Chloe was diagnosed with leukodystrophy as a baby, but her symptoms didn’t conform with the known types of the disease. It wasn’t until she was 6 years old that Adeline Vanderver, MD, a neurologist at Children’s Hospital of Philadelphia, identified the cause of her condition — a rare genetic mutation. That knowledge has helped her doctors apply more effective treatments and has given Chloe’s parents something solid to hold onto as they face an uncertain future.
Chloe was born, she appeared to be a healthy baby. The only concern was a failed hearing screening, but doctors told her parents, Sara and Justin, not to worry. Newborns can fail the test because of fluid in their ears.
Sara and Justin brought Chloe back a week later to repeat the test, which she failed again. By this time, her parents had another concern: Chloe’s eyes were constantly moving back and forth and up and down. Again, they were told not to worry, and that it was just a phase.
While Chloe’s eyes continued to dart around, she seemed to be progressing normally in other ways, like learning to roll over. But by the time Chloe was almost 4 months old, the couple noticed another problem: their daughter wasn’t developing good head control.