Felipe Tobias
Feb. 6, 1966 - Nov. 12, 2005
Family
Wife Juanita and there two sons
Hermenejildo and Guadalupe
Feb. 6, 1966 - Nov. 12, 2005
Family
Wife Juanita and there two sons
Hermenejildo and Guadalupe
Felipe Tobias
What is ALS
Amyotrophic lateral sclerosis (ALS), often referred to as "Lou Gehrig's disease," is a progressive neurodegenerative disease that affects nerve cells in the brain and the spinal cord. Motor neurons reach from the brain to the spinal cord and from the spinal cord to the muscles throughout the body. The progressive degeneration of the motor neurons in ALS eventually lead to their death. When the motor neurons die, the ability of the brain to initiate and control muscle movement is lost. With voluntary muscle action progressively affected, patients in the later stages of the disease may become totally paralyzed. Yet, through it all, for the vast majority of people, their minds remain unaffected.
A-myo-trophic comes from the Greek language. "A" means no or negative. "Myo" refers to muscle, and "Trophic" means nourishment---"No muscle nourishment." When a muscle has no nourishment, it "atrophies" or wastes away. "Lateral" identifies the areas in a person's spinal cord where portions of the nerve cells that signal and control the muscles are located. As this area degenerates it leads to scarring or hardening ("sclerosis") in the region.
As motor neurons degenerate, they can no longer send impulses to the muscle fibers that normally result in muscle movement. Early symptoms of ALS often include increasing muscle weakness, especially involving the arms and legs, speech, swallowing or breathing. When muscles no longer receive the messages from the motor neurons that they require to function, the muscles begin to atrophy (become smaller). Limbs begin to look "thinner" as muscle tissue atrophies.
Although the cause of ALS is not completely understood, the recent years have brought a wealth of new scientific understanding regarding the physiology of this disease.
While there is not a cure or treatment today that halts or reverses ALS, there is one FDA approved drug, Rilutek®, that modestly slows the progression of ALS as well as several other drugs in clinical trials that hold promise.
Importantly, there are significant devise and therapies that can manage the symptoms of ALS that help people maintain as much independence as possible and prolong survival. It is important to remember that ALS is a quite variable disease; no two people will have the same journey or experiences. There are medically documented cases of people in whom ALS ‘burns out, stops progressing or progresses at a very slow rate.
Initial Symptoms of the Disease
At the onset of ALS the symptoms may be so slight that they are frequently overlooked. With regard to the appearance of symptoms and the progression of the illness, the course of the disease may include the following:
Muscle weakness in one or more of the following: hands, arms, legs or the muscles of speech, swallowing or breathing
Twitching (fasciculation) and cramping of muscles, especially those in the hands and feet
Impairment of the use of the arms and legs
"Thick speech" and difficulty in projecting the voice
In more advanced stages, shortness of breath, difficulty in breathing and swallowing
The initial symptoms of ALS can be quite varied in different people. One person may experience tripping over carpet edges, another person may have trouble lifting and a third person's early symptom may be slurred speech. The rate at which ALS progresses can be quite variable from one person to another. Although the mean survival time with ALS is three to five years, many people live five, ten or more years. In a small number of people, ALS is known to remit or halt its progression, though there is no scientific understanding as to how and why this happens. Symptoms can begin in the muscles of speech, swallowing or in the hands, arms, legs or feet. Not all people with ALS experience the same symptoms or the same sequences or patterns of progression. But, progressive muscle weakness and paralysis are universally experienced. Muscle weakness is a hallmark initial sign in ALS, occurring in approximately 60% of patients. Early symptoms vary with each individual, but usually include tripping, dropping things, abnormal fatigue of the arms and/or legs, slurred speech, muscle cramps and twitches and/or uncontrollable periods of laughing or crying. The hands and feet may be affected first, causing difficulty in lifting, walking or using the hands for the activities of daily living such as dressing, washing and buttoning clothes. As the weakening and paralysis continue to spread to the muscles of the trunk of the body the disease, eventually affects speech, swallowing, chewing and breathing. When the breathing muscles become affected, ultimately, the patient will need permanent ventilatory support in order to survive. Since ALS attacks only motor neurons, the sense of sight, touch, hearing, taste and smell are not affected. For many people, muscles of the eyes and bladder are generally not affected. For the vast majority of people, their mind and thoughts are not impaired and remain sharp despite the progressive degenerating condition of the body.
