Health Care and ALS

In the Golden Era of American baseball, Lou Gehrig teamed with Babe Ruth to form baseball's most devastating hitting tandem ever. The Iron Horse had 13 consecutive seasons with both 100 runs scored and 100 RBIs, averaging 139 runs and 148 RBIs; set an American League mark with 184 RBIs in 1931; hit a record 23 grand slams; and won the 1934 Triple Crown. His .361 batting average in seven World Series led the Yankees to six titles. A true gentleman and a tragic figure, Gehrig's consecutive games-played streak ended at 2,130 when he was felled by a disease that later carried his name, according to the Baseball Hall of Fame. Lou was the most valuable player the Yankees ever had because he was the prime source of their greatest asset -- an implicit confidence in themselves and every man on the club.


According to LouGehrig.com, ALS (Amyotrophic Lateral Sclerosis), also known as Lou Gehrig's Disease, is an incurable fatal neuromuscular disease characterized by progressive muscle weakness, resulting in paralysis. The disease attacks nerve cells in the brain and spinal cord. Motor neurons, which control the movement of voluntary muscles, deteriorate and eventually die. When the motor neurons die, the brain can no longer initiate and control muscle movement. Because muscles no longer receive the messages they need in order to function, they gradually weaken and deteriorate. The initial signs of ALS may vary. Symptoms include stiffness and increasing muscle weakness, especially involving the hands and feet. The disease eventually affects speech, swallowing and breathing. Because ALS only attacks motor neurons that control the body's voluntary muscles, patients' minds and senses are not impaired. Approximately 14 cases of ALS are diagnosed each day nationwide. Most of those who develop the disease are between 40 and 70 years of age. The average expected survival time for those suffering from ALS is three to five years. At any given time, approximately 30,000 people in the United States are living with the disease. The cause of ALS remains unclear, and no cure exists. While there is no drug to prevent or cure the disease, recent breakthroughs have resulted in Rilutek, a drug that modestly slows the progression of ALS.


According to the ALS Association, ALS has cut short the lives of other such notable and courageous individuals as Hall of Fame pitcher Jim "Catfish" Hunter, Senator Jacob Javits, actors Michael Zaslow and David Niven, creator of Sesame Street Jon Stone, television producer Scott Brazil, boxing champion Ezzard Charles, NBA Hall of Fame basketball player George Yardley, pro football player Glenn Montgomery, golfer Jeff Julian, golf caddie Bruce Edwards, British soccer player Jimmy Johnstone, musician Lead Belly (Huddie Ledbetter), photographer Eddie Adams, entertainer Dennis Day, jazz musician Charles Mingus, composer Dimitri Shostakovich, former vice president of the United States Henry A. Wallace and U.S. Army General Maxwell Taylor. ALS is a neurodegenerative disease that usually attacks both upper and lower motor neurons. A common first symptom is a painless weakness in a hand, foot, arm or leg, which occurs in more than half of all cases. The biological mechanisms that cause ALS are only partially understood. The only known cause of ALS is a mutation of a specific gene: the SOD1 gene. This mutation is believed to make a defective protein that is toxic to motor nerve cells. The SOD1 mutation, however, accounts for only 1 or 2 percent of ALS cases, or 20 percent of the familial (inherited) cases. Familial ALS represents between five to 10 percent of all cases. The rest arise spontaneously and mysteriously, making seemingly random attacks on previously healthy adults.


ALS can strike anyone, anytime, according to the ALS Association. Physicians have limited choices for treating ALS, and the options that do exist have come into use within the last 10 years. Studies suggest that patients' length of survival and quality of life are enhanced by night-time breathing assistance early in the course of the disease and by aggressive application of alternate feeding options to assure good nutrition once swallowing becomes difficult. At this time, riluzole is the only drug that has been approved by the FDA for treatment of ALS. In clinical trials, riluzole has shown a slight benefit in modestly increasing survival time. Stem cell and gene therapy are promising areas of research. In a variety of studies, ALS mouse models are being used to develop treatments that may someday lead to similar human clinical trials. Gene therapy is one field of research where The ALS Association is concentrating support for more study. More significant advances of research into ALS has occurred in the last decade than all of the time since Charcot identified the disease. Advances in technology and the genetic revolution are aiding researchers in unlocking the ALS mystery. As more scientists focus on this perplexing disease, the outlook for new understanding brightens each day.

