The Nizar family suffers from Jansen’s disease, which causes bone curvature and affects fewer than 10 people in the United States – and Nina hopes to be the first human participant in a drug trial.
Nina Nizar’s Childhood
Nina Nizar was a mystery to doctors as a child. Her bones were fragile, and as she grew, they bent painfully – but no one seemed to know why. It wasn’t until her young son began to show similar symptoms that she learned the reason for her pain: Jansen’s disease, a structural disorder affecting fewer than 40 people worldwide, causing bone curvature. Her teenage sons have also been diagnosed with the disorder, but 45-year-old Nizar, who started the Jansen Foundation in 2017, is determined to find a cure. Next year, she will be the first person to test an experimental treatment that could also help people with cancer, kidney diseases, and other conditions. Nizar shares her story in this week’s issue of PEOPLE magazine.
Nina Nizar’s Childhood in Dubai
As a small child growing up in Dubai, United Arab Emirates, Nina’s parents noticed that her arms and legs were beginning to bend at alarming angles. Her bones seemed unable to support her own weight. When she didn’t walk on time, doctors suspected cerebral palsy or rickets. “But,” she says, “they had no idea what was wrong.”
Diagnosis of Jansen’s Disease
It took more than three decades to solve the mystery. In 2010, Nina was diagnosed, along with her two sons, with Jansen’s syndrome, which causes abnormal bone growth.
The Impact of Jansen’s Disease
Jansen’s disease causes a mutation in a gene that regulates bone growth, resulting in misshapen bones in the arms, legs, and spine. “Our bones are like paintbrushes in the limbs: soft and bendable,” says Nizar. Jansen patients suffer from short stature, jaw shortening, difficulty walking, and may develop kidney diseases and other complications due to calcium buildup.
Life with Jansen’s Disease
Since their diagnosis, Nina and her children have been three of the 30 known cases worldwide. Since then, she has dedicated her life to finding a cure. Next year, she hopes to be the first human to try an experimental treatment that can help Jansen patients and possibly millions suffering from kidney diseases, elevated thyroid hormone, cancer, and other conditions. “It’s not just about my children, it’s a bigger mission,” she says. “I know a cure is possible.”
Life in Dubai and the Challenges Faced
In the 1980s, when Nina was growing up in Dubai, there were few comforts for people with disabilities, so Nina’s father would carry her on his back to climb the stairs to her class and back down again at the end of the day. No one in her family had anything like Nina’s condition, so her parents took her from doctor to doctor, showing them her twisted shoe from her bones’ inability to support her weight. They left with no answers.
Treatment and Pain
When Nina was three, she went to London for surgery to correct her joints and had to learn how to walk again. As a teenager, she wore corrective devices called Ilizarov rings – “they looked like medieval torture devices,” she recalls. The devices had pins drilled into her leg bones, and she needed to tighten them daily. “There was a lot of growing pain,” says Nizar. “Even now, pain is part of our daily lives.”
Marital Life and Motherhood
When Nina met her husband Adam Tim, an American she got to know through an online religious forum, she had undergone nearly thirty surgeries. “When we met, I was worried if he would understand all my differences,” she says. “But that wasn’t a problem for him.”
Life
In America and Treatment
Nizar and Tim, who is 49 years old, moved to Omaha to be closer to Tim’s family and for better medical care. Their sons, who are now 15 and 13 years old, have undergone several surgeries to correct their bones, and Arshan has had surgeries to form gallstones and kidney stones.
Challenges and the Cheerful Spirit
For Nizar and her children, “walking around them is painful,” says Dr. Harald Gubner, head of the pediatric department at Massachusetts General Hospital and a leading expert on Janssen disease. The treatment primarily involves corrective surgery for the bones, but often the results are short-lived: “The bones are still growing, so the deformities return,” he says.
Both boys can walk inside the house but use powered wheelchairs outside. “Janssen makes childhood challenging,” says Nizar, who can also stand for short periods but relies mostly on a wheelchair. However, “they have an amazing spirit. They are cheerful and resilient and enjoy life despite their challenges.”
Interest in Art and Music
The boys love drawing and sculpting, and both play musical instruments (Arshan plays drums and Jahan plays piano) despite their bone challenges. “Janssen is a part of their daily life, but they are very happy,” says Tim.
Seeking Treatment
Living in America also means that Nizar can maintain close communication with Dr. Gubner, who led the team that discovered the mutation for the first time more than 20 years ago. Nizar, who started her own nonprofit Janssen Foundation in 2017, was the first Janssen patient the team met. “Nina is an amazing advocate for mobilizing people,” says Dr. Gubner. “Seeing her and her children and how they are so optimistic about treatment was moving. It put pressure on us. We have to work harder.”
Human Trials and Hope for Treatment
A few years ago, when there were only five known Janssen patients in the United States, Nizar was told by someone in the pharmaceutical industry: “No one will care about five people.” This comment pushed her forward: “It felt like our lives didn’t matter. I had a burning desire to prove the opposite.”
Her dedication helped secure a grant to fund the mouse research started by Dr. Gubner, and they recently learned that they received approval to begin human trials next year. Nizar is likely to be the first test subject, receiving two injections daily for about a month. If deemed safe, the treatment could mean a new hope for children with the disease.
“I have been waiting for this moment,” she says. “We don’t know how much it will help our family, but it could mean a better childhood for other children.”
Source: https://www.aol.com/nebraska-mom-her-two-sons-140000603.html
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