What Is Canavan Disease
Canavan disease is a rare and devastating
fatal childhood neurodegenerative disorder. Canavan affects the formation of myelin, or white matter of the brain.
The children battling Canavan disease are loving and highly social, yet they
are trapped in bodies that cannot respond to signals from the brain.
These precious children (such as Max Randell pictured) are unable to hold
up their heads, sit up, crawl, and most will never say a single
word. Many of the children use a
series of blinks and augmentative equipment to communicate.
In children afflicted with Canavan disease a gene identified as
ASPA is defective. This gene produces an essential enzyme in the brain
known as Aspartoacylase which breaks down an acid (N-Acetylaspartate)
or NAA. Due to this defect, NAA accumulates to dangerously
high levels in the brain drastically interfering with the formation of
myelin.
As Canavan disease is progressive, the brain eventually disintegrates into spongy
tissue and even the most elemental signals cannot get through.
Unless
a cure is found, most Canavan children will not survive their 15th
birthday. These precious children gradually go blind, lose the
ability to swallow, require feeding tubes, and can eventually fall
into a vegetative state with no voluntary movement.
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