Isla Kilpatrick-Screaton is a 2-year old girl from Leicestor, England, who has the Benjamin Button disease. This is a mandibuloacral dysplasia that causes Isla’s cells to age extremely fast.
The disease is said to be so rare that she’s thought to be the only person in the world who’s affected by it. The National Organization for Rare Disorders says that only 40 cases of Benjamin Button have ever been reported.
Isla’s DNA test reveals that she carries a very specific mutation that has never been found in another sufferer. Because of this, and her heart disorder along with breathing difficulties, Isla’s future is uncertain.
Stacey Kilpatrick-Screaton, Isla’s mother, had a normal pregnancy until her early labor at 36 weeks. And although the delivery was quite dramatic and a difficult time followed after the delivery too, Isla was deemed well enough to go home after about a month.
But it was only six days before the parents had to call an ambulance again. Isla had started to turn blue, while choking and spluttering, when her mother was bottle-feeding her.
The journey had been similar ever since and after several tests and hospital visits, Isla was diagnosed with mandibuloacral dysplasis in October 2017. Because of the rarity of the condition, there isn’t a lot of medical support available. But, the parents have been told that Isla’s condition isn’t life-limiting.
Isla is now 2-years old and weight only 15 lbs. She has recently started crawling and although she can barely speak, Isla communicates vastly through sign language.
This condition has affected the toddler’s health in a lot of different ways too. Narrow airways, thin skin and small jaw with tongue much behind in her throat to name a few.
Isla’s parents depend on Rainbow’s Childrens’ hospice in Lougnborough to give Isla the chance to play like any other kid. And while the family can only take one day at a time with their daughter’s rare disease, they really want to raise awareness about Benjamin Button to help Isla and other kids who might have the disease in future.