Help for Patients and Caregivers : ALS
Amyotrophic Lateral Sclerosis (ALS), also called Lou Gehrig's Disease or Motor
Neuron Disease, is a progressive, neuromuscular disease that attacks nerve cells
and pathways in the brain and spinal cord. Motor neurons, among the largest of
all nerve cells, reach from the brain to the spinal cord and from the spinal
cord to muscles throughout the body. When these motor neurons die, the brain can
no longer start and control muscle movement. At this time there is no cure for
the disease; however, over the past decade, we have made amazing strides in our
understanding of the brain, the nervous system and genetics. Discoveries in each
of these areas bring hope to people with ALS (PALS) and their families that some
day a cure will be found.
Amyotrophic comes from the Greek language. "A" means no or negative. "Myo"
refers to muscle, and "trophic" means nourishment--"no muscle nourishment." When
a muscle receives no nourishment, it atrophies or wastes away. "Lateral"
identifies the areas in a person's spinal cord where portions of the nerve cells
that nourish the muscles are located. As this area degenerates, it leads to
scarring or hardening ("sclerosis") in the region. As more and more nerves and
muscles are affected, the person with ALS loses the ability to move, eventually
suffering complete paralysis. The muscles used for breathing, speaking and
swallowing also become affected. ALS does not affect the person's mind, senses
(feeling, tasting smelling etc.), bladder and bowel function or sexual drive and
function.
Who gets ALS?
There are 30,000 people living with ALS in the United States and approximately
6,000 Americans are newly diagnosed with ALS each year. Symptoms usually appear
in individuals between the ages of 45-65, though the disease has been reported
in both younger and older persons. Survival after the confirming diagnosis is,
on average, two to five years. The progression of ALS varies with each
individual. Ten percent of those diagnosed with ALS live for ten years or more.
Family caregivers, physicians, nurses, physical therapists, speech
therapists/pathologists, occupational therapists and social workers all working
together with the person with ALS can help ensure a high quality of life and as
much independence as possible.
ALS occurs more frequently in men than in women. For 90-95% of all ALS cases,
there is no known cause. These cases, which appear to occur at random, are
referred to as sporadic ALS. Between 5-10% of ALS cases are inherited.
This genetic form of ALS is known as familial ALS. Sporadic and familial
ALS do not differ in symptoms or progression. ALS is not contagious.
Symptoms
Some patients become aware of the onset of the disease when their hands become
clumsy, causing difficulty in the performance of tasks like unlocking doors or
writing. Others experience weakness in the legs and may trip or stumble. Other
people notice they have problems speaking or difficulty swallowing. ALS may be
present for some time before any symptoms are noticed. This lack of noticeable
symptoms occurs because the remaining functioning nerve cells compensate for the
lost or damaged nerve cells. One early symptom is generalized fatigue. As muscle
cells deteriorate, patients may experience stiffness, occasional jerking of the
arms or legs, or twitching (fasciculations). Often symptoms begin in the hands
and feet, then travel inward toward the center of the body. One side is usually
more affected than the other. Eventually paralysis may be complete, except for
the muscles of the eyes.
Diagnosis
There is no specific clinical test that can identify ALS. Diagnosis is made by a
neurologist through a physical examination, a thorough patient medical history,
and neurological testing. Diagnostic testing often includes the electromyogram
(EMG) to test muscle activity, CT Scan or MRI (Magnetic Resonance Imaging), and
extensive blood work. Sometimes muscle and/or nerve biopsies are performed. The
diagnostic process involves ruling out other potential causes of the symptoms
the person is exhibiting. Because there is no conclusive test, people may find
themselves with a diagnosis of probable or possible ALS until
further identifying symptoms appear.
A diagnosis of ALS can be devastating to both the individual and the family.
Anger, denial, fear, and a sense of loss are common reactions. For those who
have been through a lengthy diagnosis process and the anguish of not having a
diagnosis, finally knowing that they have ALS may actually bring a feeling of
relief.
Treatment and Management of ALS
The Physician's Role
The American Academy of Neurology has established guidelines for physicians
treating individuals with ALS. These are based upon the following four
principles:
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Patient self-determination and autonomy are priorities; however, the way in
which care and information are delivered to the person with ALS and/or his or
her family should take into account the social, psychological and cultural
background of the family. For example, in some instances the patient may prefer
not to know the diagnosis and/or prognosis and the family may appoint someone
else as medical decision-maker.
-
Physicians should provide the family with information well in advance of the
time that decisions will have to be made regarding treatment options. Everyone
involved should understand that decisions may change over time.
