LIVING WITH JANSEN'S DISEASE A RARE DISORDER, A MOTHER'S FIGHT

FEWER THAN 10 PEOPLE IN THE U.S. HAVE JANSEN'S DISEASE, A SKELETAL DISORDER THAT CAUSES BONES TO BEND. NEENA NIZAR AND HER SONS ARE THREE OF THEM-BUT SHE'S DETERMINED TO FIND A CURE

-  EILEEN FINAN

When Neena Nizar was a toddler in the United Arab Emirates, her parents noticed her arms and legs starting to bend at alarming angles. Her bones seemed unable to bear her own weight. When she didn’t walk on time, doctors suspected polio or rickets. “But,” she says, “they didn’t really have any idea what was wrong.”

Desperate to fix his daughter’s painfully crooked limbs, Neena’s father, an engineer, crafted shoes and hand-built walkers to help her stand. When she was 5, he lay Neena on an ironing board and gently bound her to it, in hopes of straightening the twists in her limbs and back. “He tried everything to help and to figure out this problem that no one understood,” says Nizar, now 45.

It took more than three decades to solve the mystery. In 2010 Nizar, along with her two sons, was finally diagnosed with Jansen’s metaphyseal chondrodysplasia, which causes abnormal bone growth (see sidebar). At the time, Nizar and her sons were three of only 30 cases known worldwide. Since then she’s been devoted to finding a cure.

Next year she hopes to be the first human to try an experimental treatment that could help Jansen’s patients and, potentially, millions suffering from kidney disease, hyperparathyroidism, cancer and other conditions: “It’s not just my boys, it’s a bigger mission,” she says. “I know treatment is possible.”