Racing With Sam Analysis

Progeria is one of the least known genetic disorders. There are two types of Progeria, the only difference being the age group that it affects. The Hutchinson-Gilford Progeria Syndrome is commonly called Childhood Progeria. The second type of Progeria is Werner’s Syndrome, which is the adult form of Progeria. What basically happens in this disorder is that age is accelerated seven times faster than that of a normal person. For example, for Hutchinson-Gilford Progeria Syndrome, a child could look like he is fifty when he is actually five years old. A twenty year old with Werner’s Syndrome could look similar to a sixty or seventy year old person. There is, even now, not much information known about this genetic disorder because

     Progeria is an autosomal recessive disease, which means it is not carried on a sex chromosome. Hutchison-Gilford Progeria is caused by a mutation in Lamin A. Lamin A is a fibrous protein involved in the structure of the nuclear membrane. When there is a mutation in Lamin A it is likely the nucleus loses its normal shape and therefore its function is compromised. As of now, it is known that this is the cause of Progeria itself; however, neither doctors nor scientist can determine what this mutation has to do with the aging-like deformities of Progeria (Kugler).

Jonathan Hutchinson in 1886, and eleven years later by Dr. Hastings Gilford, using the two names the disease got its first name Hutchinson Gilford syndrome. Both doctors stating the scene of pre-matured kids. Currently humans are the most discussed primary organism to be affected by Progeria. As said in the beginning, Progeria is extremely rare, so rare that approximately only one in four to eight million newborns get it. With those odds said, it approximated that only 200-250 kids worldwide have this condition. Now parents usually don’t pass down progeria to their children, and both boys and girls have equal chances of getting this disease. In the race to help ease/cure the effects of progeria, there was an European clinical trials, created mice to model the effects of progeria, they did this by injecting the genetic mutation G608G, which is the genetic mutation responsible for progeria in humans with progeria. After 3 weeks were over many of the mice had started to show the symptoms of progeria, such as weight loss, growth defects, and cardiovascular and metabolic anomalies. These mice were later on, used to find a “mutation-targeted treatment”. With the new treatment developed, the Europeans were able to increase the mice’s lifespan from 155 days to 190 days, adding a stunning 35 days more to the mice’s lives. One of the major impacts that this disease, was made by a 17 year old boy named Sam Burns, he became increasingly popular

During the argument, a medium shot shows Sam laid on his bedroom floor entertaining himself with a toy, overlaid with sound of his parents arguing. This informs the audience that this is nothing new. In the foreground, to the left of the frame is a toy castle, which hints at the horror genre but rather a contemporary setting. In contrast to the family’s suburban location, the cult members are located within the landscape and represent the wilderness and unpredictable nature.

In the year 1943, two scientist, Martin and Bell, took on a case of mental retardation in a family. Through their investigation of the family, they were able to find a mark, or difference in a spot of the X-chromosome. There was extended information on the arm of the X chromosome causing the difference in looks for the family. More research was done when people began to map the gene in the 60’s and 70’s, and there was specific characteristics identified with the syndrome. With the discovery of the characteristics scientist could compare the affected males in the family compared to the unaffected women and find physical and genetic differences.

Birth defects are health problems that occurs when a baby is developing in uterus (in the womb) of an individual (Healthline Editorial Team, 2017). This defect may be caused by genetic disorders, problems with chromosomes, or environmental factors; disorders such as mandibulo-facial dysostosis, cleft palate and spina bifida. The lives of people with severe birth defects conditions are often contributed by stigma as well as discrimination. Stigma is a major cause of discrimination which leads to rejections, being scorned and gossip at; isolated socially, bullied; and even labelled. The book, Palacio, R.J Wonder, 2012 demonstrated the story of a boy named August or “Auggie” Pullman, a ten-year-old boy living in Manhattan who was born with severe birth defects (mandibulo-facial dysostosis and a cleft palate) which left him severely disfigured. It was difficult for him to make friends. He lives with his parents, his older sister Via; and his dog Daisy. August was homeschooled up until the fifth grade but his parents decided it was time for him attend a real school. They enrolled him in Beecher Prep, a neighborhood private school. There August (Auggie) was faced with many obstacles during the school year because of his appearance. He dealt with many stigma and discrimination from both students and parents.

