ALS 1996 and Beyond: New Hopes and Challenges
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ALS 1996 and Beyond:
New Hopes and Challenges
A manual for patients, families, and friends
Fourth Edition, 2007
Carmel Armon, M.D., M.H.S.
Loma Linda University Medical Center • 11234 Anderson Street • Loma Linda, CA 92354
1-877-LLUMC-4U • www.wehaveonemission.comForeword to 1st Edition (1996) Message of Hope
The next few years promise to be exciting and challenging for patients with ALS because of the development
ALS may rob you of your body. It does not rob you of your soul. You live in a society that emphasizes patient
of treatments that may slow the progression of the disease. Ongoing research in ALS is constantly yielding new
results. In this manual, I do not attempt to review new directions in ALS research, but rather, focus on the autonomy. You will be able to maintain yours. While embarking on a difficult endeavor, you are not going alone.
implications of the disease for the patients and their families. Families and friends come closer. You will discover new friends. Other patients are available and willing to share
in the ups and downs of the journey. There are many dimensions to treatment and many professionals available
ALS is not an easy disease to have. Writing about it is not easy, and reading about it won’t be. I suggest that you to provide it. The resources available to patients are without precedent.
do not try to read this manual in one sitting. Instead, familiarize yourself with its contents and then read sections
at your own pace or as they become relevant to you. This is not a self-help book or a do-it-yourself manual on how
You continue to be a valued member of society who can contribute to your family and your friends through the
to take care of yourself with ALS. Reading it cannot replace consultation with your doctor and with professionals
who have a special interest in caring for patients with ALS. human values in which you believe. You continue to play a role in educating your children and providing support
to your family. Due to the intense interest in patients with ALS, the options available to you exceed those that
I hope that reading this manual will provide you with strength and encouragement. Strength from understanding were available to previous generations and are expected to increase.
the specifics of the challenges you may need to face. Encouragement from knowing that many patients have
found that even as the disease has taken its physical toll, their spirits have remained firm, surrounded by the love While no one has chosen this path, most have traversed it with courage and with dignity.
of their families and those who care for them.
I would like to thank the many patients, families, friends, physicians, and other concerned people who have
reviewed this manual for its readability and to express my gratitude to my colleagues and my patients for teaching
me what I know about ALS.
Carmel Armon, MD, MHS May 1996
11 Years Later (2007)
Before the first edition of this manual appeared, there appeared to be a dearth of publications of intermediate
length, that were targeted to patients and their families. This situation has changed considerably. References to For more information, you may contact:
comprehensive patient-oriented publications that have appeared since 1996 are provided at the end of the present
edition. However, most aim to provide more detail than can be absorbed at an initial reading. I was motivated Amyotrophic Lateral Sclerosis Muscular Dystrophy Association
to produce this fourth edition by my perception of a continued need for a manual of this length that focuses (ALS) Association ALS Division
on patients early in the process of being introduced to ALS, and on their families. The chief development in 21021 Ventura Boulevard #321 3300 East Sunrise Drive
treatment philosophy over the past ten years has been greater appreciation of the role of systematic amelioration
Woodland Hills, CA 91364 Tucson, AZ 85718
of the consequences of the disease in assuring better quality of life for patients and, in some instances, extending
their survival. All other things being equal, patients who are well-supported, have access to a motivated treatment 800-782-4747 520-529-2000
team, and are able and willing to follow through with the treatment recommendations tend to do better. This www.alsa.org als.mdausa.org
manual remains dedicated to my patients and colleagues, from whom I continue to learn about ALS.
