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Which genetic disorder
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Which genetic disorder
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For years now, genetic testing has been one of the many standard medical practices used by doctors and researchers that identifies irregular mutations and/or defective genes that are susceptible to causing harmful disorders. Medical diagnostics, such as genetic testing and genetic sequencing, pinpoint abnormalities and help researchers identify if these disorders are hereditary. “One of a Kind” and “Advances in Kids’ Early Aging Disease” are two well-written articles that examine rare genetic disorders and the stories behind these disorders. Seth Mnookin, author of “One of a Kind,” tells the story about the search for answers for a little boy, Bertrand Might, who at the time was the only known patient suffering from an uncommon genetic disorder. …show more content…
Her article, “Advances in Kids’ Early Aging Disease,” is more of an informative article that educates the readers about the genetic disorder itself, rather than telling the personal story of Devin Scullion. Devin, who was born two months premature, was shortly diagnosed after birth with Hutchinson-Gilford progeria syndrome, also known as progeria. Throughout her article, Young rarely refers back to Devin and his family. Devin is just another example of a child who suffers from progeria and, instead of providing personal stories and the emotional appeal behind his condition, Young provides more general facts about the disorder. For example, Young states that, “Children with the disease have a genetic mutation that causes them to produce the protein progerin, which blocks normal cell function” (Young). In this example, Young refers to children in general who suffer from progeria, not particularly Devin. Even though progeria generally affects children in similar ways, each child experiences different side effects and copes with the disease in a different way. In her writing, Young rarely refers back to Devin’s conditions. When contrasting both Mnookin and Young’s article, Young lacks the use of personal stories and emotional appeal in her writing, creating a more difficult connection between the readers and the text. By adding those two elements in his writing, Mnookin is successfully able …show more content…
Young uses an informative tone to provide straight facts that pertains to the genetic disorder in general. While Mnookin wrote in more of an informative, yet sympathetic tone, Young maintains an informative tone throughout her entire article by providing general statistics about progeria. For example, she states that, “progeria affects approximately one in every 4 million to 8 million infants” (Young). Young provides very informative facts and explains that children with progeria are inclined to develop difficulties with bone density and rigidity. Throughout her writing, Young keeps a very formal, informative tone which differs from the informative, yet sympathetic tone Mnookin used in his article. Young also states, “In general, the weight gain seen among patients was small, but still measureable” (Young). In this quote, Young mentions other harmful effects that the disease poses on young children, such as the inability to gain proper weight. Even though she maintains an informative tone, Young lacks a sympathetic tone and rarely refers back to Devin and his family. In contrast to “One of a Kind,” Mnookin’s use of an informative, yet sympathetic tone which allows the readers to make more connections with the
These two essays are about two dissimilar disabilities. Nancy Mairs and David Sedaris act as examples of how an author’s writing can change the tone and meaning of a narrative. Mairs message was educational and encouraging as she explained her life with MS and how society sees her. Sedaris use of experience and memories portrays his life with obsessive-compulsive disorder; what he calls “tics”. These two writers take similar topics and pitch them in ways so the reader can see the illustration behind them.
At the beginning of the story we are introduced to George and Hazel who are an ordinary couple that consequently suffer from handicaps. They are recalling the time when their son, Harrison Bergeron, was taken from his home by the handicapper general. It was an unhappy thought “but George and Hazel couldn't think about it very hard” (Vonnegut 1) due to the mental radio that separated the two from regular functioning emotions. Although Hazel was not affected by the handicap itself, it became a societal norm to act almost robot-like. This tendency provoked Hazel to the point where “there were tears on [her] cheeks, but she'd forgotten…what they were about” (1). The loss of emotion has taken the citizens’ entitlement to experience not only happiness and love but also sadness and grief. These are all traits that people need in order to operate like normal human beings. When George and Hazel witnessed the traumatic murder of their son on television, George automatically forgets due to his mental radio. Hazel, however, reacts to the frightening scene in front of her but forgets the occurrence just as fast. When asked by George what she was crying about the only thing she can recall is that the incident was “something real sad on television” (6). In consequence of the failure to express emotion, the difficulty of evolving society
Harrison Bergeron’s mother, Hazel Bergeron, is the definition of the Handicapper General’s “normal” and model for enforced equality. Everyone must be leveled and thereby oppressed to her standards. Hazel’s husband, George Bergeron, is no exception. “‘I’d think it would be real interesting, hearing all the different sounds,’ said Hazel, a little envious. ‘All the things they think up.’” (Vonnegut 910). George suffers from his own comically ludicrous mental handicap. The fact that this incites jealousy in Hazel reaffirms the artificial equality Vonnegut ridicules. The author satirizes oppression in American society through his depictions of misery and restraint exhibited in his characters’ ordeals. “The different times that George is interrupted from thinking, and his inner monologue is cut, we have a sort of stopping his having dialogue with himself. So he can’t have a unique personality, which itself involves his worldviews” (Joodaki 71). Not being able to know oneself epitomizes
Her essay is arranged in such a way that her audience can understand her life - the positives and the negatives. She allows her audience to see both sides of her life, both the harsh realities that she must suffer as well as her average day-to-day life. According to Nancy, multiple sclerosis “...has opened and enriched my life enormously. This sense that my fragility and need must be mirrored in others, that in search for and shaping a stable core in a life wrenched by change and loss, change and loss, I must recognize the same process, under individual conditions, in the lives around me. I do not deprecate such knowledge” (Mairs, 37). Mairs big claim is that she has accepted herself and her condition for what is it, yet she refuses to allow her condition to define her. Through her particular diction, tone, satire, and rhetorical elements, Mairs paints a picture of her life and shows how being a cripple has not prevent her from living her life. She is not embarrassed nor ashamed of what she is, and accepts her condition by making the most of it and wearing the title with
