Juliana Wetmore

Juliana Wetmore is a cheerful little girl with beautiful hair and a brilliant ability to learn despite her challenges. Born in March of 2003, Juliana Wetmore is one of the worst known cases of a disorder known as Franceschetti-Zwahlen-Klein syndrome, or Treacher Collins Syndrome. This rare genetic disorder is found in 1 in 10,000 births and is characterized by cranial deformities resulting from the absence of bone in the face and other lacking or absent features such as the cartilage in the ears or nose.

The syndrome in inherited in an autosomal-dominant pattern though a mutation in the TCOF1 gene at chromosome 5-q32-q33.1. This has been hypotheisized to disrupt the sorting of proteins during different stages in the embryonic delevelopment - especially at the time of head and face development.

Although the symptoms range from almost unnoticeable to severely deformed, Juliana’s case is the worst recorded, with 30-40% of her facial bones absent. Characteristic of infant’s with this disorder, deformed facial bones caused restriction of her airway and have caused her many respiratory problems. She cannot talk, but uses sign language to communicate. For a four-year-old she’s smart - she can sign the entire alphabet.

Juliana’s story has been featured on such televison networks as “The Learning Channel”- bringing attention to the disorder and providing aid for her family. She has had 21 surgeries so far, the first occuring five days into her life. Often her family has heard that she may not survive, yet she has persevered through the trauma and strain she has been subjected to.

At this point, no kind of cosmetic surgery is being attempted. The Wetmores’ goal is to simply get her to the point where she can eat without and tube and breathe without a trachea.