Part one:
My name is Coffin–Lowry syndrome I am a genetic disorder that is X-linked dominant and I cause severe mental problems and sometimes I am associated with intellectual disability, short stature, skeletal abnormalities, heart problems, impaired hearing and sudden attacks of muscle weakness. Life span is sometimes reduced in people with CLS. Death occurred in 13.5% of males and 4.5% of females and they on average get to the age of 13-34 years old.
My hosts name Susan, she is a 10 year old girl, she got it from her mother when she was born. Susan’s mother had a 50% chance of passing it on to Susan and she did. The symptoms that she has right now are that she has some Cardiac abnormalities, and she has an underdeveloped upper jaw bone, widely spaced eyes. And she has Auditory abnormalities.
I as a gene have caused a lot of problems for Susan and her family, her mother passed away from my gene at the age of Thirty-One, Susan was only six years old when it happened. Susan in her condition is expected to live to the age of about sixteen and since there is no cure there isn’t much that they can do about it. Though since Susan was born with this syndrome, she never had a huge problem with the way she looked even thought she always knew that she was different than other people her age.
I caused Susan to have a heart attack when she was only five years old and she almost died. Since then her family has always being careful and keeping an eye on her. I honestly feel bad for all the things that has happened to this poor girl but I am doing my job. The only thing that can stop me is a cure or some type of treatment but there is no cure or treatment.
Years later when she was nineteen, she passed the age that she was expected to live and the doctors where very surprised but it came to that time where I had no choice. I had to finish my job. One night she went to sleep and I caused her to have another heart attack and she never woke up. Even thought I went with her everywhere she would go, she was always happy no matter what. And she did not deserve what happened to her but there was nothing I could do and if I could take it all back I would.
Part two:
1. What questions did you need to research in order to create your mutation story?
- What is Coffin-Lowry syndrome?
- What happened to Coffin–Lowry syndrome as a gene?
- What causes Coffin–Lowry syndrome?
- What effects did does Coffin-Lowry syndrome have on the host’s body?
- How was the host’s life affected what having Coffin-Lowry syndrome?
- What is the life expectancy of a person when they have Coffin-Lowry syndrome?
2. What new or familiar digital tools did you try to use as you worked through this project?
I used websites to find all of my information.
3. What was the process you used to investigate the topic?
I found all of my information first and then wrote the story.
4. How did you verify and cite the information you found?
I double checked that the information on the website was correct and that is looked like a real website.
5. How did the process of completing this challenge go? What could you have done better?
I think that this was a very interesting idea for a project and it was very challenging. I think I could have done a bit more research and worked a bit harder on my story.
- https://ghr.nlm.nih.gov/condition/coffin-lowry-syndrome
- https://en.wikipedia.org/wiki/Coffin%E2%80%93Lowry_syndrome
- http://www.socialstyrelsen.se/rarediseases/coffin-lowrysyndrome
- http://coffinlowrygeneticdisorder.weebly.com/coffin-lowry-syndrome.html
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