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English, 09.10.2019 05:00 bncm766

Which statement best describes the relationship between paragraph 5 and the text overall?

treacher collins syndrome, named for edward treacher collins who first described its symptoms, is a rare congenital1 disorder that impacts facial features. people with treacher collins often have missing cheekbones, downward slanting eyes, hearing loss, atypical2 or missing ears, and a smaller jaw. this syndrome is also quite rare and is identified in about one out of every 50,000 births. some cases of treacher collins syndrome are very mild, while other cases could be life-threatening. nevertheless, treacher collins syndrome does not negatively affect a person’s cognitive3 ability.

people with more severe cases of treacher collins syndrome may require several medical procedures and many surgeries. to begin, many individuals with treacher collins syndrome have trouble breathing or eating easily. these problems exist because there isn’t enough space along the throat and jaw to create an adequate4 airway. when this happens, a tracheostomy5 may be necessary to create this airway. people with treacher collins syndrome also often receive cleft palate6 surgery around the age of one. later, many patients also require bone grafts7 to correct for missing cheek or orbital bones.8 shortly after, patients often require ear reconstruction or an external9 device to make it easier to hear clearly. other surgeries are also often required to correct eyelids, noses, or the soft tissue on the face.

most cases of treacher collins syndrome are caused because of mutations10 in the tcof1 gene. this specific gene creates proteins, which play an important role in the early development of bones and other tissues in the face. when there is a mutation in the tcof1 gene, it negatively impacts the production of ribosomal rna (rrna).11 this decrease in rrna results in the destruction of certain cells that are involved in facial bones and tissues.

sometimes people with treacher collins syndrome face other consequences of their condition—social ones. amie, a physician who has treacher collins, writes on treachercollins. org, “treacher collins syndrome is a lot more than a pile of statistics and facts. it is about the person below the surface. people tend to give wide berth to the things and people that they perceive as a threat to them – those people who are ‘different’ or who they don’t understand. in some situations, this defense mechanism can be good. in excess, however, it breeds ignorance12 and heartache and leads society to shun13 those that aren’t ‘normal.’ thus, society does not take the time to see what lies beneath the outer shell of a person and never sees that below the surface these ‘different’ people are just as ‘normal’ as anyone else.”

[5]jono lancaster, another person with treacher collins, was abandoned by his birth parents when they saw his face. according to an article from the bbc, jono struggled with depression and was bullied in high school, but today he loves his face. people with treacher collins syndrome may not look “normal” and they may even face uncommon difficulties with speech or eating, but they can still live fulfilling and complex lives just like anyone else. amie writes, “given the chance to live my life over again without treacher collins, i would have to politely decline.”14 jono says, “i’m proud of who i am. and treacher collins made me who i am today.”

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Which statement best describes the relationship between paragraph 5 and the text overall?

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