FOP, which strikes roughly one in 2 million people worldwide, causes
muscle and tendon to morph into hardened bone, imprisoning children in a
second skeleton. The horror of the disorder—shoulders, hips and jaws
fuse into locked positions—propels Kaplan's scientific mission. The
children, whose average life span is 45, drive his devotion. Kaplan, 54, has
spent more than 15 years unraveling the molecular and genetic blueprints
of FOP. Early on, his colleagues told him he was wasting his time on a
disease that afflicts fewer than 300 people in the United States. But Kaplan
powered on. "It was a compelling problem screaming for a solution," he
says. And nobody else was helping. "I wanted a mountain to climb."
In April, Kaplan, along with his colleague Dr. Eileen Shore, his team at
Penn and international collaborators, reached the summit: they pinpointed
a single gene mutation—one letter out of 6 billion in the human genome—
that causes the runaway bone growth of FOP. Uncovering the "master key
to the skeleton," as Kaplan calls it, could have dramatic implications. With
a genetic target in hand, scientists may be able to design a drug that turns
off the bone-growth switch in FOP. The discovery could also have an
impact well beyond FOP, stopping the complication of extra bone growth
after hip replacements or spinal-cord injuries. One day, says Kaplan, the
skeleton key might even allow researchers to grow bone in a controlled
way, helping people who suffer from osteoporosis or fractures that fail to
heal. A rare disease? Yes, but as Kaplan suspected from the very
beginning, one with universal applications.
As of now, there is no cure for FOP, no way to stop the explosion of new
bone, which is exacerbated by falls, bruises, injections and surgery. Even
today, few doctors know about the disease—close to 90 percent of
patients are initially given incorrect diagnoses, including cancer. The FOP
gene discovery gives Kaplan's patients great hope for the future, but it is
his compassion and infectious optimism that keep them going day to day.
Fred, as he's known to just about everyone, takes calls in the middle of the
night and on weekends, always ready to answer questions and soothe
concerns. "I don't think the poor man sleeps," says Carol Zapata-Whelan,
whose son Vincent was diagnosed with FOP in 1995. "He has so much
spirit and so much love and understanding," says Lori Henrotay, whose
daughter, Carli, was diagnosed in kindergar-ten. The first time they met,
Kaplan played patty-cake with Carli. "He knows how to make kids comfortable during a very scary time," says Lori. Carli, now 10, has bumps
of extra bone on her back, and her jaw and right hip have fused. Still, she
says she feels "lucky" to know Kaplan. "He gives us hope," she says.
Daniel Licht, who was diagnosed on his 3rd birthday, remembers playing
soccer with Kaplan, his "friend," in the long hallway of his lab. One recent
day in the exam room, Kaplan's hands rested gently, reassuringly, on the
bony knots on Daniel's back, neck and shoulders. When the visit was over,
Daniel, now 12, smiled. He says he knows why Kaplan works so hard: "To
help kids like me."
That help comes at no cost—Kaplan has never charged an FOP patient. "I
find it unconscionable," he says. "Who else are they going to turn to?"
Kaplan's salary comes from the university and an endowed chair; the
majority of his research dollars are raised by FOP families at barbecues,
golf tournaments and garage sales. Last year's total: $1.2 million. Kaplan
says he won't quit until there's an effective treatment—and a cure. In the
meantime he's cultivating young talent. This summer Vincent Whelan, now
19 and a pre-med student, will spend a week working in Kaplan's lab. "Dr.
Kaplan has really inspired me to want to be a doctor," he says. A great
legacy for a hero of a man.