WHAT IS CANAVAN DISEASE

Canavan Disease is in the family of Leukodystropies. Canavan Disease is a rare genetic neurological disease. More prevalent in Ashkenazi Jews and Saudi Arabians the rare gene flaw must be inherited from both parents. The gene mutation prevents the production of an enzyme called Aspartoacyclase. Without this enzyme an acid called N­acetylaspartate builds up and starts destroying the myelin sheath, which is the central nervous systems white matter. The myelin sheath is the protective coating around every nerve in the brain and spinal cord, it’s job is to ensure that nerve impulses are properly transmitted from the body to the brain and back. The destruction of the myelin leaves Canavan children incapable of performing the simplest of functions: holding up their head, sitting, crawling, walking, or being able to say “Mommy” or” Daddy”. Even if they live to their full life expectancy three to ten years they become blind, paralyzed, have eating difficulties and are prone to and increasingly lost to the world around them. But, there is HOPE for these children. The Canavan Research Foundation. who in 1998 with researchers, scientists, neurosurgeons and geneticists performed the first experimental gene replacement therapy in the US on fifteen afflicted children. This procedure showed many positive results: increase in myelin production, head control, vision and awareness. The Canavan Foundation awaiting approval from the FDA, to begin the clinical trials for this year. This gene therapy is to be more powerful then the first, with greater expectations. All the families are anxiously waiting for the trials to begin. The procedure or the research and development isn’t federal funded or covered by insurance, so the parents are left to raise money through fundraising efforts for all research, development and for the procedure for their child.