Who Gets ALS
ALS is a disorder that affects the function of nerves and muscles. Based on U.S. population studies, a little over 5,600 people in the U.S. are diagnosed with ALS each year. (That's 15 new cases a day.) It is estimated that as many as 30,000 Americans have the disease at any given time. According to the ALS CARE Database, 60% of the people with ALS in the Database are men and 93% of patients in the Database are Caucasian.
Most people who develop ALS are between the ages of 40 and 70, with an average age of 55 at the time of diagnosis. However, cases of the disease do occur in persons in their twenties and thirties. Generally though, ALS occurs in greater percentages as men and women grow older. ALS is 20% more common in men than in women. However with increasing age, the incidence of ALS is more equal between men and women.There are several research studies - past and present - investigating possible risk factors that may be associate with ALS. More work is needed to conclusively determine what genetics and/or environment factors contribute to developing ALS.
Half of all people affected with ALS live at least three or more years after diagnosis. Twenty percent live five years or more; up to ten percent will live more than ten years.
There is some evidence that people with ALS are living longer, at least partially due to clinical management interventions, riluzole (Rilutek®) and possibly other compounds and drugs under investigation.
Forms of ALS
Three classifications of ALS have been described:
Sporadic - the most common form of ALS in the United States - 90 to 95% of all cases.
Familial - occurring more than once in a family lineage (genetic dominant inheritance) accounts for a very small number of cases in the United States - 5 to 10% of all cases.
Guamanian - an extremely high incidence of ALS was observed in Guam and the Trust Territories of the Pacific in the 1950's.
The most common form of ALS in the United States is "sporadic" ALS. It may affect anyone, anywhere. "Familial" ALS (FALS) means the disease is inherited. Only about 5 to 10% of all ALS patients appear to have genetic or inherited form of ALS. In those families, there is a 50% chance each offspring will inherit the gene mutation and may develop the disease.
Facts You Should Know About ALS
The onset of ALS is insidious with muscle weakness or stiffness as early symptoms. Progression of weakness, wasting and paralysis of the muscles of the limbs and trunk as well as those that control vital functions such as speech, swallowing and later breathing generally follows.
In most cases, mental faculties are not affected.
ALS is not contagious.
It is estimated that ALS is responsible for nearly two deaths per hundred thousand population annually. More people die every year of ALS than of Huntington's disease or multiple sclerosis and it occurs two-thirds as frequently as multiple sclerosis.
Approximately 5,600 people in the U.S. are diagnosed with ALS each year. The incidence of ALS (two per 100,000 people) is five times higher than Huntington's disease and about equal to multiple sclerosis. It is estimated that as many as 30,000 Americans may have the disease at any given time.
Although the life expectancy of an ALS patient averages about two to five years from the time of diagnosis, this disease is variable and many people live with quality for five years and more. More than half of all patients live more than three years after diagnosis.
About twenty percent of people with ALS live five years or more and up to ten percent will survive more than ten years and five percent will live 20 years. There are people in whom ALS has stopped progressing and a small number of people in whom the symptoms of ALS reversed.
ALS occurs throughout the world with no racial, ethnic or socioeconomic boundaries.
ALS can strike anyone.
