Could Cancer Drugs Treat Autism?

Five years ago, on Charlie Ryan’s second birthday, a big lump mysteriously formed on the side of his abdomen. At the emergency room his parents took him to, doctors suggested the lump was a hernia caused by some unknown trauma, and referred the family to a surgeon. The surgeon told them it was a benign tumor, and sent them home.

Charlie already had a host of medical issues. He’d been born with an abnormally large head and other features of autism, including being nonverbal. Now this.

Like many a baffled and worried parent, his mother, Autumn Ryan, turned to Google, typing in Charlie’s ailments and coming up with a possible cause: a mutation in PTEN, a gene that reins in cell growth. Further searching led her to websites dedicated to families whose children have PTEN mutations. It all looked familiar—and worrisome. “I read stories of little boys who haven’t lived, descriptions of these children with a multitude of bumps all over their bodies,” Ryan recalls. “I was freaked out.”

Two years later, after visits to multiple doctors and the nine months it took for his genetic test to be analyzed, her hunch proved right. Charlie has a mutation in PTEN. Ryan immediately faxed the results to Charis Eng, a PTEN expert at the Cleveland Clinic in Ohio, whose name she had come across in her research. A few months later, the family made their first trip from their home in Tulsa, Oklahoma, to see Eng and her colleague, autism expert Thomas Frazier. Together, Eng and Frazier have treated more than two dozen children like Charlie—who all have PTEN mutations, autism, and large heads.

In Eng, Ryan finally found someone who understood Charlie’s condition. “It’s like going to the person who has all the knowledge in the world, and you can ask her any question,” Ryan says of Eng.

Eng was first and foremost a cancer geneticist, and stumbled upon PTEN-linked autism through her work in that field. In 1997, she discovered the genetic root of Cowden syndrome, a rare condition characterized by tumor-like growths and a high lifetime risk of many cancers. Following people with the syndrome, as well as their unaffected