Patient Programs and Services Coordinator Baystate ALS Patients’ Clinic
Carmel Armon, MD, MHS August 2007 Loma Linda University Department of Neurology 3300 Main Street, Third Floor
11370 Anderson Street, Suite 2400 Springfield, MA 01199
Loma Linda, CA 92354 Phone 413-794-7282
909- 558-2037 Fax 413-794-7297Contents
FOREWORD. ................................................................................................................................................................................................................................................................... Inside Front Cover
ALS: THE DISEASE AND ITS IMPACT
What is ALS?........................................................................................................................................................................................................................................................................................................................... 3
Who Gets ALS?.................................................................................................................................................................................................................................................................................................................... 4
What Causes ALS?........................................................................................................................................................................................................................................................................................................... 4
When is ALS Suspected? How is it Diagnosed?........................................................................................................................................................................................................................ 5
Suspected, Possible, and Probable ALS - What Does this Mean?.......................................................................................................................................................................... 6
Stages of ALS.......................................................................................................................................................................................................................................................................................................................... 7
The Diagnosis of ALS - Psychological Impact. .............................................................................................................................................................................................................................. 9
Impact on Patient.................................................................................................................................................................................................................................................................................................... 9
Impact on Family. ................................................................................................................................................................................................................................................................................................10
Impact on Friends................................................................................................................................................................................................................................................................................................10
Should You Get a Second or Third Opinion?................................................................................................................................................................................................................................ 11
Economics of ALS.......................................................................................................................................................................................................................................................................................................... 11
TREATMENTS FOR ALS
Education...................................................................................................................................................................................................................................................................................................................................13
Managing the Symptoms........................................................................................................................................................................................................................................................................................13
Spasticity.........................................................................................................................................................................................................................................................................................................................13
Physical Therapy and Occupational Therapy....................................................................................................................................................................................................................13
Assistive Devices.................................................................................................................................................................................................................................................................................................. 14
Speech and Communication................................................................................................................................................................................................................................................................... 14
Swallowing Difficulties and Nutritional Support........................................................................................................................................................................................................... 14
Management of Saliva.....................................................................................................................................................................................................................................................................................15
Sleep Disturbances. ...........................................................................................................................................................................................................................................................................................15
Respiratory and Ventilatory Support.............................................................................................................................................................................................................................................15
Pharmacological Treatments of Mood and Emotional Changes.................................................................................................................................................................. 17
Psychological Support and Support Groups. ........................................................................................................................................................................................................................18
Treatments to Slow the Progression of ALS...................................................................................................................................................................................................................................18
SPECIAL ISSUES IN ALS
Role of the Primary Caregiver......................................................................................................................................................................................................................................................................... 20
Role of the Physician.................................................................................................................................................................................................................................................................................................. 20
Role of ALS Centers................................................................................................................................................................................................................................................................................................... 20
Participation in Clinical Trials..........................................................................................................................................................................................................................................................................21
End of Life Decisions and Hospice Care...........................................................................................................................................................................................................................................21
Further Reading (Selected References).............................................................................................................................................................................................................................................. 23
MESSAGE OF HOPE............................................................................................................................................................................................................................................... Inside Back CoverALS: The Disease and its Impact
ALS 1996 and Beyond:
New Hopes and Challenges
A manual for patients, families, and friends
Fourth Edition, 2007
Author: Carmel Armon, M.D., M.H.S. What is ALS?
ISBN 0-9655186-0-4 Amyotrophic Lateral Sclerosis (ALS) is a progressive
and, ultimately, fatal disease in which the patient’s
Published by the Department of Neurology, Loma Linda University School of Medicine, Loma Linda, California. muscles gradually weaken and deteriorate (atrophy).
First Edition - May 1996
Second Edition - October 1996 ALS usually begins in one region of the body and
Spanish Translation – (Rafael Alvarez Velderrain) June 1999 spreads to adjacent regions until the entire body
Third Edition - November 1999 is involved. Sometimes, it may appear to begin
Spanish Translation – (Rafael Alvarez Velderrain) June 2000, edited December 2001 by everywhere at once. As the muscles waste away,
Loma Linda University Medical Center, Department of Marketing, and posted on: www.llu.edu/llumc/neurosciences/als/spanish.html
they often become stiff (spastic). The amount
Fourth Edition – August 2007
of wasting and stiffness varies from patient to
Printed in the United States of America patient. The muscles responsible for speaking,
swallowing, and breathing are also affected by the
This manual may be found also at: www.llu.edu/llumc/neurosciences/als/ disease. Unless they elect to receive permanent
mechanical breathing support, patients die when
the muscles used for breathing can no longer do
their job. This happens, on the average, three years
after the clinical onset of the disease. Therefore,
half the patients, survive more than three years.
Stephen Hawking, the British physicist who was
diagnosed with ALS when he was 21 years old,
has lived with it for over 40 years: however, he is a
rare exception.
The reason that muscles shrivel away and stiffen in
ACKNOWLEDGMENTS AND WAIVER OF COPYRIGHT ALS is that there is simultaneous progressive loss of
the two types of nerve cells, known as motor neurons,
This manual was prepared by Carmel Armon, M.D., M.H.S., Department of Neurology, Loma Linda University School of Medicine, which make the muscles work (Figure 1). The first
Loma Linda, California*, with the help of many patients, families, professional colleagues, and friends. Stacy Turley and Monika type, or lower motor neurons, resides in two areas: in
Johnson typed (and retyped) the early editions of the manual. Lee Lesneski, RN, drew the figures. The cover of the first three the spinal cord, where they are connected directly to
editions were designed by Bates Moses, now M.D. The Loma Linda University Medical Center Department of Marketing produced the limb and spinal muscles, including the breathing
the second, third, and fourth editions.
muscles; and in the brain stem, where they are
Printing and distribution costs of the first, third and fourth editions were borne by the Friends of Loma Linda University ALS Patients’ connected directly to muscles of the face, mouth,
Fund (“Hearts for ALS”) and the Neurology Clinical Research Center. Major support to fund the printing of the second edition was and throat, including muscles that govern speech Figure 1. Diagram of a motor neuron (left) and of the
received from the Loma Linda University Medical Center Employees’ Contributions Fund. Additional support was received from the and swallowing. The muscles need the connection locations and connections of representative upper and
Center for Neurologic Study, San Diego, California, and the Loma Linda University Neurology Clinical Research Center. to lower motor neurons, not just in order to be able lower motor neurons (right).
