Friday, April 9, 2010

Bizarre facts-Girl without a face

Girl Without A Face

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.


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bizarre-factsTreacher Collins Syndrome is a genetic mutation that prevents the proper formation of the skull, cheek and jaw bones.

Julianna's case was so severe she required immediate plastic surgery to uncover her left eye and to open up an airway so that she could breathe.

Dr. Teng a neonatal physician at Shands Jacksonville Medical Centre described Julianna as the worst case he has experienced in his life. Nancy DeBiase a nurse on the ward with Julianna requested a cat scan to check if there was a fully-formed brain inside this mis-shapen skull and was delighted and amazed to discover that there was.

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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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By the time Julianna was two years old she has had two major operations and many other surgeries. Her mother Tami and father Thom Wetmore, a flight engineer with the US Navy, have been at her side almost constantly. Fortunately the US Navy benefits
scheme has picked up the tab, so far, for Julianna's treatment. An estimated $3,000,000.

As she grows there is an ever present danger that holes will open up in her skull. A fact that has already required bone grafts, including one where a section of one of her ribs was removed, split and used to graft into a hole in her skull and to aid rebuilding of her nose.

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Julianna will need continuous surgery for many years to complete the rebuilding of her face.

The documentary team have revisited Julianna recently, Julianna is Three, see how she has progressed.

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