that he had this incurable disease, he felt depressed. The main symptom he had was falling down for no apparent reason. Once he learned he had the disease and would die in three to five years, he was shocked. He was told he should continue his research, but he was at a loose end because he didn�t know when he would die, or even if it would be worth it to complete his Ph.D. Before his diagnosis, he was bored with life, but after it he saw there were things worthwhile to do. He had some dreams about being executed and dying to save others. He didn�t die in the expected time, though. He started enjoying life more because he didn�t know how much life he had left. Even though he has the disease, he has been married twice and is living a somewhat normal life. ALS has advanced in his case, so he needs care 24 hours a day. Because of the disease, he speech became slurred to the point that only the people that knew him could understand him. After a tracheotomy operation, he couldn�t speak at all. Now, he has to use a speech synthesizer to talk. The only complaint he has with the synthesizer is that it gives him an American accent. He has lived for over 20 years with the disease, so there is hope for a long life for people with ALS.
Another case, much more extreme that Hawking�s is with Orval Jacques, a truck driver from Mississauga, Ontario. He experienced a strange numbness in the fingertips of his right hand, and then he lost strength in his right arm. He had his lawyer write up a living will, which includes instructions to his doctors not to resuscitate him if he loses consciousness. He doesn�t want oxygen tubes in his throat to help him breath or to be fed when he can�t swallow. His condition has depressed him to the point that, instead of bearing a painful death, he would rather have a doctor give him a lethal injection. This is a case that many doctors would like to avoid. In some states, assisting in a suicide can be punished by up to 14 years. Jacques� case is one reason that people would benefit from a cure. When someone wants to die, they won�t lead a productive life. ALS can affect people in this way. We need to sympathize with people who have this disease until a cure can be found.
There has been some recent research on ALS that has benefited our knowledge of the disease. Most research on the genetics of ALS has been focused on the hereditary form, which is different because it affects younger people and affects men and women equally. At Northwestern University in 1991, a team of researchers lead by Teepu Siddique found that the gene for familial ALS is located on chromosome 21. Two years later, they discovered that half of the people who inherit ALS have mutations in the gene that encodes for superoxide dismutase (SOD), which is an enzyme that protects the body against damage from highly reactive oxygen molecules called �free radicals.� These mutations change the structure of the enzyme it produces, which reduces its stability and activity. Now research at this university is concentrating on why these mutations only affect motor neurons and why it doesn�t appear until midlife. We now have the ability to introduce a defective SOD gene into mice which will cause many of the symptoms of ALS. This may help scientists find therapies more rapidly. Researchers have also tried making SOD in a laboratory and then using it as a drug. The only thing holding back this approach is that it will be difficult delivering this directly to motor neurons. Another method of research is finding out whether ALS is an autoimmune disorder. The body sometimes attacks itself in some ALS patients, but immunosuppressant drugs have not helped these patients.
A drug has been approved by the Food and Drug Administration by a vote of 5-4 because it suggested a longer survival time for some patients. The drug is called riluzole, which helps people live an extra three months, and more than a dozen patients told the FDA this drug was vital. It is important to patients because this is a race against time, and this approval gives some hope for patients that a cure will soon be discovered. There was no approved treatment and there currently is no cure for ALS. Riluzole was developed by Rhone-Poulenc Rorer. It doesn�t slow down the muscle deterioration or help the symptoms. But two studies were done on over 1,100 patients, showing that their lives could be prolonged. After 18 months of treatment with this drug, 57 percent of patients who took 100 milligrams of Rilutek every day were still alive, compared with patients who took placebo. Despite this research, doctors still don�t know what causes ALS, and no one knows why Rilutek helps some patients. According to one theory, ALS develops when an amino acid called glutamate builds up toxic levels in the brain, and Rilutek appears to block glutamate. Glutamate is essential in small doses, but deadly to motor neurons in large amounts. Despite some setbacks and some advances, treatments are being developed but cures aren�t. This drug isn�t a cure, but it�s a start.
ALS is one of the most distressing disorders there is. This is because all of the frustrations caused by such things as not knowing what causes the disease, not having a cure for it, a short life after it is acquired, and all of the stress caused by the symptoms. Research is advancing, so there is hope for a cure. Like any disease, they will have to find a universal cause for ALS in order to cure it. I believe that sometime in the future a cure will be found. There is something new discovered in the medical field every week, and we have a lot of technology in that area. If people don�t let the disease get the best of them mentally, they can still live out somewhat normal lives like Stephen Hawking has. So we should find a cure not only for this disease, but for many other disorders that affect humans every day. This will help to make a better future for ourselves.
Sources:
Garloch, Karen. �DNA: Decoding Disease.� Charlotte Observer (September 1994), pp. 1A+.
Gillyat, Peta. �Lou Gehrig�s Disease: More Questions than Answers.� Harvard Health Letter (February 1995), pp. 6-7.
Hawking, Stephen. �My Experience With ALS.� Black Holes and Baby Universes and Other Essays. New York: Bantam Books, 1993.
Jenish, D�Arcy. �Live and Let Die.� Maclean�s (February 1994), pp. 26-27.
Neergaard, Lauren. �Panel OK�s use of new drug to help fight Lou Gehrig Disease.� The Detroit News (1995).