Mutation Story

His name is Nelson, I’m one of his genes. Let’s not dance around the issue, I’m a gene that mutated, I was passed down from his parents who were both carriers. Please note that carrier does not mean the same thing as affected it’s perfectly possible to carry a gene and not be mutated yourself. The moment they saw him on the ultrasound they knew something was wrong, he had a very strangely shaped torso that seemed to form into a bell as it went downwards, then I heard them call my name “Spinal Muscular Atrophy”. What a wretched name, a diabolical title, the very utterance which seems to say “something’s wrong” (well it doesn’t but play along).

A mutation is when a gene is permanently altered by some outside force usually altering it for the worst, this usually came of exposure to radiation, overexposure to sunlight, or maybe a disease infected one of his ancestor’s cells. Genes can be deleted, duplicated, inverted, or substituted. Positive mutations aren’t unheard of but usually have no real meaningful impact, except on physical ability, it’s not like in the X-Men (granted I’d like to be able to shoot ice from my hands, heck I’d like to have hands in general, but no, I had to be a gene [We apologize for that digression, the brain cells responsible have been sacked]).

Spinal muscular atrophy is a recessive detrimental mutation, that limits the body’s production of survival of motor neuron proteins which are vital to motor neurons as the name implies. Motor neurons are neurons in the spine which allow the control of organs like muscles and glands, hence the name spinal muscular atrophy.

Nelson has a bell shaped body and brown hair, he has a penchants for criticizing film and playing video games, he has very weak muscles, and he struggles just to breath properly. Because of me Nelson needs help just to get out of bed, because his muscles are too weak to carry him far. He needs to be very careful when eating because he has trouble swallowing, I can’t count how many times he’s had to cough something up. I wish I could do something about it, I wish his tongue didn’t slither around his mouth uncontrollably like an eel with its tail stuck in an oyster, I wish everyone didn’t blame me for something I have no control of, it’s not my fault I was a mutated gene in the same way it’s not his fault for being a mutant.

A few weeks ago his parents decided it was finally time for him to go to public school, this notion frightened him more than any surgery, he knew the students wouldn’t easily accept him, he looked like someone who couldn’t form words, and he was always followed around by someone to help him sit, stand, and even swallow. But despite his argument he ended up agreeing anyways.

The door opens when he pushes the silver wheelchair button, and he rolls in on his little wheelchair, people on all sides in their little groups diverting their eyesight away from him, well he wasn’t wrong. He meets his helper who takes him to the support group, everyone else here needed special help too, but he didn’t feel like he belonged. “Boing, boing” the going to class bell went, his helper wheeled him over to his classroom, he knew no one would insult him, they had no reason to, plus he had a staff member with him, but on the way he heard two girls say “Hi Nelson” It didn’t sound sarcastic, it didn’t sound genuine, it was just an empty compliment to make him feel better, this hurt him more than any sharp words, but he didn’t let it get to him… Yet.

Class begins, the teacher tells everyone to get into groups, everyone else beelines for their friends, but not Nelson, Nelson didn’t know anyone, Nelson didn’t feel like getting to know anyone, so the teacher paired him up with some people. Even in a group he was alone, everyone else was talking between themselves ignoring him, so he did the project himself, granted he did the project better than his whole group, but he received his group’s mark anyways.

It was lonely at lunch, most people were sitting in their respective groups, I wondered how people could form groups in the first week of school. Nelson was all alone except for his helper, he was losing hope at ever fitting in, he was on the verge of tears even though it didn’t show, and his breathing felt even weaker than usual, he… “Excuse me?” He heard a voice, Nelson turned his tilted head, a kid about his age, he looked almost completely normal except that something about his face looked off, never mind what exactly. “What is it?” His helper asked, “May I sit here?” The boy asked, “Sure if it’s alright with Nelson” Nelson weakly nodded his head. They sat there silent for at least a minute eating their lunches, until the boy said “Uh, so I heard you have a mutation” “Yeah” Nelson replied, it turns out that the boy had a mutation too, they met every lunch to talk about mutations, games, or movies, they worked together in the classes they were in, and before he knew it he had made a friend.

By Friday Nelson was standing as straight as his weak muscles allowed him, his mother asked him how his first week was, Nelson could only weakly reply “It was good”with a strong grin on his face. If I had teeth (or a mouth for that matter) I would be smiling along with him.

Ask: How can I make sure everything I’m saying relevant things about genetics? What can I do to make my story engaging?
Acquire: My strategy was first to look up information on Wikipedia, then confirm my information on other websites. I was originally going to get a book on mutations and watch a video on spinal muscular atrophy but I didn’t have enough time at the end.
Analyze: I looked up most if not all of my information on Wikipedia and I probably could have used a better strategy, I ended up only using one other site for my research which I’ve listed down in the sources below, but if I know Wikipedia, then any highly detailed scientific explanation will be mostly accurate.
Assess: Overall I’m proud of my work on this project I think that the story overall worked out and was a decent length, if I could go back and change anything I would triple check it to make sure everything’s coherent, flesh out the scientific aspects more and integrate them more with the story.
Sources: https://en.m.wikipedia.org/wiki/Spinal_muscular_atrophy
https://en.m.wikipedia.org/wiki/Mutation
https://ghr.nlm.nih.gov/primer/mutationsanddisorders/genemutation

Image Source: http://radiopaedia.org/articles/spinal-muscular-atrophy