5 June 2013
A Rare Occurance: Randy Shows He Has a Heart
I had one close friend for the first seven years of my life. His name was Anthony, the son of my mom’s friend from high school. He had auburn hair like the computer desks we used to draw on and blue eyes that matched the color of his childhood room. His smile was a gleaming bright summer day amongst dreary winter skies and his freckles were the outlines of constellations. He loved to run and loved to play with train sets like those they have in the waiting rooms of doctors’ offices, due to the fact he spent a large amount of his time there. He probably didn’t understand the gravity of his situation, but Anthony was born with many problems revolving around his heart, his spine and his brain. Although none of these originally crippled him physically, most days when I’d ask to go to his house he was either stuck in having a surgery or cat scan or MRI. By the time he was in the second grade, he’d had over six major surgeries to repair a hole in his heart. Eventually, his conditions lessened and lessened and I got to spent more and more time with him and we grew closer and closer and we played and laughed and danced and did everything best friends could do together. However, at the age of eight, Anthony suffered what they originally thought was a brain aneurism and required extensive hospitalized care. After running tests upon tests, the doctors at Centrastate Hospital were able to find what was truly wrong with Anthony his entire life: he had a birth defect known as Metachromatic Leukodystrophy, or MLD. This is a very rare recessive disorder that’s inherited through the genes of parents, and in simple terms, it attacks the nervous system of the body until there is nothing left, until the body is simply a shell and the mind cannot think or act on its own. There is currently no treatment for MLD, and because of that, Anthony has become what many people would consider a “vegetable”, essentially brain dead but still functioning bodily. His auburn hair is now ash gray and paper thin, his blue eyes no longer hold any gleam, he can no longer smile and his freckles are invisible. Because of this, because I really just cannot bear to witness another beautiful kid be destroyed by his own genotype and because its happening far too often with far too little treatment, is why I aspire to be a cytogeneticist, what I consider to be a scientific hero.
Cytogenetics is defined as “the study of chromosomal abnormalities underlying human diseases”, or in more basic terms, the study of genetic disorders and their affects on humans (Careercenter.tamu.edu). As a cytogeneticist, one has to be able to prepare and raise biological substances such as cell cultures, use complex mechanical machines and microscopes to analyze chromatic strains as well as heredity charts, and is required to know how to engage in techniques like fluorescence microscopy (the use of radiation to view substances instead of a reflection), agarose gel electrophoresis (a process which allows one to view singular strands of DNA fiber), and PCR (the replication of many DNA strands in order to get a broader view of a disease). My typical day would most likely involve the use of one or more of these techniques in a closed facility to do research on diseases like MLD, as well as other more common chromosomal disorders like Downs Syndrome and Edward’s Syndrome. I’ve always had a strong love for biology (especially the concepts of heredity and genetics – I used to draw Punnett Squares for fun!), and this field essentially encapsulates everything I’d enjoyed learning about in class. The career, does, however involve a few personal drawbacks; it involves working with substances such as blood, amniotic fluid and tumors, which is a bit of a challenge because I’m quite squeamish about those particular body parts, and it requires exhaustive work hours that require a kind of patience I have to develop before I…