Saturday, April 9, 2011

A Girl Born Without a Face : Treacher Collins Syndrome



Julianna Wetmore was born with a rare genetic craniofacial disorder known as Treacher Collins Syndrome. This condition normally appears as elongated or sagging eyes and small or missing ears and generally affects 1 in 10,000. Not only is this a rare occurrence but, Julianna has perhaps the most severe case ever seen. The condition was first seen during pre-natal scans where doctors thought that she had a cleft palate. However, the full extent of her disfigurement was not seen until she was born.





Dr S. Anthony Wolfe, Chief of plastic and reconstructive surgery explained that Julianna's case was due to the presence of the Treacher Collins gene plus another aberrant gene which amplified the effect. These genes affected the embryonic development at an early, probably intra-utero, stage.

As Julianna has no ears she needed to be fitted with a bone conduction hearing aid. She began therapy with Judy Hammer-Knisely a Paediatric Speech and Language Pathologist at the Wolfson Children's Hospital in Miami. As her mouth is not properly formed she cannot speak so the therapy involved teaching her some basic sign language. Also, the malformed mouth prevents her from eating, so Julianna has to be fed through a pipe into her stomach.

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