A couple has trouble finding a treatment for their 13-year-old daughter’s undiagnosed illness. Sequencing her genome provided a promising path to an answer:
“The family has a mantra: It’s a marathon not a sprint. They were battle-hardened from a long road of possible fixes and disappointments. ‘We thought: This is great but it’s probably just going to be another data point that we add to the binder,’ says Steve. ‘Lilly’s already had a lot of bad news in her life,’ says Gay. ‘Her biggest fear was that we wouldn’t find anything. Not knowing would be the worst thing.’”