Huntington's disease (HD) is an inherited degenerative
neuro-psychiatric brain disorder which affects both body
and mind. It is caused from brain cells in the caudate
nucleus destroying themselves. It takes several years
before symptoms begin to show and can have devastating
effects both on the pHD (person with Huntington's
disease) and on their families and friends, co-workers
and communities.
| The
only way to get this disease is
through birth. It is a dominant
gene, meaning that each child of
a Huntington parent has a 50/50
chance of inheriting the gene.
That means that all, none or
some of your children could
inherit HD if it is in the
family. However, because of lack
of knowledge and the stigma
attached to the people with the
disease in the past, many
families hid the pHD or blamed
it on mental illness, alcoholism
or dementia. Many other families
adopted out children or
marriages broke up resulting in
the family chain being broken
and along with it, the history
of their illnesses. |
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The
Huntington's disease gene was identified in 1993 and is
located near the top of the fourth chromosome. Since one
chromosome from each parent is passed on to a child, the
chance is random that either the healthy or the HD gene
is inherited by the child. Huntington's disease can be
identified with a DNA test but testing procedures are
stringent, and most centers require a consultation with
a neurologist, geneticist and psychiatrist so  that
the person will have as much support as possible while
going through the testing period and be counseled for a
positive or negative result.
What does the disease do to a
person?
There
are 3 main areas that are affected by Huntington's
Disease:
EMOTIONAL:
The early
stages of the disease are hard to diagnose or to
recognize as the emotional changes can be subtle at
first and slow progressing so that it may take years of
depression, anxiety and sleeplessness before a person
with Huntington's disease (pHD) - starts to show
physical signs.
Many pHDs do
not know what is wrong and will chalk it up to stress,
lack of sleep or depression. Families usually agree and
indeed these are the very first symptoms of HD and serve
also to make the disease worse. Some pHDs will
experience severe rage or inappropriate behavior in
situations, paranoia and on rare occasions,
hallucinations. Nervousness and anxiety are common
during the early stages of Huntington's. Depression is
the main cause of emotional problems in pHD's and can
easily be treated. Left untreated, the pHD gets worse
and can show signs of paranoia, withdrawal from society
and inappropriate social and sexual behavior.
Many of
these emotional symptoms create other problems and a
circle of emotional grief. Lack of self-esteem, the
sense of loss of one's control over one's life, and
becoming more and more dependant on others serves to rid
the person of their sense of pride and can cause a
depressive state in itself.
It is at
this time of the pHD's life where difficulties on the
job occur, difficulties remembering names, numbers,
sequences, directions, etc. can cause lower performance
on the job and often result in loss of jobs or
demotions. As the disease progress, the pHD finds it
increasingly challenging to follow instructions, to be
organized, plan ahead and keep track of themselves.
Their sense of direction may also be affected. Short
term memory and instant recall become very difficult and
the ability to complete thoughts into actions is slower.
These
emotional symptoms of Huntington's may occur years
before any physical symptoms and usually get quite
severe before the person seeks medical help. Often
anti-depressants are prescribed which help.
PHYSICAL
Some
problems with coordination may start to show and even
involuntary movements, falling, clumsiness, shrugging,
facial tics, and neck problems are common. This
"chorea" or dance-like movement is constant
and the pHD has little to no control over it. Originally
known as St. Vitus' Dance, the movements are regular and
repetitive in the person but each person's movements may
differ from someone else with HD. Because the brain is
not sending the signals to the muscles properly,
frequent falling is a danger to a pHD. This staggering
'gait' along with slurry speech is often mistaken for
drunkenness.
Some pHDs
become rigid and cannot move their muscles. Speech and
swallowing become difficult and choking is a real
problem. Speech therapists can help somewhat at this
stage. Not all pHDs manifest the same symptoms at the
same stages of the disease as there are many variables
but they do share many symptoms in common. If the person
with HD lives long enough, he or she will get dementia
and rigidity. This usually takes 15-20 years from the
onset of the physical symptoms. Although Huntington's
Disease usually does not appear until the mid-thirties
to mid-forties and later, there are about 1% who
contract the disease in their teens or younger. This is
known as juvenile Huntington's disease.
COGNITIVE
SYMPTOMS
Some of the
more devastating cognitive symptoms have already been
mentioned, for example, instant or short term recall,
decreased ability to organize thoughts, words or
actions, organizational or multi-level skills which
include following directions or giving directions,
sometimes a loss of sense of direction or getting
confused easily and not being able to snap out of it
| pHDs
suffer from loss of the ability
to figure out complex
situations, often not being able
to think where there are minor
distractions. Simple tasks such
as bathing or brushing teeth, or
getting dressed become stressful
and a 'big deal' because of the
many steps involved and the step
by step process which has to be
thought out one step at a time. |
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Planning
ahead or having plans changed is extremely difficult for
persons with HD, as it requires more abstract concepts
than say, making a sandwich. PHDs often have to have
things set out for them and a list to follow.
The most important thing
to remember with this disease is not to confuse it with
Alzheimer's, Multiple-Sclerosis, ALS (Lou Gehrig's
disease) or Parkinson's Disease even though all of the
symptoms of the above diseases do occur. This is because
it is the central brain that is malfunctioning and
causing all systems and organs and abilities to
malfunction. A person with Huntington's disease is
completely aware of what is happening to their body and
mind right up until the end - they can hear, understand
and feel even though they may not be able to communicate
or move their muscles.
If the
devil, himself, could create a disease, Huntington's
disease would be it.
Resources
that can be of assistance:
CANADIAN
HD WEB SITE
Huntington Society of Canada
13 Water Street North, Suite 3, Cambridge,
Ontario
P.O. Box 1269, Cambridge, ON N1R 7G6
Email: info@hsc-ca.org
Tel: (519) 622-1002
Fax: (519) 622-7370 |
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National
Office
158 West 29th Street, 7th Floor
New York, NY 10001-5300
Phone: (212) 242-1968 (800) 345-HDSA
Fax: (212) 239-3430 |
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