As researchers search for causes of a rare genetic disorder, one family copes with its effects on their growing daughter.

By Andy Dworkin
Photos by Lisa Bauso

For Rachel Altmann ’88 and Tyler Morrison ’90, life changed in waves of sound and light.

The couple’s first child, Benjamin, was born big and healthy in 1996. So Altmann and her doctor were both surprised in 2003 when, after seven months of pregnancy with her second child, Nina, Altmann’s belly quit growing. The obstetrician had just bought a new ultrasound machine and decided to test it out.

“It was a very scary picture,” says Morrison. “You could see the skull, and the whole center was filled with black fluid. I thought, ‘My baby has no brain.’”

Until a neurosurgeon operated right after birth to relieve excess spinal fluid, no one could know how much Nina’s brain would bounce back.

“That whole first 24 hours was awful,” Altmann remembers. But it was just the introduction to a tangle of crisis, confusion, and hope that will stretch through Nina’s life.

Nina has Fanconi anemia, a rare, recessive genetic disease that strikes about one in 360,000 newborns in the United States. The illness cripples an important DNA-repair system, leaving patients at high risk for cancers and aplastic anemia, a failure of the bone marrow to make new blood cells. While a few Fanconi anemia patients reach middle age, others die in childhood. The average life expectancy is 22. Treatments are risky and there is no cure, not even a good theory how to fix a problem built into every cell of the body.

The illness can wrap families like Nina’s in confusion, isolation, and loss, says Nancy Cincotta, a social worker at Mt. Sinai School of Medicine in New York. “It hits you so hard it kind of challenges your whole world. A lot of people define their lives as life before your child was diagnosed and life after.”

Altmann and Morrison now live across that line. Nina’s diagnosis means new routines: sleepless nights, endless blood draws and MRIs, and the knowledge a crisis will someday strike. It spurs them to support research into Fanconi anemia and to preserve Nina’s quality of life. It has led Morrison to change jobs and Altmann to put off a return to the workforce. And it has reshaped the way they think of friends, family, and life.

“It has really opened my heart,” Altmann says. “Nina walks into a room and everything changes. She just has something that sort of gets people’s attention.”