Katelyn Walker
ADL 10
January 15, 2016
Apert’s syndrome

I just wanted to be normal. To be like all the other genes in Zach’s body. Instead I am a mutation, because of this I have caused problem for Zach and will continue to cause problems for the rest of his life. I am a rare mutation in only a single gene. I was the gene that was supposed to be responsible for guiding bones to join together at the right moment in development, but I have failed. I still can’t believe that even though I was the only gene affected in his entire body I still caused this much damage. Because of me Zach has an oversized forehead that makes his head look longer, he also has eyes that are further apart than normal, and has an abnormally small mouth. He stands 5’0 tall because of the short structure I gave him. He used to have webbed feet and hands, a crooked nose, cleft palate, crooked teeth, and droopy eyelids until he got surgery for all of them. I am a mutation on the 10q26 chromosome, and a disorder compromising the FGFR2 related craniosynostosis spectrum. I didn’t mean for any of this to happen, all I want to be is normal. Zach will have the same life expectancy as normal people, that’s about the only thing they have in common. He gets strange looks walking down the hallways at school and the streets around his house and I feel bad because it is all my fault. When he stares in the mirror wishing he looked normal and other kids wouldn’t be scared of him it kills me to think what his life would be like if I wasn’t a mutation. Many people ask him who did this to him and he says that nobody did, this is partially true. Most cases of Apert’s syndrome a sporadic and has no dominant inherence. Little do they know that I actually came from a gene that comes from Zach’s mother. I don’t blame her for this because it is actually my fault that all this is happening to him. I hope that he can live a somewhat normal life through everything I have done to him.

 

ADL10 answers

1. At first I just googled Apert’s syndrome to get a better understanding of the disease I had. When I did that I scanned some sites to find information about the disease. From those sites I gathered different information that I needed in order to do the project. After that if I didn’t have all the information I needed I would research that certain topic related to cat eye syndrome.
2. I used a site that really helped me it was called rarediseases.org. It was a really helpful sight that gave me almost all the information I needed to complete the assignment. I also explored yahoo which is a website I have never really gone on before.
3. I wanted to use different websites to explore my disease better. At first I looked at a website that told me a lot of the information that I needed. I then searched up all the rest of the information I needed and put it all in my own words before cresting my story.
4. I went to the first website and took some notes down. Then I went to some other sites and corroborated information with other websites to make sure the information I got was accurate.
5. I think that finding the information I needed was easy and I found it interesting looking at all the different resources I could use to help me. I thought that it was a little hard to put all the information in my own words because they would write a huge paragraph on information about just one subject that I needed.