Present treatment of ALS includes one drug, riluzole (Rilutek©) and is aimed at symptomatic relief, prevention of complications and maintenance of maximum optimal function and optimal quality of life. Most of this, in the later stages, requires substantial physical caregiving. Information on Rilutek. http://www.alsa.org/files/cms/Resources/Riluzole2.pdf
In 1991 a team of ALSA-funded researchers linked familial ALS to chromosome 21. In 1993 the research team identified a defective SOD1 gene on chromosome 21 as responsible for many cases of familial ALS. Further study indicated over 60 mutations (structural defects) in the SOD (superoxide dismutase) enzyme which alters the enzyme's ability to protect against free radical damage to motor neurons. These studies open possibilities for future therapies or strategies to effectively mediate both familial and sporadic ALS. But much more research on the SOD enzyme is needed. Also, researchers have not ruled out other gene involvement (on other chromosomes) in ALS.
There can be significant costs for medical care, equipment and home health caregiving later in the disease. It is important to be knowledgeable about your health plan coverage and other programs for which your may be eligible, including SSA, Medicare, Medical and Veteran Affairs benefits.
Rilutek®, the first treatment to alter the course of ALS, was approved by the FDA in late 1995. This antiglutamate drug was shown scientifically to prolong the life of persons with ALS by at least a few months. More recent studies suggest Rilutek® slows the progress of ALS, allowing the patient more time in the higher functioning states when their function is less affected by ALS. Rilutek® is manufactured by Aventis Pharmaceuticals. There is a patient Assistance Program that helps patients who qualify to receive the drug without charge. Many private health plans cover the cost of Rilutek®. Contact your local ALSA Chapterhttp://www.alsa.org/community/chapters.cfm or the National Officehttp://www.alsa.org/alsa/contact.cfm for the Patient Assistance Program resource and more information about access to Rilutek®.Reports from three separate patient databases described long range experience with Rilutek®. All three reports suggest a trend of increasing survival with Rilutek® over time. More studies that are double blind and controlled are needed to confirm these database observations. The trend appears to indicate that longer periods of time than those used in the Rilutek® clinical trials may be needed to see the long-term survival advantage of the drug. An interesting observation was that despite the fact that the Irish government provides Rilutek® free of charge to people in Ireland with ALS, only two-thirds of the patients registered in the Ireland national ALS database reported taking Rilutek.
Amyotrophic lateral sclerosis (ALS), often referred to as "Lou Gehrig's disease," is a progressive neurodegenerative disease that affects nerve cells in the brain and the spinal cord. Motor neurons reach from the brain to the spinal cord and from the spinal cord to the muscles throughout the body. The progressive degeneration of the motor neurons in ALS eventually lead to their death. When the motor neurons die, the ability of the brain to initiate and control muscle movement is lost. With voluntary muscle action progressively affected, patients in the later stages of the disease may become totally paralyzed. Yet, through it all, for the vast majority of people, their minds remain unaffected.
A-myo-trophic comes from the Greek language. "A" means no or negative. "Myo" refers to muscle, and "Trophic" means nourishment---"No muscle nourishment." When a muscle has no nourishment, it "atrophies" or wastes away. "Lateral" identifies the areas in a person's spinal cord where portions of the nerve cells that signal and control the muscles are located. As this area degenerates it leads to scarring or hardening ("sclerosis") in the region.
As motor neurons degenerate, they can no longer send impulses to the muscle fibers that normally result in muscle movement. Early symptoms of ALS often include increasing muscle weakness, especially involving the arms and legs, speech, swallowing or breathing. When muscles no longer receive the messages from the motor neurons that they require to function, the muscles begin to atrophy (become smaller). Limbs begin to look "thinner" as muscle tissue atrophies.
Although the cause of ALS is not completely understood, the recent years have brought a wealth of new scientific understanding regarding the physiology of this disease.
While there is not a cure or treatment today that halts or reverses ALS, there is one FDA approved drug, Rilutek®, that modestly slows the progression of ALS as well as several other drugs in clinical trials that hold promise.
