On a bright September day in 2008, 8-year-old Corey Haas gingerly walked up a pathway towards the zoo with his parents, looked up, and screamed.

Four days earlier, Corey had undergone gene therapy to cure hereditary blindness, and now the sun was hurting his eyes. 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 city.

The Forever Fix: Gene Therapy and the Boy Who Saved It, tells Corey’s story against the backdrop of other children treated since the field was born in 1990, and those about to undergo gene therapy. (It covers Leber congenital amaurosis, ornithine transcarbamylase deficiency, combined severe immune deficiency, adrenoleukodystrophy, giant axonal neuropathy, Canavan disease, and others.) The treatments, pioneered on rare, single-gene diseases because they were well understood, will reverberate to many more common illnesses. St. Martin’s Press will publish the book in March 2012.

The real story behind The Forever Fix is that I could have written it in any of thousands of different ways, because there are so many rare diseases with stories to tell. And that’s why I’m here – to tell your stories. In the months to come, I’ll write about the book’s characters, and others. If you have a story, but not a fondness for writing, please e-mail me and perhaps I can help you to share it.

The Forever Fix grew out of writing my college textbook, Human Genetics: Concepts and Applications. I’d always include essays from families with rare diseases. But my initial inspiration echoes back 30+ years to a luminary in the rare disease world, Marjorie Guthrie.

It was spring 1979, and I was working on my PhD in genetics at Indiana University - but not thrilled with the idea of a future dissecting fruit flies (the ones I was working with had legs growing out of their heads). Should I, could I, go into science journalism instead?

I was writing for the school paper and 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. She showed the articles to the head of the organization, who wrote me a letter. I stuffed it into my back jeans pocket, not noticing the signature - until I finally washed the jeans. Being a grad student, that was several weeks.

The letter was from Marjorie Guthrie. A light bulb went off in my brain as I slowly realized this was the wife of Woody Guthrie, the famous folksinger who died of Huntington’s disease, a terrible neurological disease, in 1967. Thrilled, I wrote back, and arranged to meet her next time I went home.

A few weeks later, at the offices of CCHD in a Manhattan skyscraper, I walked down a hallway lined with framed Bob Dylan gold records, into her office. 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 stood looking at the map, and 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.” It was the first time I’d heard the term. Marjorie then whooshed into the room, asked her adult son if he had train fare, and turned to me.

Her story burst forth as she told me about how she crisscrossed the country, trying to get disease organizations to share resources and information. I 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!” She was so 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.”

Marjorie Guthrie died in 1983, the year the Huntington’s marker was found, leading to the gene discovery a decade later. That year, 1993, I wrote the first edition of my textbook, her spirit guiding me in seeking out families with orphan diseases. They still speak from my textbook, now in its tenth edition.

Please send me your stories! We must continue Marjorie Guthrie’s work.