Benjamin Button Syndrome: Six-year-olds age quickly due to genetic defects

Watch the video: Benjamin Button Syndrome – Six-year-old Isla is aging extremely quickly.

Even if you don’t look at her at first glance, Isla Kilpatrick-Screaton from Great Britain is only six years old.
This is due to a rare hereditary disease.
Mother Stacey gives birth to her daughter on February 2nd, 2017 at 36 weeks gestation.
After a month, the proud parents can take their daughter home with them.
Shortly thereafter, Isla is taken to the hospital again because she is turning blue and unable to breathe.
Doctors notice that with any kind of stress, the little child’s tongue swells up and blocks the airway.
Several emergency surgeries followed. At only 3 months old, she even needs to be resuscitated.
Six months after the birth, the family finally got the diagnosis: mandibuloacral dysplasia.
The disease is a rare form of progeria, a genetic disease that causes those affected to age in fast motion. Colloquially, the term “Benjamin Button Syndrome” is often used.
Those affected have wrinkled skin even as children, suffer from hair loss, hearing loss and calcified arteries.
The average life expectancy for people with progeria is 13-20 years.
Only a few cases of this disease are known in the medical literature. The syndrome is so rare that Isla is currently the only person suffering from it.
Their mobility and hearing have already deteriorated over their short lifetimes.
Despite the illness, Isla’s family tries to live a normal life. The six-year-old recently started school.
Isla’s mother feared that her daughter would not be able to connect at school. But the opposite is the case. Isla has already made many friends.

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