Part 1: Mutation Story
1) As a gene with Angelman syndrome, only 1 out of 2 copies of the gene is working, for normal people both 2 of their genes work at the same time.
2) I was caused by a genetic mutation on chromosome 15, and have lost function of the gene called UBE3A, for normal people they have a control of UBE3A gene.
3) Angelman syndrome was once called the “happy puppet syndrome” because of children’s sunny outlook and jerky movements. It’s now called the “Angelman syndrome” after the first doctor Harry Angelman who investigated the syndrome in 1965. Angelman syndrome’s effects are developmental delays, such as lack of crawling or babbling at age of 6-12 months, and intellectual disability lack of or minimal speech, unable to walk, move or balance. Life expectancy is almost the same as normal people, most affected children also have difficulty sleeping and need less sleep that usual.
4) Steve was born with Angelman syndrome, his condition affected him a lot throughout his whole life. Steve was born with a small head and recurrent seizures, he also have problems sleeping and he needed less sleep but he was happy about it. When Steve was 3 years old he still couldn’t balance on his own, year 2000 Steve turned 7 and he still couldn’t walk or balance his parents gave him a wheelchair. Steve was a happy individual even though he suffer from his condition. Every school days Steve has to go to a special school only for children who was born with disabilities, Steve was tired of being not able to do most people can. Steve experienced the same routine everyday until he turned 20, one day Steve woke up turned off his alarm and accidently walk to the bathroom on his own, his whole family was surprised but Steve still experience reccurent seizure for the rest of his life…
Part 2: The making of Mutation Story
1)What I searched…
-What causes Angelman syndrome
-Angelman syndrome gene
-What are the effects of Angelman syndrome
-What are the positive and negative effects of the Angelman syndrome
-How to prevent Angelman syndrome
-Why is it called the Angelman syndrome
2) Where I did my research…
-Syndrome’s website/Doctor’s websites
3) I searched up questions and look through websites to find information about the symptom, looked at youtube and watched how the symptom works and how it effects people specially childrens.
4) Most of the sites I found was really good and I knew that I could trust most of them. I verified the sites I found base on what information I got from the other websites and compared them. Some websites I found was really easy to verify, I looked at the url and found (.org, .gov and .com)
5) It was difficult but spending some time to research for information you need helps a lot. I could have done better with part 1 #1&2 part 2 #2.