Trisomy 18 and 13 began to appear in literature in the early 1960's. During this time both of these diseases were considered fatal. A majority of the documented information obtained on these chromosome disorders was gathered from case studies. Even to the current day, these are very deadly syndromes that often kill within the first year of life but due to medical advances can now have life sustained (Nelson 2012). In a study from 1968 some of the clinical features of Edwards syndrome include an elongation of the

That summer had been his favorite.Jensen thought back to where they would spend time at the lake around where their uncle lived. Him and Sam would sit on the dock and Jensen would read books and tell stories to the younger boy. Sam started making up his own stories filled with imagination to tell Jensen, since he was too young to read to him. Jensen smiled as he recalled Sam’s favorite story to tell, one about

Standing in a room full of children affected by the disease, you would think they all were all brothers and sisters because they all share the same characteristics and look respectably identical. The rapid growing of their body puts stress on the body that allows them to pass away from heart attacks and strokes early as the age of four but overall the average death age for children living with Progeria is thirteen (Biotech,2009).

Sometimes in the world babies are born with deformities or a type of mandibulofacial dysostosis. The book we read is about a little boy who is just now starting fifth grade. His name is Auggie, and he has a sister named Via. She explained what he looks like when she said, “he doesn’t have ears, his face is kind of long, his eyes aren’t really where they’re supposed to be and he has a lot of scars.”

April of 1956 was when the cytogeneticists Joe Hin Tjio and Albert Levan at Lund University in Sweden discovered that the typical number of chromosomes in diploid human cells was 46-not 48 as had been believed for the previous thirty years. In the earlier years of the research, experimenting, and treatment testings, they discovered the cause of Jacob’s syndrome. Jacob’s syndrome is a rare, chromosomal disorder that affects males. It is caused by the presence of an extra Y chromosome rather than the typical male possession of one X and one Y chromosome meaning that individuals with this syndrome have one X and two Y chromosomes. With the showing of the atypical symptoms that are linked to this disorder, the seemingly affected males are tested,

In 1866, an English doctor named John Langdon Haydon Down described a certain type of mental retardation that suffered from some people. Because it is the first wrote about it, the disorder became known as Down syndrome. However, Dr. Down did not know exactly what cause this syndrome. Almost 100 years later, a French geneticist named Dr. Jerome Lejeune found that the cause of the syndrome, by a problem with the number of chromosomes that the person has. Chromosomes are structures similar to a thread which are in the midst of a cell that carries the genes.

Progeria is a rare genetic disorder causing one to age rapidly. It was founded in 1886 and in 1897 by doctors in England by the names of Dr. Hutchinson and Dr. Hastings Gilford. Hence the doctors that founded it, it also goes by the name Hutchinson-Gilford Progeria Syndrome. This disease is quite rare and only affects about 1 in 20 million people in the world. Most children diagnosed with progeria often die of complications like atherosclerosis, which is a buildup of plaque against artery walls that causes tearing of the blood vessels. When a child is born, the parents cannot necessarily tell their child has progeria. The characteristics are typically reflected within the first two years and then that child is diagnosed with

“Sometimes I had to be brave and it wasn't always easy. Sometimes I had faltered. I had bad days, but I realized being brave isn't supposed to be easy,” stated Sam Berns a fighter of the devastating disease, Progeria. Progeria is known to affect 250 children world wide, but it causes a dramatic impact on their lives. Children are known to die very young because of this horrible disease with no cure. Progeria is an aging disease that causes children's’ bodies to age faster than the normal growing rate.

Sam scanned the room in curiosity, but remained silent. The room was dimly lit and damp. Small candles made the room feel mysterious and the shoes upon Sam’s feet snapped as he made his way around. Mold covered the walls, making the room feel humid. Both Sam and Mr. Franklin stepped into the room before making their way to the end of a long hallway. Mr. Franklin, who had been leading Sam throughout the house, turned around briskly and asked to have everyone's attention. The room was filled with small children not unlike Sam. He introduced Sam to the group, and started to conduct his plans accordingly. He announced that these children were a part of a rebellion, and he didn’t expect them to understand, they were all against something bigger than themselves. He made himself seem sincere and he seemed to regard himself as being exceptionally