to do their job, but also in order to live. Therefore,
This manual is provided at no cost to patients and their families while supplies last. A donation to the Friends of Loma Linda
University ALS Patients’ Fund will always be appreciated.
as lower motor neurons die and the muscles are no
longer connected to those lower motor neurons, over the lower motor neurons; this results in the
The material in this manual is not copyrighted and may be reproduced, unaltered, in whole or in part, in any form, provided that they also weaken, shrivel, and die. The second tendency of the muscles to stiffen. Although ALS
the entire text of the Acknowledgments and Waiver of Copyright is attached to it and provided that this condition is adhered to by type of motor neuron, the upper motor neuron, presents as a disease of muscle wasting, it is caused by the
anyone who receives or disseminates this material. resides in the brain. It is connected directly to the loss of the nerves that are connected to those muscles.
lower motor neurons and tells them what to do. As For this reason, another name for ALS is “motor
*Present Affiliation: Division of Neurology, Baystate Medical Center, Springfield, Massachusetts, and Tufts University School neuron disease.”
of Medicine, Boston, Massachusetts. upper motor neurons die, they exert less control
The symptoms that some patients with ALS may Who Gets ALS? for its presence. However, they require extensive have not shown an increased frequency of accidents
experience and the signs that are found on their counseling of patients, families, and potential or falls before disease onset in patients with ALS. It
neurologic examination are summarized in Table 1. ALS affects adults, and the risk of developing ALS asymptomatic carriers both before they do the test is likely that there may be many factors causing ALS
Not all patients will experience all symptoms or have increases as one gets older. Men are affected more and after its results become available. leading to a common outcome of progressive loss of
all signs. While the symptoms of motor dysfunction frequently than women. ALS is not common. Of Four additional genes that cause unusual forms of motor neurons.
are recognized best, affecting all patients with ALS, every million adults aged 18 years or older, between familial ALS in a small number of families have
a fair proportion of patients will also experience 30 to 35 develop ALS each year. A recent calculation been identified. They are inherited in a “recessive” When is ALS Suspected?
emotional and special cognitive difficulties that suggests that one in approximately every 350 men fashion. This means that affected persons need to
are part of the disease. These difficulties may have inherited an abnormal copy of the gene from How is it Diagnosed?
or 450 women has a lifetime risk of dying of ALS.
affect adversely patients’ ability to plan and relate Estimates of the number of patients with ALS in both parents; their parents and children will usually
appropriately to others. Their interactions with be asymptomatic, and the chances that their brothers ALS may be suspected whenever an individual
the United States range from 15,000 to 30,000.
caregivers and their willingness to accept treatment or sisters (by the same parents) will develop the develops gradual, slowly progressive, painless
Considered that way, ALS is not so rare.
recommendations are impaired, and their prognosis disease is one in 4. The genes responsible for ALS in weakness, or loss of function, in one or more
is worse than of unaffected patients. most affected families have not yet been identified. regions in the body, without changes in the ability
In the United States, ALS is also known as “Lou
Isolated variations have been identified in the to feel, and no other cause is immediately evident.
Gehrig’s Disease,” named after the famous baseball
genetic profile of patients with sporadic ALS with ALS is more likely to be suspected based on
player who died of the disease.
greater frequency than asymptomatic individuals. It clinical presentation alone when the disease is more
is unclear at present how these variations contribute widespread, that is, when more parts of the body are
Upper or Lower Motor Neuron Dysfunction What Causes ALS? to the development of ALS, and why most persons involved, and when upper and lower motor neuron
• Weakness
with these variations do not develop the disease. signs are present together in more regions of the
• Muscle cramps It is not known why motor neurons die in patients
These variations are not checked for routinely, and body. When the disease has progressed far in its
• Difficulties with speech and swallowing with ALS. Genetic, environmental, and age-related
based on current knowledge, are not associated with course and involves many parts of the body, it may be
• Unsteadiness factors have been considered. Most patients with
an increased risk of disease in patients’ relatives. possible to make the diagnosis based on the way the
ALS did not inherit it from their parents and will patient looks and on the findings on the neurological
Upper Motor Neuron Dysfunction not pass it on to their children. Over 90 percent
It is hoped that understanding how abnormal genes examination. However, when a patient presents with
• Stiffness (spasticity) are considered to have the “sporadic” or randomly-
or genetic variations contribute to the development the first symptoms, making the diagnosis is not
• Tendon reflexes which are brisk or occurring form of the disease. Approximately 5-10
of ALS will help not only the patients who carry straightforward. The diagnostic evaluation has two
spread abnormally percent of patients have or have had blood relatives
those genes but also other patients who develop ALS objectives. First, to determine whether there is an
• Presence of abnormal reflexes with the disease, and theirs is referred to as the
without these genetic changes. alternative explanation for the patient’s presenting
“familial” form of ALS. With some exceptions, the symptoms. Second, to determine if there is evidence
Lower Motor Neuron Dysfunction two forms are similar.
