To the uninitiated, a first read-through of the symptoms of
Huntingtonís disease is reminiscent of the behaviors of very early
childhood. Those afflicted with what is sometimes also called
Huntingtonís chorea eventually canít walk or communicate the way
they once did. They need help eating and drinking and even toileting
and become dependent on others for almost everything. But a deeper
read promises heartbreak that only the caregivers of those with this
hereditary disorder and the patients themselves can truly
understand; for in spite of the fact that those living with
Huntingtonís disease are as needy as our own young, they are also
completely coherent all the way to the end of life. They know whatís
happening but thereís nothing they can do about it. Whole inside but
prisoners of their own bodies, they yearn to communicate but canít.
They understand whatís being said but canít always reply. They try
to walk and carry on but instead stumble or fall or even become
confined to wheelchairs. The indignity of the disease can cancel out
pride, self-esteem and joy, and it is the wise caregiver who learns
early-on the importance of compassion, of reaching out to another
who is intellectually an equal but physically, verbally and
emotionally has once again been relegated to infancy.
First described by Dr. George Huntington in 1872, Huntingtonís
disease is now considered a fairly common genetic disorder. Passed
from parent to child in a genetic mutation of a normal gene
discovered in 1993 called the Huntington gene, the disease is
egalitarian, affecting as many men as women and no more prevalent in
one race or ethnicity than another. While onset is most common
between the ages of 30 and 45, some are afflicted as early as age
two. (Children living with Huntingtonís disease rarely live to
adulthood.) The sobering facts are these Ė children of parents who
carry the gene have a 50/50 chance of inheriting it, and those who
have the gene will develop the disease. There is no question or
possibility otherwise, and the disease is fatal. Over time,
Huntingtonís disease affects the afflicted personís ability to walk,
talk, think and reason. Its impact is felt in three major areas Ė
emotional, physical and cognitive.
Early symptoms affect cognition and mobility. Other indicators
include depression, mood swings, forgetfulness, clumsiness,
involuntary twitching and lack of coordination. As the disease
advances, concentration and short-term memory are affected and
involuntary movements of the head, trunk and limbs increase.
Walking, speaking and swallowing skills decrease. Eventually the
patient becomes totally dependent. Death is often caused by choking,
infection or heart failure. While there is currently no cure, those
living with with the disease must learn to live with it, for life
after diagnosis can last as long as 20 or 30 years. Physical fitness
is very important Ė those who are fit handle the diseaseís
progression better than those who are not.
Caregivers of those living with Huntingtonís disease know as perhaps
not many others do the complexities of lending support to someone
who is involuntarily traveling backwards emotionally while
continuing to relate to them on a level intellectual playing field
for as long as possible. Faced with behavioral problems,
particularly those of dementia, an altered perception of the world
and changes in family dynamics, the caregiver must learn to speak a
new language, one whose vocabulary is not verbal but behavioral.
Learning to look beyond unwanted behaviors to see what the patient
is trying to say or demonstrate is a pre-requisite to successful
caregiving, for it is up to the helper to see through, interpret,
analyze and deliver while still preserving the patientís dignity and
self worth. Imagine if you will the difficulty of knowing what you
want to say or do but being unable to follow through. It is this
difficult truth that becomes the new reality of those living with
Huntingtonís disease. Caregivers function as life preservers,
helping love ones hold onto a remnant of the life they once knew.
There is absolutely no doubt that it takes a special person with a
heart of gold who can look beyond, understand, translate and
accomplish what is needed in the face of the disease and
debilitation of a loved one. It is an ability to translate the
language of disability into productivity that will enable a
caregiver to observe and see what he or she is capable of and still
interested in doing and adjust expectations accordingly. It is in
helping to find things he or she can still do that self worth is
saved and confidence restored. Aggression, depression, obsessions
and compulsions, hallucinations and paranoia are all behaviors the
caregiver may have to confront. Add to that irrevocably changed
family dynamics, and it becomes clear that families must work
together to learn new, unfamiliar terrain. The imbalance is that the
lionís share of the work will fall to the caregiver. Following are
some tips that should be helpful:
The caregiver must accept responsibility for but not control
conversations. Patients should be encouraged to speak slowly.
Messages should be repeated or rephrased and simplified as
necessary. The caregiver should ask yes/no questions to gain
clarity and should try to have an understanding of what the
family member may be discussing so as to make comprehension
easier. If the speaker gets distracted, he or she should be
refocused. Presenting two choices instead of asking open-ended
questions can help. It may become difficult not to cause
frustration or anger, but the caregiver must exercise great
patience to preserve equanimity. Addressing requests promptly
helps prevent angry outbursts.
Non-verbal modeling and participating in activities helps
encourage patients to participate and prevents apathy. In spite
of the fact that the lurching, dance-like, abnormal movements of
a patient with Huntingtonís disease can be awkward, making both
of you feel uncomfortable, encouraging involvement in activities
is important and can fight depression. Sometimes activities can
be found in which your loved one can participate that will give
a caregiver much-needed respite.
Remember that in late stage Huntingtonís disease, the a person
may not be able to verbally communicate any longer, but he or
she will not have lost the ability to understand. It is at this
point that it becomes critical for the caregiver to maintain
communication.. He or she still has much to share, and helping
them do that as well as giving them something to think about
will be invaluable.
