By Rachel Reiff Ellis
When Neena Nizar was a child, doctors attributed the skeletal problems that gave her clubbed fingers and made her bones soft and prone to bending to polio, then later, rickets, both of which she would later learn were incorrect. It would take 32 years, multiple surgeries, and a dogged pursuit of a diagnosis before she learned the truth.
Physical challenges didn't hold Nizar back from academic success. She blazed through bachelor's, master's, and eventually a doctorate in education. She met and married her husband Adam, and in 2008, became pregnant with their first child.
Her son Arshaan was robust and healthy, meeting all his milestones. "We had no inkling anything was wrong," Nizar says.
But 2 years later, 3 months into her second pregnancy, Nizar noticed familiar and worrying signs in Arshaan's frame. His ankles and wrists looked abnormally wide, his feet were beginning to bow, and his chest was narrowing. Soon, he struggled to walk. The doctors were stumped, as they'd always been with Nizar.
"I started sending X-rays to every skeletal dysplasia unit around the world, asking if anyone could tell me what this was," she says.
Soon she was driving 7 hours with her father and toddler Arshaan to see Sheela Nampoothiri, MD, a pediatric geneticist in South India.
Nampoothiri took one look at Arshaan's X-rays and recognized it: Jansen's metaphyseal chondrodysplasia, or Jansen disease. Nizar couldn't believe a lifetime of mystery had been solved before her eyes. "Even now, when I tell the story, it gives me goosebumps," she says.
Only about 30 cases of the genetic long bone development disease have been reported worldwide — including Nizar and her sons.
After the diagnosis, Nizar tracked down Harald Jueppner, MD, a Jansen disease researcher and chief of pediatric nephrology at Massachusetts General Hospital and a professor of pediatrics at Harvard Medical School. Although Jueppner had studied Jansen disease for over 20 years, he'd never met anyone with it. He and Nizar met on Rare Disease Day at the National Institutes of Health (NIH) on Capitol Hill.
"I told him I wanted to change the narrative for my children because I can't imagine them going through all I've been through," she says. He shared her passion but told her they'd need funding.
So Nizar started The Jansen's Foundation. Through it, she helped Jueppner and his team at Harvard get an R01, a research project grant from the NIH. That seed money funded preclinical research, and since then, the foundation has broadened fundraising efforts and provides resources and support for 13 patients in the U.S., Spain, Brazil, Portugal, and Australia.
And Nizar offered her own DNA so that researchers could develop a treatment that will enter clinical trials later this year. She will be its first subject.
"Neena has been a driving force behind the whole project," Jueppner says. "Without her, we would not have pursued the lab work that we are doing right now with different cell lines, but more importantly, with different animal strains. And without her, the NIH wouldn't have been involved in any of the clinical development that is ongoing now."
In many ways, Nizar says she's become an advocate not just for Jansen's, but for rare diseases of all kinds.
"I recently joined ICON Clinical Research Organisation as their director of patient advocacy strategy and am working to help more rare diseases shorten the pathway to treatment by incorporating the patient voice into clinical trial development right from the beginning of the process," she says. "I'm thankful that in all of the darkness, there are people who see value in the patient and say, 'We're going to help.' Without that, we wouldn't have hope."
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