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About Treacher Collins Syndrome

by CommonLit Staff

2016

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This informational text gives a brief overview of the causes and effects of Treacher Collins syndrome, the same condition that Auggie, the protagonist of Wonder by R.J. Palacio, has.

 As you read this text, try to imagine the different ways Treacher Collins might impact a life or shape someone’s identity, and identify 2-3 main ideas of the article.
"Wonder by R.J. Palacio" by cuprikorn is licensed under CC BY-NC-ND 2.0.

Treacher Collins syndrome, named for Edward Treacher Collins who first described its symptoms, is a rare congenital[1] disorder that impacts facial features. People with Treacher Collins often have missing cheekbones, downward slanting eyes, hearing loss, atypical[2] 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 cognitive[3] 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 adequate[4] airway. When this happens, a tracheostomy[5] may be necessary to create this airway. People with Treacher Collins syndrome also often receive cleft palate[6] surgery around the age of one. Later, many patients also require bone grafts[7] to help correct for missing cheek or orbital bones.[8] Shortly after, patients often require ear reconstruction or an external[9] 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.Q1 

Most cases of Treacher Collins syndrome are caused because of mutations[10] 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 ignorance[12] and heartache and leads society to shun[13] 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.”

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.”Q2

© 2016. About Treacher Collins Syndrome by CommonLit is a derivative of Wikipedia, licensed under CC BY-NC-SA 2.0.

Notes

  1. "Congenital" describes a disorder or condition that exists since, or even before, birth.

  2. Atypical (adjective):

    not typical; different from what is most common

  3. mental abilities such as learning, knowing, or understanding things

  4. Adequate (adjective): good enough
  5. A tracheostomy is a surgery that helps people breathe by opening the windpipe and sometimes also inserting a special tube in the neck.

  6. A cleft palate is when the roof of the mouth has a hole that connects it to the nose. It can cause problems speaking, eating, or even hearing. 

  7. Bone grafts are medical procedures that transplant new bone tissue to help repair bones that are missing or broken.

  8. Orbital bones are the bones around the eyes.

  9. External (adjective):

    on the outside

  10. A mutation is when a living thing develops different characteristics as the result of a change in their genes.

  11. RNA is a thing in your cells that helps read your DNA to make proteins, which eventually make you look the way your DNA says you should — unless there is an unusual complication or mutation, like with Treacher Collins syndrome. 

  12. Ignorance (noun):

    not having knowledge or understanding about something

  13. Shun (verb):

    to avoid something (or someone) out of fear or dislike

  14. Decline (verb):

    to say no, usually to an offer, recommendation, or invitation

  1. "Congenital" describes a disorder or condition that exists since, or even before, birth.

    x
  2. Atypical (adjective):

    not typical; different from what is most common

    x
  3. mental abilities such as learning, knowing, or understanding things

    x
  4. Adequate (adjective): good enough x
  5. A tracheostomy is a surgery that helps people breathe by opening the windpipe and sometimes also inserting a special tube in the neck.

    x
  6. A cleft palate is when the roof of the mouth has a hole that connects it to the nose. It can cause problems speaking, eating, or even hearing. 

    x
  7. Bone grafts are medical procedures that transplant new bone tissue to help repair bones that are missing or broken.

    x
  8. Orbital bones are the bones around the eyes.

    x
  9. External (adjective):

    on the outside

    x
  10. A mutation is when a living thing develops different characteristics as the result of a change in their genes.

    x
  11. RNA is a thing in your cells that helps read your DNA to make proteins, which eventually make you look the way your DNA says you should — unless there is an unusual complication or mutation, like with Treacher Collins syndrome. 

    x
  12. Ignorance (noun):

    not having knowledge or understanding about something

    x
  13. Shun (verb):

    to avoid something (or someone) out of fear or dislike

    x
  14. Decline (verb):

    to say no, usually to an offer, recommendation, or invitation

    x

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