Canavan Disease is a rare fatal genetic neurological disorder that deteriorates the white matter (myelin) in the brain. White matter is responsible for forming 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. Without myelin, the body cannot perform normal motor skills, can become increasingly stiff or floppy and suffers a multitude of symptoms including issues with swallowing, severe scoliosis and hip dislocations.

In children afflicted with Canavan Disease, a mutation in the ASPA gene 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.

1 in 37 Ashkenazi Jews carry the Canavan gene although it has been found in many ethnic backgrounds all over the world. An estimated 200 children are diagnosed with Canavan disease each year. While Canavan is rare by disease standards (measured as fewer than 100,000 people,) Canavan is quite large when measured by the number of people who will benefit from the cutting edge research funded by Jacob's Cure.

Canavan disease is prevalent in the Ashkenazi Jewish population, exhibiting a 1 in 37 carrier rate. However, it has been increasingly identified in people of other ethnic backgrounds. Jacob's Cure urges all expectant couples to seek genetic counseling.

It is highly recommended that a couple test in light of possible false negatives or false positives. In the event that one is a carrier, it is strongly suggested that further testing be performed to ensure non-carrier status. To test if you are a carrier, consult with your physician or OB/GYN about genetic and other chromosomal disorders.

In couples where both parents are carriers of the ASPA gene mutation, there is a 1 in 4 chance that they will conceive a child afflicted with Canavan Disease. Please consult your physician or OB/GYN to discuss options to ensure a healthy pregnancy.

It is the lack of white matter that leaves Canavan children incapable of performing the simplest functions, signs of which begin in the first 3-6 months of their life when children will begin to exhibit a lack of head control. Other symptoms include: loss of motor skills, difficulty eating, reflux, lack of tracking with the eyes and problems controlling muscle tone. Children afflicted with the disease suffer from a combination of the following:

Blindness
Paralysis
Prone to seizures
Loss of dexterity
Speech impairment
Loss of basic motor skills

While there is currently no cure for the disease, Jacob's Cure and Canavan Disease researchers are optimistic about treatments which can help slow down progression of the disease. A number of pharmacological interventions, including lithium, are available which have slowed or halted the progression of the disease in most of the treated children. Additional medications can be prescribed to address the symptoms of the disease. The general life expectancy without treatment for a Canavan child is between 3 and 10 years.