On a bright September day in 2008, 8-year-old Corey Haas clutched his parents’ hands as he hesitantly followed a path towards the zoo. Suddenly he looked up, and screamed.
Four days earlier, Corey had undergone gene therapy for a rare form of blindness (Leber congenital amaurosis type 2), and now the sun was hurting his eyes – for the first time. Corey’s suddenly restored vision marked not only an astonishing medical recovery, but a renaissance in gene therapy, a biotechnology sidelined nine years earlier when an 18-year-old, also with a rare disease, died in a similar experiment in the very same place – Children’s Hospital of Philadelphia.
The Forever Fix: Gene Therapy and the Boy Who Saved It (St. Martin’s Press, March 2012) tells Corey’s story against the backdrop of other kids treated since the field began in 1990. The treatments, pioneered on rare, single-gene diseases because they were well understood, will reverberate to many more common illnesses.
The real story behind The Forever Fix, says author Ricki Lewis, is that she could have written it many different ways, because gene therapy has the promise to help in treating many rare diseases. The technology replaces faulty genetic instructions with healthy DNA sent into affected body parts as part of viruses.
Although The Forever Fix grew out of writing many editions of a college human genetics textbook, Lewis says, her initial inspiration came from a luminary in the rare disease world: Marjorie Guthrie.
It was spring 1979, and Lewis, working on flies with legs growing out of their heads for her PhD research at Indiana University, started writing for the school newspaper. She had just done a series on genetic counseling, which a professor had sent to his mother-in-law, a volunteer for The Committee to Combat Huntington’s Disease (CCHD) in New York City. The volunteer showed the articles to the head of the organization, who wrote to Lewis.
The harried graduate student quickly read the letter, smiled at the encouragement to continue writing, and then stuffed it into her back jeans pocket. Weeks later, after washing the jeans, she found the note – and this time, read the signature. It was from the wife of legendary folksinger Woody Guthrie, who had died of Huntington’s disease in 1967.
Lewis wrote back, and a few weeks later was walking down a hallway at the offices of CCHD in a Manhattan skyscraper. Gold records for Bob Dylan, a friend of Woody’s, lined the hallway towards Marjorie’s office. Inside, piles of medical journals and songbooks formed pillars obscuring a large map of the U.S. pocked with pushpins indicating HD families. A tall man with a lot of hair, Lewis remembers, stood looking at the map. Then he slowly turned around.
“Arlo strode over, shook my hand, and introduced himself, as if I wouldn’t instantly recognize him. Much to my shock, he knew my name. He’d read the articles – and encouraged me to continue writing about Huntington’s and other ‘orphan diseases,’” Lewis recalls. It was the first time she’d heard the term. Marjorie then whooshed into the room, asked her adult son if he had train fare, and turned to Lewis.
Marjorie’s story poured out about how she crisscrossed the country, imploring disease organizations to share resources. The young writer scribbled notes. “We must bring HD out of the closet, and demand that families, physicians, and researchers know that we exist. There was a family of 50 in South Carolina who thought it was their own disease!” said the woman who was far ahead of her time. “I don’t believe in a clinic for every disease. There are common problems in diseases such as multiple sclerosis, cerebral palsy, and Huntington’s disease.” Her passion had a profound influence on Lewis’ career, which is now coming full circle with the new book.
Marjorie Guthrie died in 1983, the year the Huntington’s marker was found, leading to the gene discovery a decade later. That year, 1993, Lewis wrote the first edition of her genetics textbook, Guthrie’s spirit guiding her as she sought families with orphan diseases to contribute essays to the book. They still do, in the textbook that is now in its tenth edition.
More importantly, Lewis says, Guthrie inspired her to tell the stories of gene therapy that propel The Forever Fix. She will be sharing some of those stories, and others, here at CheckOrphan.Contact Mary Schwartz Director, PC Project 877-628-7300 email firstname.lastname@example.org