Sporadic ALS of abnormalities in areas other than those that
• Twitching muscles
While it is accepted that carrying the gene for the patient has noticed. At the time of the initial
• Reduction of muscle bulk (atrophy) Familial ALS familial ALS ultimately causes ALS, it has not been evaluation, it will be important to determine how
• Foot drop Most forms of familial ALS are inherited in a
possible to identify the causes for sporadic ALS. The long the patient has had symptoms and to confirm
• Breathing difficulties “dominant” fashion. This means that having one
best-substantiated risk factor for ALS is smoking, that they have progressed gradually. Otherwise, a
copy of an abnormal gene may result in ALS. First period of observation will be needed.
Emotional Symptoms with a 2-3-fold increased risk for developing ALS
degree relatives of patients with dominant forms of
• Involuntary laughing or crying in heavy smokers, compared to non-smokers. A role
familial ALS have a 50 percent chance of carrying When patients present early in the course of their
• Depression has been proposed for former military service and
the gene for the disease. The first gene causing disease, alternative explanations for their symptoms
for various occupational and dietary exposures. A
familial ALS to be identified has been found to are looked for using two types of tests:
Special Cognitive Changes protective role for some dietary components has
be abnormal in 20 percent of affected families.
also been proposed. These hypotheses need to be
How this abnormality causes ALS is the subject of 1. Imaging techniques such as computerized
substantiated. Patients occasionally relate the clinical
intense research. Carrying a gene for familial ALS tomographic scanning (CT), magnetic resonance
onset of their disease to specific events, such as
Table 1. Symptoms and signs which some patients with increases significantly the likelihood of developing imaging (MRI), or myelography.
ALS may have. accidents or falls. However, we know that the ALS
the disease but does not predict at what age this
disease process affects the motor neurons and the
will happen. Consequently, a carrier of the gene 2. Blood tests to look for biochemical or immunologic
cells that nurture them long before its clinical onset.
may have many years of productive life to enjoy abnormalities which may cause conditions that
Consequently, events occurring immediately before
before ALS develops. The research laboratories that mimic ALS.
its clinical onset cannot have caused it. In addition,
have worked with the known gene are able to test
careful studies using comparison groups (controls)
In addition, electromyography (EMG) is an important Some neurologists utilize a muscle biopsy to help diagnosis, there will always remain a sub-group of
tool in making the diagnosis of ALS and has three make the diagnosis of ALS. patients in whom a definite diagnosis will not be
major purposes: possible early in the course of their disease. As the
Suspected, Possible, Probable awareness of the disease increases, more patients
1. To determine that this is a disease affecting may find themselves in this situation, due to early
primarily motor nerves rather than a disease ALS - What Does This Mean? referrals to ALS specialists. In addition to the
affecting motor and sensory nerves to an equal anxiety frequently accompanying the uncertainty,
degree, or a disease of the muscles themselves. It is bad enough when your physician suspects that the chief implication for patients who are diagnosed
you have ALS. It is even worse when the diagnosis is with “Possible ALS,” and in whom other causes for
2. To look for characteristic electrical patterns of confirmed and you are told that you have “definite” their symptoms have been excluded, is that they are
muscle activity which are caused by loss of the ALS. However, some patients, either early in the not eligible, currently, for enrollment into clinical
nerve connections to the muscles (denervation) course of their evaluation or at the end of their trials of ALS. In these patients, it is necessary to
and re-establishment of such connections by evaluation, may be told that they have “possible” wait for the disease to progress before making a
surviving nerves (reinnervation). or “probable” ALS. These qualifiers cannot fail to diagnosis with a greater degree of certainty.
provoke additional anxiety and the natural question,
3. To determine how many areas of the body have “What else can it be?” When your physician uses the terms “possible” and
been affected by ALS. “probable,” you cannot be sure, unless you ask,
In order to make some sense of these qualifiers that those terms are being used according to the
The EMG test has two parts: (“possible” or “probable”), it is necessary to WFN rules because some physicians may use the
understand that they were introduced originally terms with the meanings they are given in casual
1. The first part is a series of tests called nerve by a special committee of the World Federation of conversation. Some physicians may choose not use
conduction studies. They are accomplished by Neurology (WFN) that met in El Escorial, Spain, these qualifiers when they are diagnosing patients,
administering small electrical stimuli to the skin in 1990. Its purpose was to standardize and clarify to minimize confusion.
overlying the nerves and then measuring the electrical communication between physicians taking care of
responses. The responses are measured either over patients with ALS all over the world. An important
motivation for developing the WFN classification Stages of ALS
muscles to which these nerves are connected or, in
the case of sensory nerves, at a distance along the system was to help identify patients eligible for Figure 2. The four regions or levels of the body. “Bulbar”
treatment that might modify the progression of ALS includes the muscles of the face, mouth, and throat. I have found it helpful to think of eight stages that
course of the nerves. patients with ALS and their families go through
earlier in the course of their disease. The qualifiers “Cervical” includes the muscles of the back of the head
“possible,” “probable” and “definite” reflect mainly and the neck, the shoulders and upper back, and the (Table 2).
