According to a story from Kent Online, like many other four year olds around the world, Olivia Wilkes will start attending school this year. However, her situation is different from most other children because she was born with Kabuki syndrome, a rare genetic disorder. Olivia will be attending the Cherry Orchard Academy in Ebbsfleet. Here she will take both standard and special needs classes.
About Kabuki Syndrome
Kabuki syndrome is a rare genetic disorder that can have varied impacts throughout the body and causes distinctive facial features. The name is derived from a perceived resemblance of these facial features to the makeup used in kabuki, a traditional Japanese style of theater. This syndrome is typically not inherited and appears as a random mutation. While the causal mutation cannot be determined in all cases, mutations of the KDM6A and KMT2D genes have been linked to Kabuki syndrome. Symptoms include distinct facial features (long eyebrows, eyelashes, and eyelids, downturned mouth, flattened nose tip, and prominent ears), infections, small sized head, mild to moderate intellectual disability, developmental delays, issues with feeding, poor muscle tone, problems with hearing and vision, skeletal abnormalities, heart defects, and short height. Treatment is focused on managing symptoms and complications as they appear; Kabuki syndrome itself does not shorten lifespan. To learn more about Kabuki syndrome, click here.
Olivia was born with type 1 diabetes and was also born prematurely, so she was not diagnosed with the syndrome immediately. Even though doctors noted her lack of muscle tone and atypical facial appearance, it wasn’t until age three that she was officially diagnosed. Olivia had to undergo surgery for a cleft palate that year as well.
Like many other patients, Olivia has experienced some developmental delays, particularly when it comes to speech. As a result, part of her special needs time at school will include speech therapy. The family has also benefited from a tablet given to them by Kabuki UK, a nonprofit organization that supports families affected by the disorder. This tablet provides exercises that can help Olivia with her speech development.
To learn more about the activities of Kabuki UK, click here.