Canavan Disease is one of over 50 genetically inherited disorders known as leukodystrophies diseases. It is a progressive, neurological genetic disorder caused by the absence of aspartoacylase (ASPA), a vital enzyme. ASPA breaks N-acetylaspartate (NAA) into building blocks essential for building myelin (“white matter”), a fatty membrane that forms a protective coating around the nerves to ensure that they function properly. Symptoms of Canavan disease vary but generally include rapidly increasing head circumference and lack of control, reduced visual responsiveness, and abnormal muscle tone such as stiffness or floppiness. Symptoms typically become apparent in infancy and it is a life-limiting condition. At the present time, there is no cure for Canavan disease — only symptom management.
For more information, visit the National Tay-Sachs and Allied Diseases Association
Note: As science advances, we continue to experience a fast-evolving landscape of potential new therapies. The families portrayed here offer a perspective on coping with rare and/or life-limiting conditions. They also each represent a particular moment in time.
If you are considering a clinical trial for your child, please also see the Courageous Parents Network Guided Pathway on Clinical Trials.