Hear more stories behind the breakthrough
Cracking Charlotte’s medical mystery through genomic sequencing
The research that finally gave her family answers.
For Charlotte’s family, finally learning what was behind her medical mystery brought relief after years of uncertainty. That same breakthrough is now giving other families the chance to get answers sooner.
Charlotte’s medical mystery stumped doctors for years. She was living with cerebral palsy, seizures, a heart defect and developmental delays but none of it explained the whole picture. Her family faced appointment after appointment with no real answers, only more questions. Then, researchers at The Kids used advanced genetic testing to finally crack the mystery, pinpointing the rare variant behind Charlotte’s condition. In the process, they reduced the diagnosis time from five years to 12 months, and it’s now giving other families the chance to find answers much sooner.
Charlotte is one of around 10 people in the world with the same genetic variant, a discovery that has brought her family the clarity they had been searching for.
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