Jacob has Canavan disease. Caravan disease ia an inherited condition that affects the breakdown and use (metabolism) of aspartic acid. The lack of the enzyme, aspartoacylase, leads to buildup of material called N-acetylaspartic acid in the brain. This causes the white matter of the brain to break down and deteriorate.
Symptoms usually begin in the first year of life. Parents tend to notice when a child is not reaching certain developmental milestones, including head control.
As for treatment it is aimed to ease the symptoms of the disease. There is no specific treatment.
Please take a look at the video to learn more.
God Bless
No comments:
Post a Comment