The relief was short-lived. Nina showed little interest in food, so her parents began dishing up homemade avocado ice cream and substituting heavy cream for milk to boost her caloric intake. In January 2005, Nina was admitted to Doernbecher Children’s Hospital to be fed through a tube.
In the hospital, Altmann asked for a genetics consultation. Dr. Markus Grompe, one of the world’s top Fanconi anemia experts, took the call. He read Nina’s chart, then asked to see her. Nina was asleep, and Altmann didn’t want to wake her. “Well,” Grompe said, “just tell me about her thumbs.” Altmann’s jaw dropped.
Some Fanconi patients show few symptoms. But many, like Nina, have an array of defects including kidney and digestive problems, small stature, and malformed thumbs. “I was kind of blown away that she hadn’t been diagnosed previously,” Grompe says.
It is unclear why Fanconi anemia causes such diverse problems. But in the past decade, scientists have uncovered some of the disease’s secrets.
They now know there are roughly a dozen disease subtypes, each pegged to a different mutated gene. Those genes normally help find and fix broken DNA strands. Since DNA frequently breaks during replication and protein production, such genes are crucial for stopping biological chaos, especially cancers.
Nina has one of the rarer forms of Fanconi anemia, recorded in only a couple dozen people. “All
indications from those two dozen patients are that this is by far the worst kind of Fanconi anemia
you can have,” Altmann says. Nina’s hematologist, Dr. Peter Kurre, calls her prognosis “really
What is clear is that Nina will eventually face a crisis—either anemia, or a blood, brain, or kidney cancer. And then, Nina’s illness will make treatment risky. The Fanconi defect makes cells highly sensitive to damage from radiation and many cancer-fighting drugs. Marrow transplants can fix aplastic anemia and prevent leukemia, but they hand families a dilemma. The transplants work best when patients are relatively healthy, but the immune system has to be suppressed to reduce the risk of rejection. Fanconi anemia patients face a 40 percent risk of death within a year of transplant.
“It’s an exceedingly difficult decision,” Kurre says. “You look at your healthy child and say, ‘Is it time? Or do I wait a year?’”