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Imagine yourself trapped inside your own body-- unable to ever sit
up, walk, or speak a single word. These are the incomprehensible
challenges that children suffering from Canavan Disease, a neurological
disorder, are forced to confront daily. Canavan Disease is a rare
and fatal childhood neurodegenerative disorder that affects the
central nervous system (CNS). Canavan is a genetically inherited
recessive autosomal disease that results when each parent contributes
one recessive gene to their child. Children with Canavan are usually
diagnosed around 3-6 months of age after exhibiting a severe developmental
delay, loss of muscle tone, and convulsions.
Canavan affects the formation of the myelin sheath, the white matter
insulating neurons that is critically important in transmitting
nerve impulses in the brain. The defective gene responsible for
the onset of Canavan is located on chromosome 17 and is identified
as ASPA. ASPA is responsible for producing an essential enzyme in
the brain called Aspartoacylase, which acts to degrade an acid,
called N-Acetylaspartate (NAA).
Consequently, NAA accumulates to dangerously high levels in the
brain, thereby promoting the demyelination of the sheath normally
covering the neurons. Stripped of their protective coating, nerve
signals cannot be transmitted from the brain and spinal cord to
other parts of the body. Due to the progressive nature of this disease,
the brain eventually disintegrates into spongy tissue. The brain
continues to degenerate to the extent that the most basic nerve
impulses cannot be transmitted, leaving the children completely
dependent on caretakers.
Over the course of their life, children with Canavan learn to adapt
to their restrictive lifestyles and learn to communicate through
augmentative equipment and interestingly, through a series of blinks
(i.e. 1 blink for yes, 2 blinks for no). Children with Canavan Disease
are aware of their surroundings and show affection toward their
caretakers. At the same age most children are learning how to ride
a bike, children with Canavan become confined to a wheelchair and
gradually lose their vision, ability to swallow, and require feeding
tubes. The final stage of life for children with Canavan is characterized
by loosing all voluntary movement and deteriorating to a vegetative
state before dying.
As a result of this devastating disease, the vast majority of children
suffering from Canavan die before their 10th birthday. The hopes
and dreams of families affected by children battling Canavan Disease
lie in scientific advancements and the hope that a cure for this
disease will be discovered in the near future. Until then, volunteers
are involved with improving the quality of life of the children
with Canavan are actively fundraising for gene therapy trials and
raising public awareness. The discovery of an effective treatment
or cure for Canavan would likely benefit other neurological diseases
such as Tay-Sachs Disease and Parkinson’s Disease, as well
as patients with spinal chord injuries and those afflicted with
Alzheimer's.
The unrelenting courage and enduring spirit of children battling
Canavan Disease is truly inspirational and can teach all of us the
true meaning of love and loss, life and death.
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