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Treacher Collins Syndrome: Finding Wonder in Adversity

HIGHLIGHTS:

  • Treacher Collins Syndrome is a rare genetic disease that causes deformities of the ears, eyes, cheek bones and chin. This disease occurs in about 1 in 50,000 people.
  • At present, there is no cure for this disease. Most treatments focus on relieving symptoms of the condition using facial surgery, hearing aids, speech therapy, and other assistive devices depending on the specific needs of each affected person.
  • In autosomal dominant cases, a person inherits the altered gene from one or the other parent who is affected with the syndrome, whereby there is a 50% chance for each pregnancy that the child will also have Treacher Collins syndrome.

Treacher Collins Syndrome

Anyone who has recently had the chance to watch the heart-warming, feel-good movie called “Wonder” will be familiar with our topic for today.

The movie follows the story of a child named Auggie who was born with a disease known as Treacher Collins Syndrome, which causes facial abnormalities. Because of this, Auggie must undergo numerous surgeries, while at the same time trying from a young age to learn how to adjust to a society around him which views and labels him as “different”. Despite this, Auggie is one lucky kid, however, as he has a family that stands by him, encourages him, and helps him to overcome the challenges of the cruelty and unkindness he faces from others around him.

Treacher Collins Syndrome is a rare genetic disease that causes deformities of the ears, eyes, cheek bones and chin. The degree to which a person is affected, however, may vary from mild to severe. Complications may include breathing problems, problems seeing, a cleft palate, and hearing loss, but most patients generally have normal intelligence and life expectancy. This disease occurs in about 1 in 50,000 people. The syndrome is named after an English man who was both a surgeon and ophthalmologist named Edward Treacher Collins. He described the essential traits of the condition for the first time in 1900.

Treacher Collins Syndrome has both autosomal dominant and autosomal recessive patterns of inheritance. In autosomal dominant cases, a person inherits the altered gene from one or the other parent who is affected with the syndrome, whereby there is a 50% chance for each pregnancy that the child will also have Treacher Collins Syndrome. With this type of inheritance pattern, there will be many patients in one family with the disorder going back many generations. At the same time, however, about 60 percent of these cases result from new mutations in the gene and occur in people with no history of the disorder in their family or in either parent. Even rarer than autosomal dominant cases are those with autosomal recessive inheritance patterns. In these cases, the parents of the affected individual each carry a copy of the mutated gene, but they typically do not show any signs or symptoms of the condition. While they appear to be unaffected, when two people with the latent mutated gene marry and become parents, their child will then be born with the condition.

At present, there is no cure for this disease. Most treatments focus on relieving symptoms of the condition using facial surgery, hearing aids, speech therapy, and other assistive devices depending on the specific needs of each affected person.

Once a couple has given birth to their first affected child, gene-level investigation and testing is important to determine whether the gene is autosomal dominant, autosomal recessive, or a mutation, as this will affect their plans for having children in the future so as to avoid any recurrence of the condition in their family. At present, genetic code transcription technology for diagnosis of diseases is much easier and more readily available than was previously the case. Additionally, new parents who want access to more detailed planning of their future with regard to having children can also consult a specialist in pediatric genetics in order to screen for recessive genes latent within them. This is to prevent children being born with abnormalities without the parents’ advance knowledge and thus avoid unnecessary suffering during their lives on this earth.

I offer my heartfelt encouragement to many families that, although there are some things we cannot change or reverse, we can turn our suffering into a driving force that moves us forward. We all experience both joy and suffering intertwined throughout our lives, whether we have abnormalities or not, as there is no one who experiences only joy all the time. Let us always remember that who we are is dependent upon our own actions. If we do good, then instead of being defined by our abnormalities, we can be defined as people who are different and stand out in a positive, remarkable way, just like wonderful Auggie.


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