Archive for personalized medicine
Against all odds: Mila’s unique mutation, and her own custom drug
As a baby and toddler, Mila was healthy, active, and — in some ways — even advanced for her age. She began speaking before she turned 1, went skiing for the first time at age 2, and was a fearless climber on furniture and rock walls. However, after she turned 3, Mila developed a strange ... Read More
Shooting for the moon: From diagnosis to custom drug, in one year
One weekend in January 2017, Timothy Yu, MD, PhD, was relaxing at home when his wife said, “Hey Tim, will you look at this post on Facebook? This might be something you’d be interested in.” Doctors had just diagnosed a young girl named Mila in Colorado with Batten disease, a rare and fatal neurodegenerative disorder. ... Read More
Solving medical mysteries: The Undiagnosed Disease Network
At first, Corrie and Adam Mendes thought their daughter Emmie had an inner ear problem. She was late with several early milestones, including walking, and when she did walk, she often lost her balance. The family pediatrician sent them to a neurologist, who ordered a brain MRI and diagnosed her with pachygyria, a rare condition ... Read More