Two-year-old Isla Kilpatrick-Screaton from Leicester is unlike any other child in the world, owing to her extremely rare genetic disorder known as mandibuloacral dysplasia. This condition, sometimes referred to as “Benjamin Button disease” due to its rapid aging effect on cells, began affecting Isla before she was even born.
Her parents, Stacey Kilpatrick, 33, and Kyle Screaton, 36, were left bewildered when they received the diagnosis for their daughter’s ailment. They were told that her condition is so unique that the particular gene mutation responsible for her disorder had never been seen before. Medical experts advised them to start researching Isla’s condition because there was limited knowledge available about it.
Isla’s journey has been marked by numerous challenges. At two years old, she weighs only 15 pounds and struggles to communicate verbally, relying mainly on Makaton sign language. Her bones are distorted by the disorder, making daily tasks more challenging.
One of the most significant obstacles in her path is a heart condition and narrow airways that affect her breathing. Her health condition has caused her parents to become her full-time caregivers.
Her father humorously calls her “grandma” due to her unique appearance, which, like the disease’s namesake, makes her look far older than her actual age. While Isla’s appearance might seem unusual, she is a happy child who enjoys playing with her seven-year-old sister, Paige.
Isla’s genetic condition, mandibuloacral dysplasia, has left her with a narrow jaw and collarbone, underdeveloped skin, and a lack of body fat, in addition to her unique appearance. The disorder also affects her airways, with her tongue sometimes blocking her breathing passage.
Isolation is currently the only patient in the world with this exact gene mutation. Her future remains uncertain due to the rapid cell aging that the disease may cause, which could make her look even older as she grows.
Isla has faced numerous health complications since birth, including issues with breathing and her airway being blocked by her tongue. She requires a feeding tube for high-calorie milk. Her parents have been informed that she could suffer from rapid cell aging, which may cause her to age prematurely.
Despite the many obstacles she has faced, Isla’s parents are hopeful and continue to provide her with unwavering support and care. Her extraordinary journey serves as a reminder of the resilience and strength that can be found in the face of adversity.
The Kilpatrick-Screaton family’s experience with Isla has led them to raise awareness about this rare genetic condition, hoping to help other children who may have similar diagnoses in the future. They are determined to provide the best life possible for Isla and ensure her story is an inspiration for others facing unique challenges.
