Reed Magazine: One in Three Hundred Sixty Thousand (4/4)

Amy Frohnmayer, who has Fanconi anemia, headed off to Stanford University last fall. Two of her sisters have died from the disease.

Research on the cutting edge

When Amy Frohnmayer started kindergarten in the early 1990s, no one knew which genes caused Fanconi anemia, the disease she shares with roughly 3,000 people worldwide, including Nina Morrison.

By the time Amy started college last year, scientists had identified 11 genes, and had begun to understand how these genes normally defend healthy bodies against disease. That research—supported by the Oregon-based Fanconi Anemia Research Fund founded by Amy’s parents, Dave and Lynn—has inspired some optimism for families facing a disease that kills most patients by their twenties.

The condition was first described in 1927 by Swiss pediatrician Guido Fanconi. Important scientific breakthroughs came when researchers realized that all patients were sensitive to a type of genetic damage called crosslinking, which occurs when the bases that form the DNA molecule stick together during replication. That leads to constant breaking of DNA strands, something most people fix well, but not Fanconi patients.

Normal Fanconi genes help find and fix crosslinked DNA. Intriguingly, these genes somehow interact with BRCA1, a gene that, when mutated, predisposes carriers to breast cancer. BRCA2, a related gene, adds breast cancer risk with one mutant copy, and can cause Fanconi anemia in people with two mutant forms.

In the long run, people without Fanconi may benefit more from the research than the sick children involved. The links to adult cancers make Fanconi a kind of lab for studying the processes behind those conditions. Other cutting-edge research “may make Fanconi Anemia a poster child for where to take gene therapy next,” says Oregon Health & Science University’s Dr. Peter Kurre, who treats Nina Morrison.

The Fanconi Anemia Research Fund (541/687-4658, www.fanconi.org) provides seed money ($1.3 million in 2004) to scientists testing ideas too new to draw major government grants, says Lynn Frohnmayer. The group hosts a summer camp, and publishes handbooks for families and doctors. The Frohnmayers founded the group after their daughters were diagnosed; complications killed Katie Frohnmayer in 1991, at age 12, and Kirsten Frohnmayer in 1997, at 24. Amy, 18, is doing well, and is in her freshman year at Stanford University.

One in Three Hundred Sixty Thousand

Such uncertainty gnaws at Morrison and Altmann. “I’m a data-driven person,” he says. “Give me all the data, I’ll analyze it and make a decision.“ But with Fanconi anemia, “there’s not enough data . . . It kind of leaves you feeling utterly helpless.”

That feeling of helplessness hits other areas of life, too. The couple are concerned that the family could be subject to genetic discrimination. Paying for Nina’s care has also brought struggles. While the family had a major medical policy during her birth, the insurer tried to make them pay $40,000 of the nearly $100,000 hospital bill. Morrison spent several months fighting that charge, then tried to find full medical coverage. But no insurer would take on a low-profit patient like Nina. Finally, Morrison suspended his software business to work for Extensis, a Portland software company whose group health policy will enroll a child with a major illness.

The reaction to Nina’s illness among some longtime acquaintances also surprised the couple. When Altmann first emailed a dozen mothers in a playgroup about Nina, only four responded. “I have a friend I have known since I was five,” Altmann says. “She’s never acknowledged anything to me.”

The barrage of problems would make it easy to give in to fatalism, and Altmann and Morrison admit they ride an endless emotional roller coaster. But even at low times, Nina herself inspires love and hope. “The biggest positive we focus on is Nina,” Altmann says. “She is so cheerful, even when she’s sick — joyful, energetic, funny, and phenomenally cute.”

That spirit has inspired friends and strangers to offer everything from kind words to donations. Last summer, the playgroup came through, organizing a “Tiny Tot Trot” walk and lunch to raise funds for research. Altmann and Morrison have met others facing the same illness through an Internet listserve and a camp in Maine for Fanconi families.

“You form a different family, a family you didn’t want to belong to,” says Lynn Frohnmayer. She adds that, in her view, Fanconi patients see their world more with hope than despair. At a recent camp, five teens spoke about their experience. Four of them, she recalls, said they “felt lucky” to have this disease. “They felt they had been forced to view every day as a precious gift.”

Morrison and Altmann may not feel lucky. But Nina’s illness has made them think about life in new ways.

“I have a hard time with an omnipotent deity that makes innocent children suffer,” Morrison says. But, he adds, Nina “touches people spiritually, emotion-ally. Maybe people who aren’t going to live as long as most of us pack the same amount of spiritual connectedness into a shorter time, so it’s more intense.”

Andy Dworkin covers medicine for The Oregonian.