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Caring for a person with ALS requires a coordinated effort among many people
including family caregivers, therapists, nurses, and physicians. The physician
should be responsible for ensuring the coordination of care from the time of
diagnosis to the last stages of the disease.
-
A Living Will (Advance Directives, Power of Attorney for Healthcare) defining
the treatment preferences of the person with ALS can be an excellent tool for
communication among the person with ALS, the family, and the medical care team.
However, this document should be reviewed every six months to reflect possible
changes in preferences. This can often be a difficult topic and the physician
should help by offering the family a chance to talk about it and to review it.
In preparation, the physician should provide the family with information about
the terminal phases of the disease.
Helping people with ALS and their families requires empathy and sensitivity on
the part of everyone involved.
Drug Treatment
In 1995, the FDA approved riluzole (Rilutek) the first and only drug for the
treatment of ALS. Clinical trails of riluzole showed that the drug had a modest
effect (2-3 months) on slowing the progression of ALS. Researchers continue to
conduct clinical trails of potential new treatments for ALS. People with ALS
(PALS) may want to discuss with their physician the option of participating in a
clinical trial.
Approximately 50% of those affected by ALS may exhibit uncontrollable laughter
or crying. This is referred to as psuedobulbar affect. Depression can
also be a symptom. Some PALS experience Sialorrhea, drooling. All of
these symptoms (depression, uncontrollable laughing/crying, and drooling) can be
treated with medications and should be brought to the attention of the
physician.
Living with ALS
While it is true that there is no cure for ALS, much can be done to help the
person live with the disease. Treatment aimed at relieving symptoms can be very
effective. Generally, people with ALS should continue their usual daily
activities, stopping before they become fatigued. They should be encouraged to
set their own limits of exertion, and to plan how they will use their energy and
strength. The physician will probably suggest exercises, including breathing
exercises, to strengthen unaffected or less-affected muscles. These exercises
are not vigorous or tiring, but are intended to help maintain mobility and
prevent joint stiffness and muscle contracture.
There are a wide variety of assistive devices for enhancing the quality of life
for the person with ALS:
Mobility
By working with physical and occupational therapists, PALS and their caregivers
can identify appropriate devices to help maximize independence and reduce
caregiver strain as changes in mobility occur. Braces, canes and walkers can
help PALS maintain indepen-dent mobility for as long as possible. As the disease
progresses, wheelchairs, lifts and other special equipment can enable PALS and
their caregivers to work as a team to keep the person with ALS connected to the
world around them and to ensure appropriate care.
Communication
A speech therapist can help PALS maintain their speaking ability for as long as
possible; however, the loss of speech does not mean the loss of the ability to
communicate. Assistive communication devices, from simple boards to
sophisticated electronic devices and computer applications, permit communication
even into the latest stages of ALS. Rapid advances in technology have resulted
in products that dramatically increase the independence of people with very
limited mobility, allowing them to "speak," operate lights and other controls,
and remain contributing members of their families and communities. As of January
2001, Medicare policy was changed to include coverage of many of these
communication devices.
Breathing
As muscles weaken, breathing becomes more difficult and less effective in the
person with ALS. Individuals may find that they have problems sleeping, wake up
feeling tired or wake up with a headache. Several options exist for individuals
whose breathing becomes inadequate.
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Several non-invasive options for helping breathing exist. One of the most
frequently used is called a BiPAP (biphasic positive airway pressure). The
person with ALS wears a mask over his or her nose at night connected to the
BiPAP, which helps increase the flow of air into and out of the lungs.
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When the person requires more help breathing than can be offered with any of the
noninvasive methods, a permanent ventilator can be used. The ventilator then
does the person's breathing for him or her. This option can prolong the life of
a person with ALS but it increases the need for care and the cost of care. The
willingness and availability of caregivers can impact this decision.
Deciding whether or not to use the various types of assistive breathing devices
will be one of the hardest decisions PALS and their families need to make.
Preferences regarding breathing support should be discussed with the physician
and included in the Advanced Directives.
Nutrition
It is important for people with ALS to receive proper nutrition and to maintain
a normal weight. As problems with swallowing develop, food can be processed to
make it easier to swallow. A nutritionist or registered dietitian and speech
therapist or speech pathologist can help develop strategies to ensure that the
person is receiving enough nutrients, calories and fluids. If the person is not
getting enough food, or if choking and food inhalation become a problem, he or
she may want to consider a feeding tube. The tube, referred to as a PEG, is
surgically inserted into the person's stomach. Food goes through the tube and
enters the stomach directly. This can be another very difficult decision for
PALS and their families. Preferences regarding the placement of a PEG should be
discussed before the need arises and included in the Advanced Directives. As
with all treatment decisions, they should be reviewed periodically.
