Lea’s Mutation

I’m a gene named Marcel, I live in the wonderful body of Lea Saviaro who is 10 years of age. Here is our journey…

Lea is 10 years old, born on June 22nd, 2006. She’s a very happy girl with a wonderful family and a beautiful home. However she was diagnosed with Spinal Muscular Atrophy at birth. She sometimes has troubles swallowing and breathing, it’s really upsetting. I wish I could do something but it’s incurable. She gets made fun for it a lot at school but I feel like she should be proud! Stephen Hawking had it and he was a genius!!

Lea is like this because my mother gene was broken and made a copy which is me, I feel guilty. Because of this malfunction, her body can’t produce a certain type of protein. Without it, the cells in her body that control muscles die. It’s the most severe type of Spinal Muscular Atrophy.

Lea is in a wheel chair and can’t support her head. She is tremendously lucky to have made it so far in life. She suffers from type 1 SMA and usually people suffering from type 1 sadly do not make it past 2 years old. This doesn’t stop her from playing games and having fun! She enjoys reading, writing stories and listening to music. She has a computer just like Stephen Hawking that she does all her work on. I’m very proud of Lea for being so strong and fighting this at such a young age.

During this project on mutations, in order to find out information on SMA, I had to search, how SMA affects people and children, different types of SMA, how is the gene affected, famous people living with SMA, etc.

I used google search for my information;

http://www.celebritydiagnosis.com/diagnosis_tag/spinal-muscular-atrophy

http://www.webmd.com/a-to-z-guides/spinal-muscular-atrophy#1

https://medlineplus.gov/ency/article/000996.htm

I looked up information on whether or not you can live life naturally and asked around family and friends who may have know anyone with this mutation.

I made sure the website’s address bar was verified by google and if there were any grammatical errors in the text.

It went well, I enjoyed working on this topic because it interested me since I hadn’t heard much on it and heard lots about other topics. For future reference, I would have looked more up on the subject to know more on how it would be to live as a person or child with this mutation.