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Progeria: The Rare “Aging Disease” Essay

2574 words - 11 pages

The chance of having a baby with Progeria is about 1 in 4 – 8 million (“Progeria 101/FAQ"). That means that there are approximately 200-250 people diagnosed with Progeria in the world at any point in time (Progeria 101/FAQ"). Sam G. Berns was among that small amount until he passed away early this year, on January 14th, from complications of Progeria at the age of seventeen. He was an intelligent junior who attended Foxboro High School in Foxboro, Massachusetts. During his life, he reached the level of Eagle Scout in Boy Scouts, was a percussion section leader in his high school band, spoke at two TED conferences, and was interviewed on national television (ABC and NPR). His hometown is a mere 10 miles from my own, causing me to learn about his life’s journey from the community. At seventeen years old, he had the body of a one hundred and thirty-six year old man. For those who have Progeria, aging is eight times faster than the average person and starts within the first years of life ("Children Living With Progeria”). Sam’s inspirational life was the central reason for my decision to research the biology behind Progeria and seek knowledge of the lives of those who have been inflicted with it.
Before researching, I knew little about Progeria’s causes, treatments, and symptoms. All I knew was that children living with it had similar appearances due to their premature aging and that they would pass away at a young age. After the death of Sam Bern, I asked my mother, a nurse practitioner, if she had ever seen a patient dealing with Progeria. She replied saying yes that she had during her time at Children’s Hospital in Boston. The boy she had seen was bright spirited despite his constant pain, and was determined to live as best as possible. My mother then told me he was on a lot of medications for a variety of symptoms, usually seen in the elderly. Her explanation aided to my curiosity, and I realized the fast amount of interesting biology behind the disease. Additionally, I wanted to examine the impacts on the individuals’ lives, and how they manage a disease that has yet to be cured.
The type of Progeria Sam had is called Hutchinson-Gilford Progeria Syndrome, “child Progeria” rather than Werner’s syndrome, also know as “adult Progeria”, that does not occur until late teens, resulting in longer lives into the 40’s-50’s (“Progeria 101/FAQ"). Progeria has a vast amount of symptoms that the majority of those suffering deal with as well as symptoms that are seen less often. Throughout early infancy, children with Progeria resemble normal infants’ physical appearance. Around age 1 or 2 they begin to display extreme growth delay causing them to be short, and have low weight. Their faces appear to be small compared to their head size; furthermore, their faces seem shrunken, wrinkled, and slender. Skulls will have visible veins along the forehead, nose-bridge, as well as the other areas across the head. Other symptoms include having a small jaw,...

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