Gathering the appropriate resources to meet the challenges of ALS can be
financially difficult for many families. Both the Amyotrophic Lateral Sclerosis
Association (ALSA) and the Muscular Dystrophy Association (MDA) have programs
through which people with ALS can borrow assistive devices and equipment that
they might otherwise not be able to afford.
Reaching Out
It is important that the person with ALS and his or her primary caregiver get
the information and support they need. Financial, emotional and caregiving
challenges can take their toll on PALS and their caregivers. Preparing for
upcoming changes, establishing good communication with the physician and other
medical team members, and pulling together a supportive community of family,
friends, and social service professionals will help ensure the highest possible
quality of life. While the care needs of PALS can be intense, caregivers must
also be aware of their own needs for respite, rest and emotional support. A
diagnosis of ALS does not mean an end to enjoyment. PALS and their caregivers
will find that they continue to laugh, to find joy in their lives and to gain
strength from the love of their families and friends.
Credits
Miller, R. G. et al (1999). Practice Parameter: The Care of the Patient
with Amyotrophic Lateral Sclerosis (an Evidence-Based Review). Neurology,
vol. 52, pp. 1311 - 1323.
National Institute of Neurological Disorders and Stroke (2000). Amyotrophic
Lateral Sclerosis Fact Sheet. National Institute of Neurological Disorders and
Stroke, Silver Spring, MD.
Resources
Books and Pamphlets
Amyotrophic Lateral Sclerosis: A Guide for Patients and Families, 2nd
Edition (2000) by Hiroshi Mitsumoto and Theodore L. Munsat, $34.95.
Published by Demos Medical Publishing Inc., 386 Park Ave S # 201, New York, NY
10016, Phone: 212-683-0072.
Journeys with ALS: Personal Tales of Courage and Coping with Lou
Gehrig's Disease (1998) compiled by David Feigenbaum, $24.95 (including
shipping). DLRC Press, P.O. Box 61661, Virginia Beach, VA 23466, (800)
776-0560, dlrc@concentric.net.
Living with ALS. A series of six manuals for people with ALS, their
families and caregivers. Published by the ALS Association. Available free to
people with ALS, their families and professionals by calling 800-782-4747 or
e-mailing alsinfo@alsa-national.org
Web Resources
(See additional links under Organizations)
ALS Digest
An e-mail newsletter by Bob Broedel. To subscribe, send an e-mail to bro@huey.met.fsu.edu.
ALS Survival Guide
www.lougehrigsdisease.net
International Alliance of ALS/MND Associations on the Internet
www.alsmndalliance.org
Organizations
Family Caregiver Alliance
180 Montgomery Street, Suite 1100
San Francisco, CA 94104
(415) 434-3388
(800) 445-8106
www.caregiver.org
info@caregiver.org
Family Caregiver Alliance (FCA) seeks to improve the quality of life for
caregivers through education, services, research and advocacy.
FCA's National Center on Caregiving offers information on current social, public
policy and caregiving issues and provides assistance in the development of
public and private programs for caregivers.
For residents of the greater San Francisco Bay Area, FCA provides direct family
support services for caregivers of those with Alzheimer's disease, stroke, ALS,
head injury, Parkinson's and other debilitating brain disorders that strike
adults.
ALS Association (ALSA)
27001 Agoura Road, Suite 150
Calabasas Hills, California 91301-5104
(818) 880-9007
(800) 782-4747
www.alsa.org or
www.alsabayarea.org
(San Francisco Bay Area Chapter)
alsinfo@alsa-national.org
Forbes Norris ALS Research Center
California Pacific Medical Center
2324 Sacramento Street
San Francisco, California 94115
(415) 923-3604
The ALS Center at UCSF
350 Parnassus Avenue, Suite 500
San Francisco, CA 94117
(415) 476-1986
Les Turner ALS Foundation
8142 North Lawndale Avenue
Skokie, Illinois 60076-3322
(847) 679-3311
(888) ALS-1107
www.lesturnerals.org
info@lesturnerals.org
The Muscular Dystrophy Association (MDA)
3300 East Sunrise Drive
Tucson, Arizona 85718-3208
(520) 529-2000
(800) 572-1717
www.mdausa.org (Their web
site includes information on ALS in Spanish.)
National Institute of Neurological Disorders and Stroke
Building 31, Room 8A-06
31 Center Dr., MSC 2540
Bethesda, MD 20892-2540
(800) 352-9424
www.ninds.nih.gov