According to the Mayo Clinic, researchers are studying several possible causes of ALS, including: 1.) Free radicals. The inherited form of ALS often involves a mutation in a gene responsible for producing a strong antioxidant enzyme that protects your cells from damage caused by free radicals — the byproducts of oxygen metabolism.
2.) Glutamate. People who have ALS typically have higher than normal levels of glutamate, a chemical messenger in the brain, in their spinal fluid. Too much glutamate is known to be toxic to some nerve cells.
3.) Autoimmune responses. Sometimes, a person's immune system begins attacking some of his or her body's own normal cells, and scientists have speculated that such antibodies may trigger the process that results in ALS.

As the disease progresses, according to the Mayo Clinic, people with ALS experience one or more of the following complications:
1.) Breathing problems--ALS eventually paralyzes the muscles needed to breathe. Some devices to assist your breathing are worn only at night and are similar to devices used by people who have sleep apnea. In the latter stages of ALS, some people choose to have a tracheostomy and use the full-time help of a respirator that inflates and deflates their lungs. The most common cause of death for people with ALS is respiratory failure, usually within three to five years after symptoms begin.
2.) Eating problems--When the muscles that control swallowing are affected, people with ALS can develop malnutrition and dehydration. They are also at higher risk of aspirating food, liquids or secretions into the lungs, which can cause pneumonia. A feeding tube can reduce these risks.
3.) Dementia--People with ALS are at higher risk of developing:
--Frontotemporal dementia
--Alzheimer's disease

If you're having some of the early signs and symptoms of a neuromuscular disease such as ALS, you might first consult your family doctor, who will listen to your description of symptoms and do an initial physical examination. Then your doctor will probably refer you to a neurologist for further evaluation, according to the Mayo Clinic. Once you're under the care of a neurologist, it may still take time to establish the diagnosis. If you've been referred to an academic medical center, your evaluation may involve a team of neurologists and other doctors specializing in different aspects of motor neuron disease. While a thorough workup usually means you're getting top-notch care, the process can be stressful and frustrating unless your medical team keeps you informed. These strategies may give you a greater sense of control. Keep a symptom diary. Before you see a neurologist, start using a calendar or notebook to jot down the time and circumstances each time you notice problems with walking, hand coordination, speech, swallowing or involuntary muscle movements. Your observations may reveal a pattern pointing to a specific diagnosis. Find one 'go-to' neurologist or neurology nurse specialist. If you see more than one doctor and visit more than one department, you need a coordinator who's familiar with your overall situation, willing to answer your questions and prepared to make your concerns known to the other people involved in your care. Your family doctor or the neurologist who orders your tests and subspecialty consultations may be the best candidate, but in some institutions, care coordination is the responsibility of a nurse, social worker, or case manager. Plus, your family doctor will carefully review your family's medical history and your signs and symptoms. Your neurologist and your family doctor may both check your neurological health by testing:
--Reflexes
--Muscle strength
--Muscle tone
--Senses of touch and sight
--Coordination
--Balance

Learning you have amyotrophic lateral sclerosis can be devastating. According to the Mayo Clinic, the following tips may help you and your family cope:
--Take time to grieve. The news that you have a fatal condition that will rob you of your mobility and independence is often nothing less than shocking. If you are newly diagnosed, you and your family will likely experience a period of mourning and grief.
--Be hopeful. Some people with amyotrophic lateral sclerosis live much longer than the three to five years typically associated with this condition. Some live 10 years or more. Keeping hope alive is vital for people with ALS.
--Think beyond the physical changes. ALS doesn't typically affect the intellect or spirit. Many people with amyotrophic lateral sclerosis lead rich, rewarding lives. Try to think of ALS as only one part of your life, not your entire identity.
--Join a support group. You may find comfort in sharing your concerns in a support group with others who have ALS. Your family members and friends helping with your care also may benefit from a support group of others who care for people with amyotrophic lateral sclerosis. Find support groups in your area by talking to your doctor or by contacting the ALS Association.
--Make decisions now about your future medical care. Planning for the future allows you to be in control of decisions about your life and your care. With the help of your doctor or hospice nurse, you can decide whether or not you want certain life-extending procedures. And you can determine where you want to spend your final days.

Talking about these issues isn't easy. But facing your anxieties about the future may help you better enjoy life today.

Until next time. Let me know what you think.