There is only one like this in the world: Isla (6) is aging in record time due to a rare disease

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Isla Kilpatrick-Screaton looks way too old for her small frame and young age. The six-year-old girl from Leicester, UK, suffers from a special form of mandibuloacral dysplasia. This extremely rare hereditary disease is associated with malformations and skeletal abnormalities, among other things.

Isla’s mother tells Britain’s ‘Mirror’: “When we were diagnosed, the genetic counselor said Isla was the only one in the world with this particular writing error in the gene that causes the mutation.” People often talk about Benjamin Button Syndrome: based on the short story by F. Scott Fitzgerald from 1922. Unlike in the short story, Isla does not age backwards, but in record time.

“I’m so proud and happy”

The girl has undergone multiple surgeries due to heart problems, a narrowed airway and difficulty eating. Added to this is an early hearing loss and bone deformities that bind her to a wheelchair. Due to accelerated cell aging and a pigment disorder in the skin, Isla looks much older than she is.

Still, the six-year-old is unbeatable: “She has so much confidence. Despite her appearance, the children run to her instead of running away from her. I am so proud and happy that Isla is having such a good time at school,” her mother, Stacey Kilpatrick, proudly shared on social media about her daughter.

Increased risk of heart attack

But Isla’s future is uncertain. “No one can tell us how to proceed. Only seven cases of mandibuloacral dysplasia have been described in the medical literature – and none of them have this specific mutation,” the mother describes the difficult situation.

The doctors assume that Isla has an increased risk of a heart attack. How the rapid aging of the organs and the numerous problems with bones and muscles affect their condition is unclear. And no one knows how long Isla has to live. (gs)

Source: Blick