WHAT IS CANAVAN DISEASE?

Canavan disease is a fatal genetic neurological disorder that deteriorates the white matter (myelin) in the brain. The white matter forms a protective coating around every nerve in the brain and spinal cord, to ensure that nerve impulses are properly transmitted from one part of the body to another.

In children afflicted with Canavan Disease, a gene mutation prevents the production of a critical enzyme called Apartoacyclase. Without this enzyme, an acid called NAA or N-acetylaspartate is not broken down, thereby accumulating to dangerous levels in the brain. This is thought to cause catastrophic effects to the normal formation of the white matter.

It is the lack of white matter that leaves Canavan children incapable of performing the simplest functions. Even if they live to their full life expectancy - three to ten years - they become blind, paralyzed, prone to seizures...and increasingly lost to the world around them

Luckily, the Canavan gene has been identified allowing at risk couples to carrier test for this deadly disease. Both parents must be carriers in order to have a child with Canavan (25% risk or 1 in 4).

While prevalent in the Ashkenazi Jewish population, Canavan has recently been identified in people of other ethnic backgrounds as well. Jacob’s Cure urges all expectant couples to seek genetic counseling.