2. The second part of the test examines the electrical upper extremities. “Thoracic” includes the muscles of
activity of the individual muscles at rest and when the findings on the patient’s clinical examination
the chest and abdomen and the middle portion of the These stages are divided into three groups, reflecting
they make small contractions. This is done by and take into consideration the results of additional
spinal muscles. “Lumbosacral” includes the muscles of the three major challenges patients and families face:
placing a thin needle in the muscles. tests. The terms refer to how many levels of the the lower back, the groin, and the lower extremities.
body are involved by ALS. For the purpose of
defining these qualifiers, there are four regions or 1. Confronting the diagnosis of a fatal condition
If the EMG findings do not support an unequivocal (Stages 1-2).
diagnosis, it may be necessary to repeat it. There are levels to the body: bulbar, cervical, thoracic, and
two reasons for this: lumbosacral (see Figure 2 for their definition). A have received a diagnosis of “possible” ALS. The
simplified explanation is that the qualifying term revised criteria allow a diagnosis of “laboratory- 2. Adapting to gradual loss of independence and
“possible” is applied when there is evidence of both supported probable ALS” to be made in some accrual of disability (Stages 3-6).
1. Changes may have happened since the previous
EMG. These changes may increase the level of upper and lower motor neuron involvement at one patients, based on meticulous exclusion of alternate
level; the qualifying term “probable” is applied causes and definite EMG abnormalities. If there 3. Facing the imminence of death and dying, and
certainty in the diagnosis of ALS. the grieving and healing of the surviving family
when the involvement is at two levels; and the term is an explanation other than ALS for the patient’s
“definite ALS” is used when there is evidence of symptoms and findings, then these terms should not (Stages 7-8).
2. Different electromyographers may use different
techniques and interpret portions of the test upper and lower motor neuron involvement at three be used at all.
or more levels of the body. Patient and family may be in more than one stage
differently from each other. Therefore, it may at one time. This reflects the fact that the impact
be difficult or impossible for one neurologist to From the practical standpoint, if alternate causes
Modest revisions to these definitions were made for symptoms and findings have been ruled out, of ALS has multiple dimensions. Specific patient
use findings from an EMG test performed by a needs may be anticipated according to the stages:
neurologist at a different location, particularly when in 1998. They affect primarily patients who are then a diagnosis of “probable” ALS has the same
the diagnosis is still in doubt. examined early in their disease, when only one significance as a diagnosis of “definite” ALS.
level is affected clinically. Previously, all would Despite these efforts to help make an early definite
needed when specific treatments to minimize the individuals who knew they had lived longer than ambitions and who have realized that “we all have
impact of the disease fail. As patients and families average,. Hence, I respond to such requests with to die of something,” are more likely to accept the
1. ALS is suspected. go through these stages, they require ongoing great care. I point out to patients that more specific diagnosis of ALS when it is given.
(Pre-diagnosis). education about what is happening and what they may prognostic information may point to their having a
2. ALS has been diagnosed. expect. Multi-disciplinary assessment may require faster than average course, or a slower than average Having said that, receiving the diagnosis of ALS
(The time of diagnosis). referrals for physical therapy, occupational therapy, course. I ask them to consider and discuss with their is a difficult process under all circumstances
speech, nutritional, respiratory, sleep disorders, and family, if they are as ready to receive bad news as and usually needs to be done in several stages.
3. Patient is virtually non-disabled; psychological evaluations. The purpose of these good news, and if so, to ask me again at a subsequent Unfortunately, an all-too-common situation is that
no help needed.
evaluations is to identify areas in which patients visit. Sometimes, rapidly progressive disease speaks the first physician who raises the possibility of
4. Patient has mild limitations; needs some are experiencing difficulties and which may be for itself, requiring that patients and families be ALS does so unexpectedly in the course of a busy
help less than 50 percent of the time. helped by supportive treatment or assistive devices prepared promptly for its next stages. Fortunately, work day without the time to deal with the many
(also see pages 13-18). In addition, they need to just as often, very slowly progressive disease can be questions about the meaning and implications of this
5. Patient has moderate limitations;
identify or organize an appropriate support system recognized as such, and patients can be reassured. diagnosis. Furthermore, most individuals, even if
needs help more than 50 percent and
consisting of primary caregiver, relatives and friends, they are physicians, are not particularly comfortable
less than 100 percent of the time.
including strong, able-bodied individuals. As the The Diagnosis of ALS - discussing issues relating to death. These are sources
6. Patient is completely disabled; requires patient approaches the stage of requiring total care, of distress for patients and families alike, which
total care. referral for home healthcare or hospice services may Psycological Impact may not be changed easily. Nevertheless, once the
7. Facing end of life decisions. be needed. possibility of ALS has been raised and the patients
Impact on Patient are now being seen especially in order to investigate
8. Dying, death, and beyond. Patients in the early stages of their disease find that The diagnosis of ALS may trigger a wide variety this possibility further, there is greater opportunity
they can keep up with most of the activities they of emotions. These emotions may include: shock, to plan enough time to deal with the meaning and
like doing, except those that require great physical denial, disbelief, anger, relief, or acceptance. impact of the diagnosis and begin the process of
strength. educating patients and families about it.
