The life of a genetic mutation-COL
Down Syndrome
Hi I am the genetic mutation called Down syndrome. My mutation occurs when my host has an extra chromosome 21. This is known to happen when the sperm and egg develop. What happens to me is when the sperm and the egg are splitting from 46 chromosomes to 23 pairs one side has an extra amount. This means that instead of 23 there are 24. When the egg is fertilized my host now has 47 chromosomes instead of 46. Basically when I occur there is a mix up when splitting into chromosomes. Unfortunately doctors haven’t found a cure for my host or anyone else with down syndrome. I occur by chance which means my host’s parents are most likely genetically normal. They also haven’t uncovered any type of really effective ways to prevent me from happening. The only thing that doctors really know about me is that I have an extra chromosome 21. My host doesn’t last as long as others when they are diagnosed with me. My host is a happy 12 year old boy who lives his life just the same as anyone else with a few differences. This is the story of my hosts and my life as we grow older.

Effects
My host was diagnosed with my genetic mutation at birth. My host was diagnosed with Down syndrome with the specific type of trisomy 21. Some common effects that I have on hosts are usually associated with physical growth delays, facial feature defects, and mild to moderate intellectual disability. My host was born with a flat facial appearance, eyes that are slanted upwards, small ears, and a larger tongue. He has very low muscle tone. When my host was born they were said to be “floppy”. As my host grows up he will develop slower than everyone else including his IQ. A person with Down syndrome typically has an around 50 IQ points. This means they have the mind of an 8 or 9 year old. My host has lots of people who care for him such as his parents and other family and friends. Each day he has the same routine before going to school. At school he gets to be around his classmates but sometimes he gets to go on brain breaks. My host is not the only one in the school that has Down syndrome. He also has another friend and sometimes he gets to have brain breaks with him. Once a week my host and I go visit the doctor and the doctor will take a look at me to see how I am treating my host. It’s a good thing my host was diagnosed In this time because doctors have been able to expand my hosts life expectancy to over 30 years. My host and I also go to basketball on Saturdays with our friends from the hospital group. He sure does love basketball and I love to be there to play to. We won’t have as long a life as everyone else but we try to make each day count. My host deals with me quite well and lives his life as best he can to any other kid.

QUESTIONS I HAD:

What is Down syndrome?

What effects does Down syndrome have on people?

What happens for someone to get diagnosed with Down syndrome?

Have doctors found a cure or an effective way to stop it?

What is the life expectancy for someone with Down syndrome?

Is there anything others can do to help with Down syndrome?

Are there different Types of Down syndrome?

What is in a day of a life of someone with down syndrome?

From past COL projects I have learned many tools I can use of doing re search. The one that made the most sense to me was to use the discover, dream, debrief. I found theses steps the easiest way to find the information I needed for this project. Also I think coming up with my own questions and also using my curiosity to find what I needed as well. For each site I used I made sure to check the information with other sites. Most of the information I collected was correct with the exception of some odd website. Each site I used I checked for the government and copyright information on each site. The information I collected seemed very interesting and usable for this project. I learned new things about my subject that I have never learned before and I would in the future like to go deeper into this project. I wanted to make this project easy and understandable for others to see.

DEBRIEF
While researching and learning about Down syndrome I kept on getting interested as the research went on. I got to learn about what people with this mutation go through, how they get diagnosed, what the doctors are doing to prevent it, what they look like, and all the different types. This project really expanded what we were learning in science with the chromosomes and mitosis and meiosis. I really got to understand how genetic mutations occur and what we can do to fix them. I also enjoyed doing this project because I got to be creative and put myself in the cells shoes which was hard yet interesting at the same time. In the future I would like to explore this subject even more and see what else we may be able to do. I got to comprehend what actually goes on in our bodies and the complications that can go on. I wonder if I’m the near future we can fix all these genetic mutations and fund ways to prevent them. Otherwise I think that people should live there lives no matter whether they have a genetic mutation or not. This project made me realize that there are so many things that go on in our bodies that we don’t even know about. If we can learn the technology in the future to put a stop to Down syndrome that would be very interesting to see.

Jane Mackinnon