For most of her life, Neena Nizar experienced weakened and crooked bones that caused her pain and made walking difficult. But doctors never knew why.
“My parents would really tell doctors, ‘Her bones are bending,’ and they wouldn’t really believe it,” the 46-year-old from Nebraska tells TODAY.com. “I grew up with lots of corrective surgeries and living with a misdiagnosis for most of my life.”
When she was 32, she finally learned what caused her bowed bones — an ultra-rare disease, Jansen Metaphyseal Chondrodysplasia.
“I had almost given up, honestly,” she explains. “The world suddenly made a lot more sense.”
In 2015, Nizar was talking to some researchers about Jansen, which causes swelling and stiffness of joints, high levels of calcium in the blood in addition to bent, fragile bones. At the time, she had identified five patients in the world with it, including herself and her two sons.
Nizar was lobbying for studies on Jansen to find a potential therapy or cure when a researcher said something shocking to her.
“Somebody actually told me, ‘No one is going to care about five patients,’” Nizar says. “They were actually telling me that my life and my kids’ lives didn’t matter.”
Nizar didn’t let that discourage her. She will be the first person to undergo treatment in the first-ever clinical trial for Jansen, followed by two other adults enrolled in it. Her sons will participate, too.
“Sometimes it can take a mountain to climb to be able to get to the other side of treatment,” Nizar says. “Our story is really important because it shows that every life has value, and every life is worth fighting for.”
Nizar’s story is not unlike others with rare diseases. The National Institute of Health…
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