CASTINE—When a doctor says the words “genetic disorder” and “lifelong diagnosis” about a child, it can cause even the strongest of people and families to lose hope for a normal life.
Tough as it has been, 14-year-old Kelsey Carter never backed down from the fight. The Blue Hill resident and George Stevens Academy freshman has lived with an unnamed, rare genetic disorder that has caused physical, mental and emotional issues, and multiple medical conditions. She and her parents, Jackie and Paul, and her sisters, have traveled around the country for testing, visits with various doctors, and consultations, all without answers. Carter was finally diagnosed four years ago, with a genetic defect called 7q 11.23 duplication syndrome.
“This means that on her seventh chromosome, the lower portion, she has a section of extra DNA pieces,” said Jackie.
“Instead of one set from mom and one set from dad, she has a whole extra set in that region called the Williams-Beuren critical region.”
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