My Mutation Story: Progeria

Progeria; the mutation that makes Elise different, but unique. The mutation that changes her life in such a big way. Her life won’t be the same as others. She won’t get to play soccer with the other kids, or be able to go to the mall without being stared at and given dirty, disgusted looks. Instead, she’ll be in and out of hospitals. Being tested here and there all because the mutation is so rare. Elise won’t be able to be a normal kid, and it’s all because of me. I’m Elsa, the one cell that was mutated, making Maddie have Progeria. A disease that’s gonna change her life.

 

I am the cell that caused the mutation. I did it, but not intentionally. I would never hurt Elise. All of this happened because my nucleus is abnormally shaped. Most nuclei are more of a circle, whereas mine, the sides of my nucleus fold inwards toward the center. In the nucleus, the LMNA gene produces a protein that holds the nucleus together called the Lamin A protein. Researchers believe that the Nucleus can now be unstable because of the defective Lamin A. The leading of the process of the cellular instability appears to be the reason of the “premature aging” in Progeria.

 

The mutation is a very rare disease. So far, there have been about 118 cases of it. Progeria is one of the rarest cases out there. The average lifespan is about 14 years. What if Elise dies young and it’s because of me? I may be the reason she may not grow up to finish school, or get married and settle down. She might just die.

 

Progeria is a mutation that doesn’t affect the mind. Physically, it does so much to the body. It makes it prematurely age, very fragile. But the mind is different. Progeria doesn’t affect it. The most it could do is Physiological “damage”. What if Elise cares too much of what other people think? It could hurt her horribly. But to me, she’ll be my smart, courageous, and talented Elise.

 

I’m sorry that I’ve failed you Elise. I had one job; to give you the perfect life you deserve. But, no, I gave you Progeria. I’m sorry that you won’t live a life where you can play with other kids without being made fun of. That you have to be I and out of hospitals. It may be a bad thing to you, but I think that you’re beautiful in your own way. It’s okay to have Progeria because it makes you the unique and wonderful person you’ll turn out to be.

 

 

What questions did you need to research in order to create your mutation story?

I had to research quite a bit. I watched a lot of talk shows that featured people with the mutation, I looked and read through news articles, skimmed through a lot of diagrams, there was a lot. I can say that I am proud of my story because after all the research I did, I feel more grateful, and grateful every single day that I was born without a genetic mutation and that I am able to do what most kids can.

What new or familiar digital tools did you use as you worked through this project?

I didn’t really use anything. Only my buddy the internet and I.

What was the process you used to investigate the topic?

Like I said, I  watched talk shows and interviews on people with Progeria. They talked about the mutation and how it forms and the internet so I used the material that was in front of me. Nothing special!

How did the process of completing this challenge go? What could you have done better?

I wish that I could’ve saved the sites I got the information from, but I forgot about the citing process, and I should’ve started my project earlier than I have so I could make my story better because qu8ality over quantity is the way to go!