Importantly, there are significant devise and therapies that can manage the symptoms of ALS that help people maintain as much independence as possible and prolong survival. It is important to remember that ALS is a quite variable disease; no two people will have the same journey or experiences. There are medically documented cases of people in whom ALS ‘burns out, stops progressing or progresses at a very slow rate.
Initial Symptoms of the Disease
At the onset of ALS the symptoms may be so slight that they are frequently overlooked. With regard to the appearance of symptoms and the progression of the illness, the course of the disease may include the following:
Muscle weakness in one or more of the following: hands, arms, legs or the muscles of speech, swallowing or breathing
Twitching (fasciculation) and cramping of muscles, especially those in the hands and feet
Impairment of the use of the arms and legs
"Thick speech" and difficulty in projecting the voice
In more advanced stages, shortness of breath, difficulty in breathing and swallowing
The initial symptoms of ALS can be quite varied in different people. One person may experience tripping over carpet edges, another person may have trouble lifting and a third person's early symptom may be slurred speech. The rate at which ALS progresses can be quite variable from one person to another. Although the mean survival time with ALS is three to five years, many people live five, ten or more years. In a small number of people, ALS is known to remit or halt its progression, though there is no scientific understanding as to how and why this happens. Symptoms can begin in the muscles of speech, swallowing or in the hands, arms, legs or feet. Not all people with ALS experience the same symptoms or the same sequences or patterns of progression. But, progressive muscle weakness and paralysis are universally experienced. Muscle weakness is a hallmark initial sign in ALS, occurring in approximately 60% of patients. Early symptoms vary with each individual, but usually include tripping, dropping things, abnormal fatigue of the arms and/or legs, slurred speech, muscle cramps and twitches and/or uncontrollable periods of laughing or crying. The hands and feet may be affected first, causing difficulty in lifting, walking or using the hands for the activities of daily living such as dressing, washing and buttoning clothes. As the weakening and paralysis continue to spread to the muscles of the trunk of the body the disease, eventually affects speech, swallowing, chewing and breathing. When the breathing muscles become affected, ultimately, the patient will need permanent ventilatory support in order to survive. Since ALS attacks only motor neurons, the sense of sight, touch, hearing, taste and smell are not affected. For many people, muscles of the eyes and bladder are generally not affected. For the vast majority of people, their mind and thoughts are not impaired and remain sharp despite the progressive degenerating condition of the body.
Who Gets ALS
ALS is a disorder that affects the function of nerves and muscles. Based on U.S. population studies, a little over 5,600 people in the U.S. are diagnosed with ALS each year. (That's 15 new cases a day.) It is estimated that as many as 30,000 Americans have the disease at any given time. According to the ALS CARE Database, 60% of the people with ALS in the Database are men and 93% of patients in the Database are Caucasian.
Most people who develop ALS are between the ages of 40 and 70, with an average age of 55 at the time of diagnosis. However, cases of the disease do occur in persons in their twenties and thirties. Generally though, ALS occurs in greater percentages as men and women grow older. ALS is 20% more common in men than in women. However with increasing age, the incidence of ALS is more equal between men and women.There are several research studies - past and present - investigating possible risk factors that may be associate with ALS. More work is needed to conclusively determine what genetics and/or environment factors contribute to developing ALS.
Half of all people affected with ALS live at least three or more years after diagnosis. Twenty percent live five years or more; up to ten percent will live more than ten years.
There is some evidence that people with ALS are living longer, at least partially due to clinical management interventions, riluzole (Rilutek®) and possibly other compounds and drugs under investigation.
Forms of ALS
Three classifications of ALS have been described:
Sporadic - the most common form of ALS in the United States - 90 to 95% of all cases.
Familial - occurring more than once in a family lineage (genetic dominant inheritance) accounts for a very small number of cases in the United States - 5 to 10% of all cases.
Guamanian - an extremely high incidence of ALS was observed in Guam and the Trust Territories of the Pacific in the 1950's.
