The first clue Jamie Drigan saw that something was different about her infant daughter was when she noticed something in her eyes.
After undergoing blood work, doctors diagnosed five-month-old Mila with Kabuki Syndrome - a rare, incurable genetic disorder that’s often not detected until months after birth.
People living with the condition have many abnormalities that affect facial features, delay growth, and can cause sporadic seizures, according to the U.S.-based National Organization for Rare Disorders.
Drigan says feeding Mila, who is now almost three years old, has been one of the biggest challenges.
“That’s a really big struggle. Mila pretty much lives off Ensure. Feeding is a tough go with these ones, they tend to have abnormal intestines,” Drigan said.
Drigan’s says her journey has been frustrating, especially when encountering doctors who have never heard of Kabuki.
She also says she has yet to find anyone in Saskatchewan who can relate, that’s why she wants to spread awareness and educate parents about the disorder.
“Some people are mistaken to have a learning disability and if they were tested, potentially it could be Kabuki,” Drigan said.
Although Kabuki syndrome is rare, Drigan says her daughter is not alone. The disorder affects one in 32,000 to 86,000 people.
The family is hoping to visit the Boston Children’s Centre which has a program dedicated to children with Kabuki Syndrome.
Drigan says it would be an opportunity to learn more about the condition.