In the book it says "They can spend a whole lifetime worrying whether they 're carriers, and then we come along and offer them a test. Recessives and X-linked. Look what they 're doing with fragile-X nowadays. And cystic fibrosis. Just imagine the commercial possibilities if you can design and patent a probe for something like Gaucher 's disease...(69)" Recessive traits is the phenotype is seen only a homozygous recessive genotype for the traits of the interest is present. The booked talked about two of three diseases that are most common in the Ashkenazi Jewish population. The first one is Cystic fibrosis which is an inherited life-threatening disorder that effects the lungs and the digestive system. The other one mention in the book that wasn’t mention in class was Gaucher 's disease. Gaucher 's disease is a build up of fatty substances in your organs, usually in you spleen and liver. Which causes them to become bigger affecting their function. The last one that we learned in class was Tay-Sachs disease, which is a rare inherited disorder that destroys nerve cells in the brain and spinal
For this paper I read the novel The Memory Keeper’s Daughter by Kim Edwards, this novel is told in the span of 25 years, it is told by two characters David and Caroline, who have different lives but are connect through one past decision. The story starts in 1964, when a blizzard happens causing the main character, Dr. David Henry to deliver his own twins. During the delivery the son named Paul is fine but the daughter named Phoebe has something wrong with her. The doctor realizes that the daughter has Down syndrome, he is shocked and age remembers his own childhood when his sister was always sick, her dyeing at an early and how that effected his mother. He didn’t want that to happen to his wife, so David told the nurse to bring Phoebe to an institution, so that his wife wouldn’t suffer. The nurse, Caroline didn’t think this was right, but brings Phoebe to the institution anyways. Once Caroline sees the institution in an awful state she leaves with the baby and
...s course because it helps to increase awareness and sensitivity to those with disorders and diseases. The book helps the reader better understand the challenges such individuals have to overcome. In addition, Fox’s humorous nature presents challenges brought on by his disease at a unique angle so the reader can see both the demanding affects it brings and the many opportunities that are available to affected individuals.
There are less than three hundred cases of Hutchinson Gilford Progeria Syndrome in the world.(Asselin, 2014) The possibility of being born with it is obviously extremely small. Even though the possibility is small, the need to know about it and understand it is great. The people impacted by HGPS are merely children. They are innocent children with their lives cut short. All of this happens because of a small change in their genes.
Hutchinson-Gilford Progeria Syndrome other wise known as “Progeria”, or “HGPS”, is a very rare, and fatal genetic disorder characterized by an appearance of accelerated aging in young children. The rate of aging is accelerated up to seven times that of a normal life span in first 13 years of life. Progeria comes from the Greek word (πρό), “pro” meaning premature and (γῆρας), “gerias” meaning old age. While there are different forms of Progeria, the most sever form of progeria is formally known as Hutchinson-Gilford Progeria Syndrome, which was named after the doctors in England: in 1886 by Dr. Jonathan Hutchinson who described the syndrome, and by Dr. Hastings Gilford who independently discovered it in 1904 (Jameson).
In the film, two contrasting examples of genetic testing are shown. The first example is of the twins Noah and Alexis Beery, who are stricken with a rare disease that mimics cerebral palsy. Through genetic testing, doctors discovered that the twins could be treated with dopamine. By sequencing their entire genome, the twin’s lives were saved. The second example is Andrew S...
Middle school is a hard time on girls with bullying, trying to fit in, and figuring out who they are. People don’t realize that middle school is a time when children are transitioning from childhood to the teenage years, which can come with emotions like confusion and frustration. Living with a rare birth defect adds more pressure to a young teenager. They’re different physically and children become more aware of that in the middle school years. This can cause even more bullying and possibly make the child feel like an outcast. Girls are brutal at this age by leaving others out and hurting others’ feelings just because they aren’t like everyone else. This can make it harder for those girls with birth defects to cope with the transitioning and stress of middle school. If these girls are bullied for just a few physical differences, it may be worse if they have another defect or disease causing yet another difference. Middle school girls diagnosed with Poland Syndrome - “described as an undevelopment or absence of the chest muscle on one side of the body and webbing of the fingers on the affected side” (The Genomics Landscape) - not only face more emotional issues than other girls their age, but they have more physical and immunity issues as well. This paper will examine the background information of Poland Syndrome, emotional stories of middle school girls with Poland Syndrome that went through stressful times with their birth defect, and how people with Poland Syndrome are more susceptible to other diseases and defects than others.
Aging affects every individual and is inevitable, despite our valiant attempts to prevent it. The aging process beings the moment of conception however some can argue it begins at birth. The process of aging is heavily impacted by health, genetics and environmental factors. As people age we have to become accustom to the changes associated with life. The question becomes what changes happen and how? Although we cannot predict what will happen to us we can work to prevent specific things from happening by living healthier lives.
People label things as “normal” because they have become habituated with these things. Beth Harry’s book, Melanie, Bird with a Broken Wing, her ideal view of a mother is challenged when she gives birth to a child with cerebral palsy. Through her story, she provides an insight into what she felt as a mother of a child with a disability and her journey up until Melanie’s death. The memoir left me with mixed emotions because, in the beginning, Harry expressed her thought of wanting her child to die, if the child had caused any trouble. Harry challenges my core beliefs and values, however, through Melanie, I was able to see Harry grow as a mother and a person. The little ackee seed sprouted a new perception for her mother, as well as it did for
The "Genetic Screening" Genetic Screening. NDSU,. Web. The Web. The Web.
Parents now have the possibility of testing genes for mutations and genetic problems (BBC News).