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

The Nizar family has Jansen's disease, which causes bones to bend and affects less than 10 people in the U.S. — and Neena hopes to be the first human participant in a drug trial

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, a skeletal disorder that 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 started The Jansen's Foundation in 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.

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.

Jansens' is caused by mutation on a gene that regulates bone growth, and as a result bones in the arms, legs and spine become deformed. “Our bones are like paintbrushes at the ends: soft and bendable,” says Nizar. Jansen’s patients are short in stature, have shortened jaws, difficulty walking and can develop kidney disease and other complications due to calcium buildup.

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.”

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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.”

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."

Timm was struck by her strength, rather than her fragility. At the time, Nizar was working as a teacher in Dubai and had also started a group that provided outreach to people with disabilities. “She tries to make it easier for those who have it difficult,” he says.

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.

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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.

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.

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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 nonprofit The Jansen’s Foundation in 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.”

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

Neena Nizar

A few years ago, when only five Jansen’s patients were known in the U.S., Nizar was told by someone in the pharmaceutical industry, “No one will care about five people.” That comment spurred her on: “It was like our lives didn’t matter. I had the burning desire to prove him wrong.”

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.”

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