Babies Born Without a Face: A Look into the Rare Disease Treacher Collins Syndrome

People are heavily judged by their appearance. It is hard for people to look at someone and not draw conclusions about them. Imagine now that a person is missing large portions of their face. People are going to look at these people really funny. A person with Treacher Collins syndrome has to deal with severe deformities of the face. These people are in a constant struggle to live a normal fulfilling life while dealing with the judgment of others.

This disease was first described by English surgeon Edward Treacher Collins. It is a rather rare genetic disease as it only occurs in about 1 in every 10,000 births. The symptoms of this disease are an abnormal to almost completely absent external ear, hearing loss, very small jaw, very large mouth, defect in the lower eyelid, scalp hair extends onto cheeks, and cleft palate.

These people have eyes that slant downwards and defects in the middle ear. The people who have this disorder have underdeveloped facial bones that give them an appearance of having no face. The disorder is inherited as an autonomic-dominant trait. The defective gene that is thought to cause this disorder is called treacle. There is a 50% chance of a child having the disorder if one of the parents has it. Most of the people who sufferer from this disorder are of normal intelligence. A lot of these people grow on and live normal functioning adult lives.

There are a few complications that come with having the disorder. These difficulties including feeding problems, speech issues, communication problems, vision difficulties, and obviously the physical deformities. Of all of these the last one might be the most painful. The emotional pain and the ridicule that comes with looking different than everyone else is always painful. These people look like there is something seriously wrong with them. They are often mistaken for having some accompanying mental condition along with the physical appearance. This is far from the truth. Most of the Treacher Collins sufferers are of normal intelligence and can live normal lives. The Treacher Collins sufferers who do live normal lives and wish to have kids have a tough decision to make. Most go through some kind of genetic counseling. There is a good chance that their kids will have to sufferer with the disorder.

These people have numerous surgeries in order to correct auditory, visual, oral, and physical appearance problems. A person with this may have their ears redone in order to have better hearing or they may have their chin worked on so that they look more like everyone else. The absents of an external ear is one of the biggest problems with those who have this disorder. Hearing problems tend to be the biggest problem and special hearing aids have to be worn. Because they lack an ear to put a normal hearing aid in an earpiece is worn on a headband. Another instrument that is used for Treacher Collins sufferers is a tracheotomy.

It is used at night when a person is sleeping to better help them breathe. Infants may have surgery so they can be properly fed. Infants may have excessive amounts of mucus and have trouble swallowing and sucking. Infants who do make it out alive with this disorder rarely have any medical difficulties. Most of the work that has to be done in the lifetime of a Treacher Collins sufferer has to do with the cosmetic surgery.

It is possible for those with Treacher Collins to live productive, happy lives. They just have to battle through ridicule and the lack of knowledge about this rare disease.