mutation story

Canavan disease
I am Canavan disease, I was made by Mutations in the ASPA gene. The ASPA gene provides instructions for making an enzyme called aspartoacylase. The enzyme normally breaks down a compound called N-acetyl-L-aspartic acid which is found in neurons in the brain. The way my carrier got me is because I got inherited from my carriers parents I was pretty lucky because there is only a 25% chance I would get inherited. He started off as a normal kid his mom had my older brother in her but his dad was fine. His parents didn’t know I was inside him until he was 4 months old, that is when my side effects started to kick in! they didn’t really notice the first side effect which is intellectual disability because he was young, but they did start to notice the next one which was me changing his behavior, he wouldn’t listen, wouldn’t eat his food without force. That is when my carriers parents took me and him to the doctor, that is when they found out I was inside him. There is no cure and no treatment for me. 6 month go by and I start to slow down essential enzymes causing deterioration of the white matter in the brain, which is preventing the proper transmissions of nerve signals. This causes his head to grow abnormally and have almost no control over it. he is having feeding difficulties abnormal muscle tone. A couple of days goes by and he is in a wheel chair, he cant walk talk or even crawl. His parents want to send him to the hospital but they still have no cure or even treatment. 3 years later and everything keeps going down hill for my carrier from now on he has developed paralysis is blind and having seizures. 7 years later… his parents decided to take him to the hospital, I have been slowly killing him and he is living his last couple of days in a hospital bed. He has lasted much longer than others, most die at 10 but he is 11 now. He was actually very smart for someone with me inside of them he would have been a smart kid if his parents weren’t German which is the most likely race to be carrying me and also if one of his parents weren’t one of every 40 Germans to have my gene. Then with his last breaths he died, living a boring life with almost no adventure and no thoughts.

1.The questions I researched are, how the Canavan disease mutation is formed, if there is any cure, what effects the mutation has on the body, how the hosts life is affected, what the hosts look like with the mutation, the average life span, what age does the mutation start to kick in, how you get the disease, the chance you will get it, what race has the highest probability of getting the mutation.

2.The digital tools I used were google, YouTube, Socratic and about Canavan disease | Canavan foundation.
3.The process I used was to search things up as I go, so in my story if I needed to find out the average age someone with Canavan disease lives I would search it up then continue with the rest of the story

5.The process went not as planned but went alright, I started off slow and rough but once I got the base facts I had a good understanding of the project. I think I did a good job on the project, but I think I could have more back story and talked about the actual carrier more.