Jenn Drohan remembers being so thrilled when her son Max developed normally: He smiled, sat up, and crawled. Then he walked. He babbled. Then he talked. Jenn and her husband, John, had an older son, Sam, who showed signs of having autism. The couple hoped that maybe Max would avoid the hallmark problems of people on the autism “spectrum”: difficulty interacting socially, difficulty communicating, and repetitive behaviors. As a toddler, Max was sunny and social.
At 17 months old, Max began to change. He stopped making eye contact with people. He seemed to lose interest in the world around him. He started talking less. Then, he stopped talking altogether. He became increasingly anxious. His behavior became more unpredictable and disruptive. After their older son, Sam, was officially diagnosed with autism, the couple, who lives just north of Boston, had Max evaluated for the disorder. Just like Sam, Max received a diagnosis of autism.
Seven years ago, not long after Max’s diagnosis, the family got the chance to have their genomes, their complete set of genes, analyzed by a team at the Children’s Hospital of Boston. The Boston Autism Consortium conducted a study, which also used data from a database called the Autism Genetic Research Exchange (AGRE), and compared “phenotypes” — the observed individual characteristics of Jenn, her husband, and her sons — with “genotypes,” their full genetic sequence.
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