Mitochondrial Diseases
Every cell in the human body contains structures called mitochondrion. These structures are organelles, which mean that they act as miniature organs for each cell (Tzagoloff 1). Mitochondria are the starting point of the metabolic process and are one of the most essential structures in the human DNA. Without these structures basically every part of the human machine would shut down and life could not exist (Wallace 2). A brief and easily comprehendible way to explain the exact purpose of mitochondrion is comparing them to a power-plant. When food is first consumed the nutrients are sent to the mitochondrion and then they are altered into a chemical which the body can then use as energy (Naviaux 3). It is obvious how important mitochondrion are, and the terrible things that could come if they did not function properly (Whittaker 24).
My niece, Isabelle, was born a healthy child, somewhere around 6 pounds. She was a beautiful child, of whom by looking at her one could not notice any physical signs of birth defects or illness. Once Isabelle had been discharged after birth she went home and put a smile on everyone's face. It was shortly thereafter that my sister noticed Isabelle's lack of weight increase; she was actually down from her original delivery mass. The first time she was taken to the emergency room, Isabelle was just diagnosed as having usual infant weight loss, and told that she would become larger very quickly. As the weeks went by Isabelle did not gain weight as the doctors promised, and was rapidly becoming lighter and lighter. Isabelle is now four years old, and is a very happy child. She loves to get out and play with all of her friends, and do things that all children enjoy doing. She was diagnosed with having a mitochondrial disease/disorder that disables her small bowel's ability to absorb nutrients. As Isabelle continues to fight for her life each and every day, it has become an important issue in our family to learn...
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