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Someone Who Knows What You're Going Through

A few years ago, Lilly Grossman took part in the Idiopathic Diseases of Man, or IDIOM, study led by Sarah and Eric Topol. Through the study, researchers found that her genome harbored two variants, in ADCY5 and in DOCK3, that seemed to be behind her painful muscle twitches. Not only has sequencing pointed to a treatment approach, it's also led to the development of a community of people affected by ADCY5 mutations, Ed Yong now writes at The Atlantic.

"Lilly's case has acted as a magnet for others with the same mutation," he says. "Families with the same problem read about Lilly's case and contacted the Grossmans. Doctors and geneticists looked at their own patients and saw a new explanation behind puzzling symptoms." Similar situations, he notes, are occurring in other rare diseases.

The Grossmans, Yong says, have been in touch with other affected families the world over, and put on a get-together for patients and researchers during an international conference on movement disorders. Lilly and her parents also Skype with other families, reassuring them.

"The best feeling is seeing these tiny little kids and thinking: They're not going to have to go through all this," says Gay Grossman, Lilly's mom. "These mothers and fathers are young, and they have 2-year-olds. We're 16 years ahead. They're not going to have to go through nerve biopsies and muscle biopsies and MRIs and all these things we put Lilly through."