Canavan Disease Case Study

Imagine a child named Jacob and he wakes up one day and he couldn’t see 10 feet ahead of him and he didn’t hear his blaring loud alarm go off. For some reason everything is perfectly silent and he cant get up or even roll of his bed. Jacob starts to realize something has to be very wrong. Boisterously he yells for his mom but he couldn’t even hear himself yell, and then he starts spasming and shaking and blank out. He had a sezior when he wakes up he is in a hospital and his mom is crying. Then she tells him he will be living here for the rest of his life as the docter tells her he has canavan disease and he has 2 years max to live and he would die around his 8th birthday. Canavan Disease is a rare genetic neurological disorder affecting children.

These symptoms usually begin in early infancy around 3 to 5 months. Before this the child appears normal showing no sign of this fatal disease.at the 3-5 age mark the infected infants begin having problems with their development. They might have a delay in their motor skills such as turning/rolling over. Also they might have trouble controlling head movements, and sitting up without support. These infants usually have weak muscle tone which is called hypotonia. “The infants have an unusually large head called macrocephaly, abnormal posture, and intellectual disabilities. Feeding and swallowing difficulties, seizures, and sleep disturbances may also develop.” Basically these babies are surviving on the bare minimum. Children with Canavan disease cannot crawl, walk, sit or talk. They even have reduced visual responces. The life expectancy for people with Canavan disease varies. Most affected children live only into childhood, many not past the age of 10. Canavan disease is found mostly in people of Ashkenazi (German and Eastern European) Jewish ancestry. It is estimated that 1 in 40 Ashkenazi Jews carries the Canavan gene. It is also found in other ethnic