Table 2. Stages of ALS It all depends on who the patients are, where they
Stage 7: Facing end of life decisions are coming from, whether they are early or late It is very hard to receive a diagnosis of ALS. The
This is a stage which may be experienced more in the course of the disease, and whether they instinctive response, “It can’t be true,” or “Why me?”
Stage 1: ALS is suspected have seriously considered the possibility before technically termed “denial,” may be brief or, rarely,
than once by an individual patient or family: first, at
the time of diagnosis; subsequently, as the disease it was raised by the physicians who are making a permanent response. In the short term, denial
When ALS is suspected, thorough neurologic the diagnosis.
progresses; and finally, when the end of life draws may be useful by providing temporary protection
evaluation is needed to exclude other conditions and
near. These issues are covered more fully in the from the shock of the diagnosis. However, if denial
to make the diagnosis of ALS. Ordinarily, none of us wants to die. Learning that
section “End of Life Decisions and Hospice Care” continues, it may prevent patients from becoming
(pages 21-22). our demise may take place within the next few involved in dealing with the consequences of the
Stage 2: ALS has been diagnosed months or years and that, in the process, we will diagnosis, and this may not be desirable. The course
After ALS has been diagnosed, patients and gradually lose the ability to function independently which patients may take from denial to acceptance
Stage 8: Death, dying, and beyond
families need to be educated about the disease is shocking, unpleasant, and hard to believe. It has been outlined by the psychiatrist and author,
Although an individual’s death occupies a single
and to be supported as they come to grips with becomes harder to believe if we are young or young- Elizabeth Kübler-Ross. Patients may experience
moment in time, the process of approaching it and,
its implications. The process of education can be at-heart. It is even harder to believe if we receive the feelings of anger and of depression. They may enter
for the family, continuing beyond it may extend
accomplished in many ways (see Treatments for diagnosis with most of our body still working. a phase of bargaining with themselves, with their
over weeks, months, and years. These issues are
ALS - Education, page 13). As part of this process, physicians, or with God. For example, they may
not unique to patients with amyotrophic lateral
patients may consider obtaining a second opinion In contrast, receiving the diagnosis of ALS may be hope that “another diagnosis will turn up” or “maybe
sclerosis.
from a neurologist with special interest in ALS. perceived as a source of relief for patients who have my rate of progression will be particularly slow.”
Most patients derive support and reassurance from been getting progressively weaker or disabled and One of the most effective ways to advance in the
access to a physician or nurse experienced in treating
Individualized Prognostic Information
have been told, “We don’t know what’s wrong with direction of acceptance is requesting confirmation
Each patient has an individual rate of progression
patients with ALS. you,” because such a situation is, in itself, a source of the diagnosis, or a second opinion, preferably
through the stages of the disease. Consequently,
of anxiety. The patients know that they are getting from a neurologist with experience and interest in
some patients ask to receive individualized
Stages 3-6: ALS progresses weak and losing ground; giving the condition a name ALS. Specifically, this process provides additional
prognostic information. However two surveys that
The specifics of disabilities patients may encounter provides the patients and the families something opportunity to be educated about the disease.
I conducted among patients who had lived longer
as their disease progresses are covered under to relate to and enables them to regain control However, obtaining a second opinion is not a cure for
than average suggested ambivalence about receiving
Treatments for ALS - Managing the Symptoms and redirect their lives accordingly. Patients in the feelings of rage, anger, or depression.
more specific prognostic information, even among
(pages 13-18). However, the help of others will be later years of life, who have fulfilled most of their
The psychological impact of the diagnosis extends The strain on the primary caregiver for a patient contact the physicians) rather than burdening the quality health insurance. Limited financial resources
beyond the patients’ worry for themselves. Invariably, with progressive chronic disease is well recognized. patients with them. compound the difficulties faced by patients with
there are concerns for the family, concerns about While support groups for caregivers are important ALS and their families. However, patients and
being a burden to the family, concerns about the by enabling them to share and gather strength from Overall, in the course of a disease such as ALS, the families should explore their options, regardless of
financial implication of the disease, and concerns each others’ experiences, a more practical solution support of family and a circle of friends can help their financial situation.
about “how will they manage without me?” A fair is the establishment of a schedule of support, lighten the load of a difficult journey by distributing
number of patients find that sharing these concerns whereby the primary caregiver receives frequent its burden. It will not be possible for patients to buy life
with others, be they patients or professionals, is breaks and so does not become the only caregiver. insurance or disability insurance after they have
an effective way of coming to grips with them This is a responsibility that needs to be borne by Should You Get a Second or been diagnosed with ALS. However, if patients
and developing solution-oriented strategies. Others extended family, friends, and members of social already have such insurance, they should keep it.
