Mutation Story.

I didn’t mean for this to happen. It wasn’t my intention but I can’t stop it. My official name is Lamin A/C but most people know me by my symbol LMNA. I’m the gene that caused Ross to have Progeria Syndrome. I am responsible for this.
I give instructions for making a protein called Lamin A. Now this protein plays an important role in determining the shape of the nucleus within cells. My protein is an essential supporting component of the nuclear envelop. Mutation that cause Progeria Syndrome is due to the abnormal version of the Lamin A protein. Which makes the nuclear envelop unstable and progressively damages the nucleus, making cells more likely to die prematurely.
You can’t imagine how I’m feeling right now. Because of my mistake, Ross now has Progeria Syndrome. For those of you that has no idea what that is, it’s a very rare, fatel genetic condition that makes aging in children way faster. The average life span of child with Progeria is age 13-14 and death is usually due to heart attack or stroke.
After Ross was born, he looked normal, he was happy, he was fine. Within that year though his growth rate slowed significantly. Later he started to develop appearance characterized by baldness, aged looking skin, a pinched nose, and a small face and jaw relative to head size. He also have symptoms typically seen in much older people including joint stiffness, hip dislocations and severe progressive cardiovascular disease.
He is now 7 years old, half way through his life as doctors know it. It’s hard for him, and for his loved ones. Yet Ross is not letting the disease get in his way of enjoying life. He’s always smiling. His smile makes his family stronger.
I’m sorry Ross that this happened to you. I’m sorry that you have to deal with this horrible disease because of me. I’m sorry even though you will never know how I feel. I’m sorry that there is no cure for this yet. I’m sorry.

The End.

Making of the story

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