When eating and swallowing become difficult, the caregiver
should understand that eating in a peaceful environment will
help. Your loved one should not be permitted to eat when he or
she is upset or anxious. Good lighting will permit the food to
be seen more easily. Caregivers should not talk when the family
member is eating. Good posture is critical, and the patient
should be encouraged to sit up straight, chin pointed to chest
and head tilted down for easy swallowing. Try to remain at the
table for 20-30 minutes after the meal, and keep head movements
to a minimum.
Because people living with Huntingtonís disease are moving
constantly, they are often very hungry. An increased calorie
load means that eating several smaller meals more frequently
through the day may be better than three large meals. Encourage
you r love one to take smaller bites and eat smaller pieces of
food. Drinking from a straw is helpful, as is eating blended,
softened and pureed foods. Dry, tough and stringy foods should
be avoided, and thicker liquids are easier to swallow.
Caregivers should know the Heimlich maneuver.
Keeping in mind that a person with Huntingtonís has an altered
sense of reality, the caregiver must think through what can be
reached, how he or she will think of it, and whether or not it
would be dangerous to them.
Install grab bars in bathtubs and shower stalls. Shower benches
and flexible shower heads prolong independence. Textured strips
should be put on the floor of the tub and shower for traction.
Finally, raised toilet seats and handles give the patient
something to hold onto.
In the kitchen, put chemicals out of reach. Supervision is
important such as making sure the stove isnít turned on by
accident. Put items to be used within easy reach, and keep the
counters free of clutter.
Minimize furniture so that your loved one doesnít have to
maneuver around it. Remove rugs and carpets where possible since
they are stumbling hazards. Pre-programmed telephones make
A tendency towards paranoia might mean that your loved one may
try to lock you out of your home. Prevent this by installing
locks that can be opened from the outside as well as the inside.
Keyless entries are a good idea. For those who tend to leave
home, nametags sewn inside clothing with their name and phone
number are useful. Also, door alarms will allow you to know when
someone is coming and going.
Because Huntingtonís disease is progressive, the symptoms exacerbate
as the disease advances. Late stage symptoms of the disease include
dystonia, sustained abnormal postures that include facial grimaces,
twisted neck and arched back; chorea or choreoathetosis, a condition
in which involuntary movements like jerking, twisting and writhing
become more pronounced; a slowness of voluntary movements to include
abnormal eye movements and gait disturbances; an inability to
regulate the speed or force of movements; an inability to initiate
movement; slowed reactions; difficulty speaking and swallowing due
to involvement of the throat muscles; localized or generalized
weakness and impaired balance ability; and rigidity. In most
patients, chorea peaks and then declines while rigidity and slowness
in movement may become more significant. Rigidity and spasticity are
late stage problems that can affect gait, lead to falls and
eventually lead to the need for a wheelchair. While an enumeration
of these complications paints a bleak picture and must illustrate
the feeling of helplessness faced by caregivers, it is important for
others to understand not only what the patient is living but what
their caregivers face daily.
There is great reason for hope in combating Huntingtonís, however.
Since 1991, Columbia Universityís HDSA Center for Excellence has
been working tirelessly to provide help to those who have the
disease (www.hdny.org). And recently, Sirna Therapeutics and the
University of Iowa announced groundbreaking results in a preclinical
study for the treatment of Huntingtonís disease through RNA
Interference Therapy. One day at a time, with the help of people who
care and want to find answers, through the courage of those living
with the disease and because of the 24/7 dedication of caregivers,
there will be answers. Those who live it know that Huntingtonís
disease does not have to have the last word. It can be a statement
of victory from those who learn in each moment to overcome
Helpful Hints for Caregivers
The diet for people living with Huntingtonís disease should
be high in protein and carbohydrates. If the person is
underweight, a minimum of 3000 calories a day might be
required and is best administered in smaller, more frequent
meals instead of three large meals. Constant movements burn
many calories and the resulting increased hunger can be met
with eggnog, Carnation Instant Breakfast or milk.
Multivitamins are important as are vitamins B complex, C and
People with Huntington's should avoid junk foods, highly
fried foods and alcoholic beverages.
Plastic dishes and large, plastic utensils are helpful Ė the
dishes help prevent breakage, and the utensils are easier
for patients to hold.
Fill cups of liquid only halfway full to prevent spillage.
Flexible straws are helpful.
Let your loved one dress him - or herself. Choose easy to
wear clothing, replacing buttons and zippers with snaps and
Velcro fasteners. Replacing the small, flat tabs of zippers
with a large plastic ring will help the patient when
dressing. Avoid belts, choosing suspenders instead, and
avoid ties. Slip-on loafers with rubber soles are great shoe
Donít let the your loved one withdraw. Keep him or her
occupied to help prevent depression and social isolation.
Stay positive with your communication. Let the patient know
if you donít understand something. Learn the patientís
vocabulary. Encourage your loved one to use word or picture
cards. Before speech deteriorates, establish a definite
yes/no response like the blinking of an eye or the nodding
of a head.
Accept the person as he
or she is. Be understanding and relaxed.
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