The most common form of ALS in the United States is "sporadic" ALS. It may affect anyone, anywhere. "Familial" ALS (FALS) means the disease is inherited. Only about 5 to 10% of all ALS patients appear to have genetic or inherited form of ALS. In those families, there is a 50% chance each offspring will inherit the gene mutation and may develop the disease.
Facts You Should Know About ALS
The onset of ALS is insidious with muscle weakness or stiffness as early symptoms. Progression of weakness, wasting and paralysis of the muscles of the limbs and trunk as well as those that control vital functions such as speech, swallowing and later breathing generally follows.
In most cases, mental faculties are not affected.
ALS is not contagious.
It is estimated that ALS is responsible for nearly two deaths per hundred thousand population annually. More people die every year of ALS than of Huntington's disease or multiple sclerosis and it occurs two-thirds as frequently as multiple sclerosis.
Approximately 5,600 people in the U.S. are diagnosed with ALS each year. The incidence of ALS (two per 100,000 people) is five times higher than Huntington's disease and about equal to multiple sclerosis. It is estimated that as many as 30,000 Americans may have the disease at any given time.
Although the life expectancy of an ALS patient averages about two to five years from the time of diagnosis, this disease is variable and many people live with quality for five years and more. More than half of all patients live more than three years after diagnosis.
About twenty percent of people with ALS live five years or more and up to ten percent will survive more than ten years and five percent will live 20 years. There are people in whom ALS has stopped progressing and a small number of people in whom the symptoms of ALS reversed.
ALS occurs throughout the world with no racial, ethnic or socioeconomic boundaries.
ALS can strike anyone.
Present treatment of ALS includes one drug, riluzole (Rilutek©) and is aimed at symptomatic relief, prevention of complications and maintenance of maximum optimal function and optimal quality of life. Most of this, in the later stages, requires substantial physical caregiving. Information on Rilutek. http://www.alsa.org/files/cms/Resources/Riluzole2.pdf
In 1991 a team of ALSA-funded researchers linked familial ALS to chromosome 21. In 1993 the research team identified a defective SOD1 gene on chromosome 21 as responsible for many cases of familial ALS. Further study indicated over 60 mutations (structural defects) in the SOD (superoxide dismutase) enzyme which alters the enzyme's ability to protect against free radical damage to motor neurons. These studies open possibilities for future therapies or strategies to effectively mediate both familial and sporadic ALS. But much more research on the SOD enzyme is needed. Also, researchers have not ruled out other gene involvement (on other chromosomes) in ALS.
There can be significant costs for medical care, equipment and home health caregiving later in the disease. It is important to be knowledgeable about your health plan coverage and other programs for which your may be eligible, including SSA, Medicare, Medical and Veteran Affairs benefits.
Rilutek®, the first treatment to alter the course of ALS, was approved by the FDA in late 1995. This antiglutamate drug was shown scientifically to prolong the life of persons with ALS by at least a few months. More recent studies suggest Rilutek® slows the progress of ALS, allowing the patient more time in the higher functioning states when their function is less affected by ALS. Rilutek® is manufactured by Aventis Pharmaceuticals. There is a patient Assistance Program that helps patients who qualify to receive the drug without charge. Many private health plans cover the cost of Rilutek®. Contact your local ALSA Chapterhttp://www.alsa.org/community/chapters.cfm or the National Officehttp://www.alsa.org/alsa/contact.cfm for the Patient Assistance Program resource and more information about access to Rilutek®.Reports from three separate patient databases described long range experience with Rilutek®. All three reports suggest a trend of increasing survival with Rilutek® over time. More studies that are double blind and controlled are needed to confirm these database observations. The trend appears to indicate that longer periods of time than those used in the Rilutek® clinical trials may be needed to see the long-term survival advantage of the drug. An interesting observation was that despite the fact that the Irish government provides Rilutek® free of charge to people in Ireland with ALS, only two-thirds of the patients registered in the Ireland national ALS database reported taking Rilutek.
