This Nebraska Mom and Her Two Sons Have One of the Rarest Diseases in the World: 'Pain Is Part of Our Every Day' (Exclusive)

Mar. 15, 2025

Neena Nizar and her sons Arshaan and Jahan (photographed in November 2023 for PEOPLE) all have Jansen’s disease.Photo:Joy Neville

Joy Neville

As a child, Neena Nizar was a mystery to doctors. Her bones were weak, and as they grew, they curved painfully — but no one seemed to know why. It wasn’t until her toddler son began showing similar symptoms that she learned the cause of her pain: Jansen’s disease, askeletal disorderthat affects less than 40 people worldwide and causes bones to bend. Both her sons, now teenagers, have been diagnosed with the disorder, but Nizar, 45, who startedThe Jansen’s Foundationin 2017, is determined to find a cure. Next year, she’ll be the first to test an experimental treatment that could also help people suffering from cancer, kidney disease and other conditions. Nizar shares her story in this week’s issue of PEOPLE.

When Neena Nizar was a toddler growing up in Dubai 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, handcrafted shoes to help support her weak ankles and built her 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.

Neena Nizar photographed for PEOPLE, November 2023.Joy Neville

It took more than three decades to solve the mystery. In 2010 Nizar, along with her two sons, was finally diagnosed withJansen’s metaphyseal chondrodysplasia, which causes abnormal bone growth.

At the time of their diagnosis, 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.”

Dubai in the 1980s, when Nizar was growing up, had few accommodations for disabilities, so each school day Nizar’s father would carry her up the stairs to her classroom and down again at the end of the day. No one in her family had anything like Neena’s condition, so her parents took her to doctor after doctor, showing them her shoes, which were bent out of shape because her bones weren’t supporting her weight. They left without answers.

When Neena was 3, she went to London for surgery to straighten her hips and had to learn to walk again. As a teen she wore corrective braces called Ilizarov rings—“akin to a medieval torture device,” she recalls. The braces had pins that were drilled into her leg bones and had to be tightened daily. “There was a lot of pain growing up,” says Nizar. “Even now pain is a part of every day.”

Neen Nizar’s son Arshaan’s legs in 2015.Courtesy Neena Nizar

Courtesy Neena Nizar

Arshaan (in 2016) wearing the same type of corrective device his mother had to wear as a child.Courtesy Neena Nizar

By the time Nizar met her husband, Adam Timm, an American she came to know through an online religious forum, she’d undergone nearly three dozen surgeries. “When we met each other, I was worried whether he would understand all my differences,” she says. “But that was never a problem for him.”

Doctors told her she’d never have children. “They said my bones weren’t strong enough,” she says. But the couple married in 2006, and two years later Nizar, then a teacher in Dubai, had their son Arshaan.

Arshaan showed no symptoms until Nizar was pregnant with her second son, Jahan, in 2010. By then Arshaan had developed a distinctive waddle, his knees were starting to thicken and his feet were bending. “We saw he had what I had, but what was it?” says Nizar.

She gathered X-rays of her son and herself and scans of Jahan, who was showing signs of limb abnormalities in utero, and sent them to specialists around the world, with no reply.

At last, while visiting family in India, she went to see a geneticist, who turned to Nizar and said, “I know what you have.” Despite learning she and her sons had a rare and incurable disease, relief poured over her: “I worried about their physical limitations and the surgeries that would be a part of their lives. But a diagnosis meant we were not in the dark.”

In 2015 Nizar and Timm, 49, moved their family to Omaha to be near Timm’s family and better medical care. Their boys, now 15 and 13, have each undergone multiple bone-correction surgeries, and Arshaan has had kidney and gallbladder stones.

Adam Timm and Neena Nizar and their sons, Arshaan and Jahan, photographed for PEOPLE, November 2023.Joy Neville

For Nizar and her boys, “just walking around is painful,” says Dr. Harald Jueppner, chief of pediatric nephrology at Massachusetts General Hospital and a leading expert on Jansen’s. Treatment primarily consists of corrective surgery to straighten bones, but often results are short-lived: “Bones are still growing, so the deformities reemerge,” he says.

Both boys can walk inside their home but use motorized wheelchairs outside. “Jansen’s makes childhood difficult,” says Nizar, who can stand for short periods as well but otherwise relies on a wheelchair. But “they’ve got amazing spirits. They are funny and resilient and enjoy their lives despite their challenges.”

The boys love to draw and sculpt and both play instruments (Arshaan plays drums and Jahan, piano) despite their bone challenges. “Jansen’s is part of their every day, but they’re very happy,” says Timm.

Jahan and Arshaan Timm, photographed at home in Nebraska for PEOPLE, November 2023.Joy Neville

Living in America also meant Nizar could be in close contact with Dr. Jueppner, who led a team that first identified the mutation more than 20 years ago. Nizar, who started her nonprofitThe Jansen’s Foundationin 2017, and her boys were the first Jansen’s patients he ever met in person. “Neena is an amazing advocate for mobilizing people,” Dr. Jueppner says. “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.”

Neena Nizar meeting Dr, Harald Jueppner in 2016.Courtesy Neena Nizar

Neena NizarWhen people see us, they’ll find smiling faces and life worth living and hope

Neena Nizar

When people see us, they’ll find smiling faces and life worth living and hope

Her dedication helped secure a grant to push forward mice research that Dr. Jueppner had begun, and they recently learned that they received approval to begin human trials next year. Nizar will likely be the first test subject, receiving twice daily injections for about a month. If deemed safe, the treatment could mean a new hope for children 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.”

Neena Nizar with her husband Adam Timm and their sons Arshaan and Jahan, photographed at home in Nebraska for PEOPLE, November 2023.Joy Neville

source: people.com