Isla (6) suffers from Benjamin Button Syndrome and is aging in record time

Six-year-old Isla Kilpatrick-Screaton from Leicester in Great Britain is unique in every respect: The girl suffers from a special form of mandibuloacral dysplasia, a hereditary disease that occurs extremely rarely and is associated with malformations and anomalies of the skeleton, among other things.

Isla’s case is special, however, because according to her doctors, she is the only person in the world with this particular gene mutation.

The disease causes the girl to age extremely quickly, which is why it is colloquially referred to as Benjamin Button Syndrome, based on the short story by F. Scott Fitzgerald from 1922 and its film adaptation with Brad Pitt from 2008. However, the six-year-old does not age backwards, as in the story of Benjamin Button – but in record time.

“She’s so confident”

Rapid cell aging and skin pigmentation disorders ensure that Isla looks much older than she actually is. She also suffers from early hearing loss and is restricted in her mobility due to bone deformities, which is why she is now dependent on a wheelchair. In addition, there are heart problems, narrowed airways and difficulties in eating, which is why the little one has already undergone numerous surgeries and hospital stays.

Despite all the limitations, Isla is a happy child and now even goes to school.

Her mother, Stacey, had been very concerned about how the other children would react to Isla before her daughter started school. But the fear of possible teasing was apparently unfounded. The 37 year old
told the mirror
:

“She’s so confident. The children run towards her instead of holding back. I am so proud and happy that Isla has settled in well at school. All children want to be their friends.”

Nobody knows what will happen next

Stacey Kilpatrick is very open about her daughter’s illness and shares photos and videos of Isla and her big sister Paige on various social media platforms. The sisters seem to have a particularly strong connection.

“Isla can walk, but she gets unsteady on her feet and gets tired easily,” says her mother. “I have to wear them a lot. Her sister Paige is now ten years old and she helps me a lot without ever complaining – I don’t know what I would do without her.”

Due to the unique nature of her condition, no one can predict how Isla’s health will develop over the next few years. Doctors don’t know if their mobility will decrease further over time, or if the disease will be life-limiting. However, it can be assumed that Isla has an increased risk of heart attack. In addition, there remains uncertainty as to how the rapid aging of the organs and the numerous problems affecting the bones and muscles will affect their condition.

Her mother describes the difficult situation:

“No one can tell us how things will continue. Nobody else has this gene mutation that causes these deficiencies. There are only seven cases of mandibuloacral dysplasia that have ever been reported in the medical literature—none of the cases had this particular mutation.”