prefer to “go it alone.” Patients may become or religious organizations. All too often patients Third Opinion? It is often not possible to change health plans after
depressed. I believe that it is appropriate to and families are reluctant to accept this type of receiving a diagnosis of ALS. While the old plan
receive pharmacological treatment and counseling help, but it is important to avoid exhaustion of Getting a second opinion gives you a chance to have will be happy to let the patients go now that they
for depression, regardless of its cause, because it the caregiver. Regular participation in clinic visits your condition reviewed by a physician with special are about to start consuming health resources, the
shortens the duration and severity of the depression. by family members in addition to the primary interest and with experience in making the diagnosis new plan may not be eager to accept them. All
On occasion, individuals have expressed reluctance caregivers supports patients and primary caregivers and taking care of patients with ALS. plans are not equal, and the less expensive plans
to follow this course because they felt that it was and helps implement treatment recommendations. usually provide less options. Here are some of the
“natural” to be depressed, having learned of their On occasion, the initial diagnosis of ALS turns options that are available: For patients with personal
diagnosis or having witnessed the progression of Impact on Friends out to be incorrect. The precise percentage of resources, it may not be unreasonable to spend some
their disease. See also Pharmacological Treatment A diagnosis of ALS comes as a shock to the patients’ patients who were thought to have ALS and were of them on obtaining the best diagnosis, evaluation,
of Mood and Emotional Changes (pages 17-18) friends. Responses vary - some will run away, some subsequently diagnosed with a different condition and treatment affordable. Patients with no resources
and Psychological Support and Support Groups will draw closer. There is nothing like a crisis to varies and depends on how well-founded the at all may be eligible for Medicaid (California -
(page 18). bring out the best in your true friends. While some original diagnosis was. Since some of the alternative Medi-Cal). Patients over 65 are usually covered by
patients may enjoy educating their friends about the conditions may improve with specific treatment, Medicare. In addition, as of July 1st 2001, patients
A point of encouragement is that the overwhelming details, causes, and outcome of amyotrophic lateral it is advantageous to have them diagnosed. Even with ALS who are found eligible for social security
majority of patients and families alike come to terms sclerosis, many may not. After a while, it becomes if a different diagnosis is not made, many patients disability benefits (SSDI) do not have to wait 24
with the diagnosis and achieve a sense of closeness tedious and possibly a source of discouragement to derive reassurance from the opportunity to discuss months to qualify for Medicare benefits. Since
as they face its challenges together. explain how one is going to die. Consequently, it the diagnosis with someone who has special interest processing the applications may take several months,
is helpful if friends educate themselves rather than in their condition and has seen many patients with it is important to apply as soon as the diagnosis of
Impact on Family look to the patient and family to educate them. it. It is reasonable to consider getting a third opinion ALS has been made. However, Medicare does not
A diagnosis of ALS is an unpleasant shock, not if there is a conflict between the first two opinions cover all costs, and different Medicare plans may
only for the patients, but also for their families. Friends can help by offering to do things that they you have received, or if you feel that you still do vary. Clinics of county hospitals are available to
Family members may experience any of the range would do anyway, such as visiting or going out not have a good understanding of your diagnosis patients who lack the means to pay even though
of emotions experienced by the patient, but each together. Friends can help by offering to do specific or what you may expect. If you choose to seek they do not qualify for Medicaid. Some ALS centers
family member may respond differently and with tasks, including giving primary caregivers some time additional opinions, you should be prepared for a are sponsored by charitable organizations to provide
a different time frame. It is not at all unusual for off so that they can get out for a while. sense of disappointment if the original diagnosis is some diagnostic and treatment services to patients,
family members, particularly spouses, to take the confirmed. Nevertheless, even physicians who have regardless of the ability to pay. Other centers
diagnosis much harder than the patients. This Some friends, understandably, have difficulty in been diagnosing ALS for a long time recognize that may have alternate mechanisms for providing some
presents a problem, particularly when families resist accepting the implications of a diagnosis of ALS. on occasion they have been wrong, and rejoice in services to individuals with limited means who live
receiving help or counseling from people outside of They bombard the patients with all sorts of ideas any instance in which one of their patients has been in their immediate communities. Patients will need
the family, because then the patients need not only and pathways to explore. Some of these ideas may found to have a reversible condition. to ask about these possibilities.
to deal with their own fears and emotions in the face be outside of conventional medical practice and even
of the diagnosis, but also to be sources of support to do more harm than good. Furthermore, it is not Economics of ALS The impact of the cost of treatments, which may slow
their families. While some patients may rally to this fair to patients who have accepted the course and disease progression, cannot be judged at this time.
