Part 1:
The story of my existence is pretty unique. Being a part of a genetic disorder might have not been what I wanted, I sometimes feel bad for my host Joey. His parents didn’t know about me until they noticed he was having development delays as a 6 month old. They got even more concerned when Joey began having seizures as a 2 year old. As a toddler he had feeding problem, he would have a short attention span and also have difficulty sleeping. As Joey was growing up his parents noticed he couldn’t walk and had difficulty balancing, when took to the doctor he was diagnosed with me, “Angelman Syndrome”. Growing up he had difficulty speaking and always used a speech app on his iPad. He went to therapy for his walking and got better at balancing. Overall Joey is having a normal life span with frequent smiles and also outbursts of laughter. When Joey got to the age of 50, his excitement and sleep problems had improved very much.
So what caused me?
Now that Joey is close to the age of 70 I could finally tell my story. I was a genetic disorder caused by a gene located on chromosome 15 called UBE3A. When Joey received his genes from his parents he was supposed to get two but the maternal copy was missing. Since his cells used information from both of his copies and one was missing that caused the problem, me.
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Part 2:
Ask-
What causes this mutation?
What does the mutation do to the host’s body?
Is there a cure for this mutation?
How is the host’s life affected?
Who discovered this syndrome and how?
Is this mutation fatal?
Acquire-
I used google as my search engine, I also researched about the mutation using a syndrome website and I also provided a video of the mutation in my story.
Here are screenshots:
Analyze-
I found a lot of relevant information in the following websites:
https://ghr.nlm.nih.gov/condition/angelman-syndrome
http://www.mayoclinic.org/diseases-conditions/angelman-syndrome/basics/definition/con-20033404
The reason I know these informations were relevant is because it said the exact same thing on the syndrome’s website which was also one of my sources.
Assess-
The process of this project went pretty rocky, I was really busy most of the time studying for two huge tests coming up but I managed to give time to this too. Overall I could have done a better job with the grammar and adding a bit more detail but I am proud of my end product.
Thanks for reading my story 🙂