A ONE-OF-A-KIND JOURNEY: THE EXTRAORDINARY LIFE OF ISLA KILPATRICK-SCREATON

When Isla Kilpatrick-Screaton was diagnosed, doctors told her parents something they had never expected to hear. They had discovered a genetic variant they had never seen before.

Isla was born in England in February 2017, several weeks premature. Almost immediately, doctors realized something was wrong. She struggled to maintain her oxygen levels and spent her first five days in an induced coma.

The challenges continued after she went home. Isla experienced frightening episodes where her airway became blocked, sometimes turning blue and requiring emergency treatment. After months of testing, doctors diagnosed her with mandibuloacral dysplasia, an extremely rare genetic disorder affecting bone development, skin, and fat distribution.

Her case was uniquely distinct. Doctors explained that her specific genetic mutation was unprecedented, meaning she did not fit into either of the two recognized forms of the condition. With no other child sharing her exact diagnosis, there was no roadmap for her future. Her parents were told to take life one day at a time.

Mandibuloacral dysplasia causes features linked to premature aging, earning it the nickname “Benjamin Button disease.” The disorder has impacted Isla’s breathing, growth, and development, requiring specialist care and communication support.

Despite these hurdles, Isla has shown remarkable determination. Expressive and clever, she learned sign language and celebrated major milestones, including starting school and making friends. Today, at 9 years old, Isla continues to thrive as her family raises awareness while making sure she simply gets to be a child.