Audrey's Blog

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Treacher Collins Syndrome

January10

My last and final task I chose to do is to write a research project. The syndrome I’m writing about is Treacher Collins Syndrome. It’s the syndrome that August in the book “Wonder” by R.J. Palacio has.

The main character in the novel “Wonder” by: R.J Palacio suffers from a condition called Treacher Collins Syndrome (TCS). Like most people with this condition, Auggie is normal in every way except in his face and head.

 

Treacher Collins is a genetic disorder made up of deformities of the ears, eyes, chin and cheekbones. It is also known as Mandibulofacial Dysostosis. Some cases are mild, others are severe. It was discovered by Edward Treacher Collins in 1900 in England. He was an ophthalmologist. (https://en.wikipedia.org/wiki/Treacher_Collins_syndrome)

 

Treacher Collins Syndrome is a genetic disease. It is autosomal dominant, but only 40% of cases are inherited from parent to child. The other 60% are totally random new mutations (like Auggie). TCS happens when a gene (usually TCOF1), which is found on chromosome 5 in the 5q32 region. has some sort of mistake when being made. This gene provides instructions for making a protein called treacle. Treacle is an important protein in the development of the bones and tissues of the face. (www.ghr.nlm.nih.gov.) This condition affects approximately 1 in 50,000 people. 

 

The signs (objective, visible) of TCS are all in the face area. One main sign is underdeveloped cheekbones and floor of the eye socket. A very small lower jaw/chin can lead to breathing problems. Another noticeable feature is the unusual shape of the ears, which are also small and misplaced. This may result in hearing loss. The next sign is down-slanted eyes and this may result in vision loss. People with this syndrome can also have cleft palate. (www.faces.cranio.org)

 

Some of the symptoms (subjective, non-visible) of the TCS are anxiety and depression. Children may also suffer from social phobia (when they are scared of what people will think of their face) so they try to avoid being around other people. (www.ncbi.nlm.nih.gov

 

Treacher Collins Syndrome is not curable. There are some treatments that can improve the life of people with TCS. One of the treatments is plastic surgery to make face structures more normal. Usually this happens once the cheek and eye socket bones are developed, around 5-7 years old. Other surgeries can correct cleft palate, but are usually done on babies (9 to 12 months old). Jaw problems are corrected later, usually done on late teenagers (16 years old). The last kinds of surgeries can improve hearing and vision problems. Other kinds of treatments help children live with this syndrome. There is speech therapy and hearing aids if needed for a specific kid. They may also need psychologists or social workers to help with the feelings their having. (www.kidskonnect.com/science/treacher-collins-syndrome

 

Auggie from Wonder is perfectly normal besides the signs and symptoms of Treacher Collins Syndrome. He had 27 surgeries in his life and he has hearing aids. On the good side he was really smart and has a kind and funny personality. Unfortunately he has to suffer from the mean words and actions others give him. That’s why he is a perfect example of a person living with treacher Collins Syndrome.

Here are some pictures of people with treacher Collins Syndrome.

This is a picture of a child with Treacher Collins Syndrome. I found this picture here.

This is a picture of August in the movie. I found this picture here

Thank you for reading my post. Hope you learned something. I can’t wait to read your blogs and comment on them.

Do you know anything more about Treacher Collins Syndrome? Do you know any other syndromes like this one?

by posted under English, Grade 5, Language arts | 3 Comments »    
3 Comments to

“Treacher Collins Syndrome”

  1. January 21st, 2020 at 12:37 pm      Reply Jon Mitzmacher Says:

    This is a really great post Audrey! I was really struck by “Wonder” as well and back in 2014, I learned about a Jewish child who has Treacher Collins Syndrome who was speaking about his experiences at Jewish day schools. I wrote about in my blog – http://jonmitzmacher.com/2014/09/studying-with-auggie – and here is an excerpt:

    “Gabriel Hafter is a 12 year old from Las Vegas, Nevada. He has Treacher Collins Syndrome. Gabriel has been appointed a WonderKid, by the national Children’s Craniofacial Association. Gabriel speaks to schools around the country, via Skype or in person, about being different, the book, Wonder, by R.J.Palacio, and his anti-bullying campaign to Choose Kind, inspired by the book.”

    I don’t know what he is up to these days, but at the time his mother told me that, “If you would like Gabriel to present his 7 Wonder’s of Choosing Kind campaign to your school, please contact Jackie Hafter via phone at 702-845-3731 or email at jackie@thehafters.com.”

    If you or your classmates are interested, I encourage you to reach out. If you are more comfortable, I would be happy to make an introduction.

    Keep up the great work!

    Doc


  2. January 22nd, 2020 at 2:51 pm      Reply audrey2 Says:

    Thank you very much.
    I will tell my class about this.
    Thanks again,

    Audrey


  3. January 23rd, 2020 at 6:57 pm      Reply Shari Borsuk Says:

    Hi! I just read your post for the first time today! I am so happy with how much time you spent learning about Treacher-Collins…. I also learned something from your post. Next time you see Uncle Daniel, you should ask him if he helps people like Auggie. Great job!


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