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

When she was 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 young son began showing similar symptoms that she learned the cause of his pain: Jansen’s disease, a bone disorder that affects fewer than 40 people worldwide and causes bones to bend. Her sons, now teenagers, have both been diagnosed with the disorder, but Nizar, 45, who launched The Jansen’s Foundation in 2017, is determined to find a cure. Next year, she will be the first to test an experimental treatment that could also help people with cancer, kidney disease and other conditions. Nizar shares his story in this week’s edition of PEOPLE magazine.

When Neena Nizar was a toddler growing up in Dubai, United Arab Emirates, her parents noticed that her arms and legs began to bend at alarming angles. Her bones seemed unable to support their own weight. When she did not walk in time, doctors suspected polio or rickets. “But,” she says, “they really had no idea what was wrong.”

Desperate to fix his daughter’s painfully crooked limbs, Neena’s father, an engineer, handcrafted shoes to support her weak ankles and made her walkers to help her stand. When she was 5, he laid Neena on an ironing board and gently tied her to it, hoping to straighten the twists in her limbs and back. “He tried everything to help and solve 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 with Jansen metaphyseal chondrodysplasia, which causes abnormal bone growth.

Jansens’ is caused by a mutation in a gene that regulates bone growth, and as a result the bones in the arms, legs and spine become deformed. “Our bones are like brushes at the ends: soft and pliable,” says Nizar. Jansen’s patients are short, have a shortened jaw, have difficulty walking, and can develop kidney disease and other complications from calcium build-up.

At the time of their diagnosis, Nizar and her sons were three of only 30 cases known worldwide. Since then, she has been dedicated to finding a cure. Next year, he 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 healing is possible.”

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Dubai in the 1980s, when Nizar was growing up, had few accommodations for people with disabilities, so every school day Nizar’s father would carry her up the stairs to her classroom and back 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 because her bones couldn’t support her weight. They left without answering.

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

Neen Nizar’s son’s legs, Arshaana, 2015.

Courtesy of Neena Nizar

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

Courtesy of Neena Nizar

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

Timm was amazed by her strength, not her fragility. At the time, Nizar was working as a teacher in Dubai and also started a group to help people with disabilities. “She tries to make it easier for those who are having a hard time,” he says.

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

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

She collected X-rays of her son and herself, as well as images of Jahan, who showed signs of limb abnormalities in the womb, and sent them to experts around the world, with no response.

Eventually, while visiting family in India, she went to a geneticist, who turned to Nizar and said, “I know what you have.” Despite learning that she and her sons have a rare and incurable disease, she felt relieved: “I was worried about their physical limitations and the surgeries that would be a part of their lives. But the 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 for better medical care. Their boys, now 15 and 13, have undergone multiple bone-correcting surgeries, and Arshaan has kidney and gallstones.

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

Both boys can walk inside their house, but use motorized wheelchairs outside. “Jansen makes childhood difficult,” says Nizar, who can also stand for a short time but otherwise relies on a wheelchair. But “they have incredible spirits. They are witty and resilient and enjoy their lives despite the challenges.”

The boys love to draw and sculpt and both play instruments (Arshaan plays the drums and Jahan the 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

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Living in America also meant that Nizar was able to be in close contact with Dr. Jueppner, who led the team that first identified the mutation more than 20 years ago. Nizar, who started her own nonprofit, The Jansen’s Foundation, in 2017, and her boys were the first Jansen patients he met in person. “Neena is an incredible advocate for mobilizing people,” says Dr. Jueppner. “Seeing her and the boys and how hopeful they are for treatment was amazing. That created pressure for us. We have to work harder.”

Meeting of Neena Nizar with Dr. Harald Jueppner in 2016.

Courtesy of Neena Nizar

Neena Nizar

When people see us, they will find smiling faces and a life worth living and hope

— Neena Nizar

A few years ago, when only five Jansen patients were known in the US, someone in the pharmaceutical industry told Nizar, “Nobody’s going to care about five people.” That comment encouraged her: “It was like our lives didn’t matter. I had a burning desire to prove him wrong.”

Her dedication has helped secure support to advance the mouse research Dr. Jueppner began, and they recently learned that they have received approval to begin human trials next year. Nizar is likely to be the first subject to receive injections twice a day for about a month. If deemed safe, the treatment could mean 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

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