Juliana Wetmore's Treacher-Collins Syndrome

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David Holt

The Juliana Wetmore's Treacher-Collins syndrome refers to the condition with which this American girl was born: she has 40% of the bones in her face missing.

Treacher-Collins syndrome is a genetic disorder characterized by the deformation and lack of tissues in the chin, eyes, ears and cheekbones, and which results in difficulties in the respiratory, auditory and digestive systems.

One of the best known cases of patients with Treacher-Collins syndrome, and the most severe on record, is that of Juliana Wetmore.

Juliana was born in 2003 in Jacksonville, United States. So far, he has had more than forty-five operations, both to improve his hearing and for facial reconstruction..

Causes and symptoms

The cause of Treacher-Collins syndrome is a mutation of the gene on chromosome 5, and it can be caused by hereditary transmission or spontaneously. Statistics show that this disease affects one in every 50,000 births. 

In the case of Juliana Wetmore, the first months of pregnancy were normal, until the first ultrasounds showed some abnormalities.

The doctors monitoring Tami Wetmore's pregnancy ordered an amniocentesis; that is, a prenatal study.

The results showed that the fetus suffered from a cleft palate, but only at the time of birth did parents and doctors realize the seriousness of the baby's situation.

First reactions to the Juliana Wetmore case

From the first moment that the doctors warned Juliana Wetmore's parents about the abnormalities in the baby, they decided to continue with the pregnancy..

Although the parents were initially shocked upon meeting their baby, they overcame and began a long recovery process, which has so far included forty-five interventions.

Recovery process

At the time of birth Juliana Wetmore did not have the orbital cavities, she was missing the bones of the cheeks, she suffered malformations in the nostrils and also she was missing the external auditory canal and the ears.

Immediately the medical team at Miami Children's Hospital began operations, through which they discovered his left eye and inserted a tube into his windpipe and stomach, to facilitate breathing and feeding..

It is hoped that in the near future the tube inserted into your stomach may be removed so that you can feed yourself..

She currently attends the Clay County school for deaf children, as she communicates through sign language. His development at an intellectual level is completely normal, and he even attends classical and tap dance lessons..

New ally in the recovery process

In 2015 Thom and Tami Wetmore, Julianne's parents, decided to adopt a Ukrainian girl named Danica, who also suffered from Treacher-Collins syndrome, although with milder symptoms than Julianne's..

Currently, both sisters are a case of solidarity and cooperation in the face of difficulties.

References

  1. Meredith Engel, New York Daily New, ”Juliana Wetmore triumphs after being born with no face”, 2014. Retrieved on December 11, 2017 from nydailynews.com
  2. Lizzetti Borrelli, "Girl Born witout a face redefines beauty: Juliana Wetmore, Treacher Collins sufferer, can finally talk after 45 surgeries", 2014. Retrieved on December 11, 2017 from medicaldaily.com
  3. Henderson Cooper, "The baby girl was born witout a face, 11 years later everything has changed", 2016. Retrieved on December 11, 2017 from i-lh.com

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