In most every way, I am your typical, garden-variety human being. I’m married with two cats. I am a physician. My specialty is Med-Peds (i.e. Internal Medicine and Pediatrics) and Sleep Medicine, and I practice in Houston, Texas. However, many people assume right from the start that I must not be "normal" since I don't look "normal." I have Treacher Collins syndrome.
Treacher Collins syndrome is a genetic, craniofacial birth defect that is characterized by a range of distinctive facial anomalies. The main characteristics of TCS are downward slanting eyes, small lower jaw, and malformed or missing ears. These anomalies can cause hearing, breathing, and eating problems. About one in ten thousand babies are born with it. A person with Treacher Collins syndrome has a 50% chance of passing it onto their children. In my family, my grandfather passed it down to my mother who passed it down to me.
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 and heartache and leads society to shun 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. It is part of my goal as a doctor-in-training to educate people about Treacher Collins syndrome and to prove to them that looks can be very deceiving. I hope to start a new trend in society where society reads the book before discarding it because the cover looks a little odd.
Given the chance to live my life over again without Treacher Collins, I would have to politely decline. I believe that the experiences in my life as a result of Treacher Collins have molded me into the person that I am today. Like anyone else, I've had many ups and downs, and to give up the lessons I’ve learned on the roller-coaster ride of life would be to give up part of myself. Having Treacher Collins syndrome, or any other medical condition, does not make someone “abnormal,” it only makes him human.
