Members of a Nebraska Family Have One of the World’s Rarest Diseases. They Hope To Be a Part of a Groundbreaking Study

Members of a Nebraska Family Have One of the World’s Rarest Diseases. They Hope To Be a Part of a Groundbreaking Study

Neena Nizar started the Jansen’s Foundation to help find a cure

Published |Updated

Monique Merrill

Neena Nizar Courtesy of The Jansens Foundation

A Nebraska woman and her two children are among the fewer than 40 people in the world to live with a rare skeletal disorder, and next year the mother will be the first to undergo an experimental treatment.

Neena Nizar, 45, and her two teenage sons have Jansen’s disease, a rare, progressive disorder that causes bones to bend, and Nizar shared her story about the race to find a cure and her experience with the disease with People.

Nizar’s parents first noticed something was different about her when her arms and legs started to bend at odd angles, and she walked later than other kids, she told the magazine.

Doctors “didn’t really have any idea what was wrong,” she said.

Her father crafted her special shoes, walkers and contraptions to help her mobility.

“He tried everything to help and to figure out this problem that no one understood,” Nizar said. It took until 2010 for Nizar to be diagnosed with Jansen’s metaphyseal chondrodysplasia. Her two sons were also diagnosed.

The condition causes deformation in arm, leg and spine bones due to a mutation in a gene.

After Nizar was finally diagnosed, she began to devote herself to finding a cure. Those with Jansen’s can develop other medical complications, including kidney disease.

There’s an experimental treatment Nizar hopes to be the first to try that could change the outlook for her and others who have a variety of conditions including cancer, hyperparathyroidism and kidney disease, she told the magazine.

“It’s not just my boys, it’s a bigger mission,” Nizar told People. “I know treatment is possible.”

She started the Jansen’s Foundation in 2017. Though the disease is rare, Nizar was determined to push research forward in the hope of finding a cure.

“Neena is an amazing advocate for mobilizing people,” Dr. Harald Jueppner, a leading expert on Jansens and chief of pediatric nephrology at Massachusetts General Hospital, told People. “Seeing her and the boys and how hopeful they are for a treatment was striking. It put pressure on us. We have to work harder.”

Now, Nizar has a human trial of an experimental treatment to look forward to next year. She will likely be among the first test subjects for a treatment that could radically change the outlook for others with the disease.

“I’ve been waiting for this moment,” she says. “We don’t know how much it will help our family, but it could mean other children have a better childhood.”