task and find that comforting family and friends is outcome of their condition to have their hopes raised Access to financial resources helps face the challenges There will be significant dilemmas for patients who
their way of coping, many may find it very difficult by well-meaning friends in order for them then to be of ALS. Money removes barriers to diagnosis, are required to pay out of pocket even though it is
or impossible to be constantly on the giving end of dashed by their physicians. It is, thus, more humane second opinions, and treatments. Individuals with expected that all pharmaceutical companies will have
support at a time when, by rights, they should be on if such friends discuss their ideas with the patients’ greater resources also tend to be individuals who programs for people with limited means. Patients
the receiving end. physicians (after obtaining the patients’ consent to carry life insurance, disability insurance, and good with some means, though not unlimited means, and
10 11Treatments for ALS
without insurance coverage for medications may best way to maximize the care they receive. Due to
need to make a value judgment as to whether the the complexity of these issues and the exhausting
cost of the treatment is worth its reported benefits. aspects of having to navigate bureaucracies while
It is disturbing that patients who need to pay for the affected by ALS, or caring for someone with ALS,
treatment out of their own pocket are required to it is highly recommended that individuals other than Education Managing the Symptoms
perform such a cost/benefit analysis. However, this the patients or their primary caregivers spearhead
situation is not unique to patients with ALS. The these efforts. Education is the key to patient empowerment Spasticity
advent of treatments that slow disease progression and patient autonomy. Education is an ongoing Spasticity, or excessive stiffness of muscles, is a
will result in an increase in the overall cost of care of In addition to the direct medical costs of having ALS, interactive process. It is impossible to learn limiting factor in a minority of patients; however, it
patients with ALS to society even if patients pay for there are many non-medical costs which patients everything about ALS in a single day. Even if many is one that often can be treated effectively. Several
their own treatment. These are resources that the with ALS incur. They include: loss of income of the consequences of the disease are discussed at effective oral medications are available, and may
patients or survivors cannot use for other purposes. through becoming disabled for those whom the the time the possibility is first raised, it is usually not be useful to help alleviate stiffness of limb or
To the extent that many patients will not be paying disease strikes while they are still in their working possible to cover all possible outcomes at that time. spine muscles, as well as impaired speech if the
for their own treatment, society will be asked years; loss of income of primary caregiver; costs For motivated patients and families, there are at least upper motor neuron component is the predominant
to carry this cost and will need to make a value of alternate caregivers to relieve primary caregiver eight sources of information: cause of impairment. The chief side effect of these
judgment as to whether it does so with less or more if volunteers are not available; costs of equipment medications is that they make some patients drowsy.
grace. I expect that if frictions with society develop, not covered by insurance; costs of modifications of 1. Their own physician. Hence, they need to be started in low doses and
they may arise at the level of insurance companies, patients’ homes to accommodate wheelchairs and 2. A physician or nurse with experience and interest increased till the desired effect is achieved, or they are
HMOs, and managed care organizations. Whereas hospital-type equipment or to enable movement up in caring for patients with ALS. found not to be tolerated. A second limitation is that
some truly live up to their promise of providing and down stairs; and costs of food supplements. 3. Patient-oriented resource material provided by in some patients the stiffness helps in maintaining
excellent care for all, others fall short. Patients national organizations such as the ALS Association lower extremity function, and alleviating it causes the
within an organization that is limiting their access These non-medical costs probably exceed the direct or the Muscular Dystrophy Association (See inside legs to give out. Careful titration of the medication
to care will need to be their own advocates. The medical costs for most patients and are harder to bear back cover for regular and web-based contact doses is needed. In rare instances, patients with
squeaky wheel gets the grease. Change of insurer for those with fewer resources. information) slowly progressive disease in whom stiffness is
or health plan may be difficult after they have been 4.Internet only web sites, such as www.wfnals. the predominant component have benefited from
diagnosed even if it may be to their advantage to do Patients and families who lack individual resources are org (established by the WFN subcommittee on implantation of a pump that delivers treatment
so. This area changes constantly; therefore, more encouraged to explore the options for help available ALS). directly into the spinal fluid (intrathecal baclofen).
specific advice cannot be given. It is recommended in their immediate communities: local charitable or 5. Handbooks or manuals written by experts in the The pharmacological treatment of stiffness needs to
that patients and families be vigilant and check the religious organizations may have programs to help in field of ALS (See Further Reading - Selected be coupled with appropriately tailored exercises.
options available to them. Whatever health plan sharing the burden a disease such as ALS imposes on References)
patients are operating within, self-advocacy is the patients and families. 6. Other patients. Physical Therapy
7. Support groups. and Occupational Therapy
8. Medical libraries: some have special, patient- Physical therapy and occupational therapy have
oriented materials. four possible roles in the treatment of patients
with ALS:
A patient-oriented manual, such as the one you are
reading now, can attempt to address some questions 1. As some muscles weaken and others become stiff,
but not all. Hopefully, it may serve as the basis it is possible to develop a program of exercises to
for your dialogue with your own physician, family, maintain the range of motion of the patients’ limbs.
and friends. A potential source of frustration for This will enable them to use their remaining
patients and families who are attempting to educate capabilities to the best extent by preventing
themselves about ALS is that the information they permanent shortening of tendons, which would
read may not be the information that they want to leave the joints fixed in a bent position, or limited
read. Furthermore, when there are many sources in their range of motion, and possibly painful.
of information, there may be discrepancies and
inconsistencies. Therefore, I emphasize that seeking 2. Assessment for safety in standing, walking, or transfers,
and obtaining information is not intended to replace and providing instruction and training for patients and
a relationship with your own physician. caregivers to perform those activities safely.
12 13You can also read
