Canavan Disease is a disease is one of the most common cerebral degenerative diseases of infancy.  It is a gene-linked neurological birth disorder that causes the white-matter in the brain to break down into spongy tissue full of microscopic fluid-filled spaces.  This can cause symptoms such as mental retardation, abnormally large head, floppy or stiff muscle tone, loss of basic motor skills, and feeding problems.  Children with Canavan Disease usually die by the age of 10.

1 out of every 6,400 people of the Ashkenazi Jewish heritage suffer from this disease.  It affects 0.02% of the U.S. population.  It can only be inherited and is 100% genetic.

TREATMENT    

Unfortunately, there is no known treatment.  Scientists, however are studying how to prevent it before birth.  Nothing has worked so far to prevent it or cure it.  There are ways to treat the symptoms by having the patient take medication.  This can make the patient more comfortable.

RESEARCH

The most promising research is by performing gene therapy.  This procedure is done by the transfer of an unchanged aspartoacylase (ASPA) gene into the brain cells of a patient.  The objective is to restore normal amounts of aspartoacylase in the brain and nervous system and prevent NAA and the symptoms of Canavan disease to build up. 

CURRENT EVENTS

In this story in the New York Times, a mother and father whose child has Canavan Disease desperately try and find a cure for the disease, along with many other families who are suffering as well.  They know there will not be a cure in their lifetime.  There have been no break throughs or late developments in the search for a cure for Canavan Disease.  All scientists can do is keep trying. 

A DAY IN THE LIFE

A child with Canavan Disease is severely disabled, unable to walk, talk, eat.  They are unable to do what normal children do such as play sports, run around.  It is hard for them to play with their toys.  People with Canavan Disease just cope day to day.

VOCABULARY

aspartoacylase: a hydrolase enzyme which breaks down N-acetylaspartate

degenerative: a disease in which the function or structure of the affected tissues or organs will progressively deteriorate neurological: Having to do with the nerves or the nervous system

BIBLIOGRAPHY

wikipedia.org

http://en.wikipedia.org/wiki/Canavan_disease

nytimes.com