Neena Nizar has one of the rarest diseases in the world. She is one of just 30 documented cases of Jansen's Metaphyseal Chondrodysplasia. However, her disease remained a mystery to her for all of her life, until she decided she wanted to start a family. Her desire to have children would reveal the true nature of her ailment, but it would also set her out onto a path in search for a cure.
When she was a young girl, it was clear that Nizar’s body was struggling with a disability. But she did not know what was wrong. She and her family traveled far and wide in the hope of finding a diagnosis for her illness, only to be misdiagnosed countless times. She was told she had polio, rickets and sometimes even “I don’t know”. The rarity of her disease made its diagnosis elusive, but that didn’t stop her from pursuing a life full of happiness.
When she and her husband wanted to expand their family and have children, they were first told it would be impossible because of Nizar’s disability.
“We were told it would not be possible and in fact were looking at adopting, when God blessed us with a baby boy,” explained Nizar. “Arshaan was born on July 3, 2008, at almost 9 pounds and extremely healthy. There was no sign of any skeletal abnormalities. He reached all his milestones and followed a path much unlike my early days. He was nothing like me, so we never even imagined he had inherited the same condition.”
Although Arshaan had appeared to be normal, he quickly started showing signs that something wasn’t quite right.
“It was only two years later, when I was pregnant with my second son, Jahan, that our world turned upside down,” Nizar continued. “Almost overnight, Arshaan began to regress. His x-rays looked nothing like mine, but it was clear something was wrong. Ultrasounds of the new baby also showed something was not right. Questions of abortion were brought up with us, but we knew this was something we would never consider. If God brought us to this point, He would certainly have a plan for us. We stood firm in our faith and welcomed Jahan Adam on October 14, 2010.”
With two young children under her wing, Nizar was being faced once again with the difficulty she had endured as a young child searching in vain for a diagnosis. But she was determined to do everything she could to see that her boys didn’t face the same hardships as she did.
“It was through Jahan that we finally got a diagnosis for all three of us. We had sent x-rays all across the world, but nobody had any answers for us. Finally, we found a geneticist, in India, who had seen an x-ray of a Jansen’s case while a student in Germany. Her professor at the time had said, ‘We’re going to skip this slide because you will never come across a case’, but she did. She now had three cases right in front of her.”
Nizar was heartbroken to learn that she had given her infliction to her children. “As a mother, you want to do nothing but protect your child, but here I passed down the ill-fated Jansen’s gene to both my kids, and now they too have a 50% chance of passing it down to their offspring.”
Jansen’s Metaphyseal Chondrodysplasia is an ultra-rare progressive and debilitating skeletal dysplasia. Jansen’s patients are unable to use the calcium in their bodies to make strong bones. As a result, there is a calcium build up in the blood that can damage the kidneys and cause deformities in most of the body’s long bones. Under such conditions, bones will start to act almost like playdoh and bend under the weight of the body. Surgeries are required to keep the alignment in place and reduce pain. Because the disease is so rare and still in need of a lot of research, Jansen’s largely remains a mystery to doctors.
Although there was little information recorded about the disease, Nizar explained that her experience taught her “there was hope”. When she realized treatment was available in the United States, she left everything in Dubai to travel halfway across the world and make a new home for her family.
She then tracked down a researcher in Boston, and set up The Jansen’s Foundation to create awareness of the disease and fund research for a possible cure. “We realized my story and my experience with the disease could help new patients on their own journey,” she added.
“Disability has always been a part of my social makeup. I had achieved success, knew my worth as a person, and found my place in society. Sure, there was pain and hardship, but there were also smiles and laughter. I am a mother now and it is my duty to do the best I can for my boys. It will not be easy, but we surely aren’t going to give up,” stated Nizar.
Since setting up the foundation, they have been able to locate other cases of Jansen’s and formed an online community for those coping with the disease. The website features stories from Jansen’s patients from around the world, as well as stories of progress from Nizar’s two young boys as they march forward into their life journeys.
“The disease will always be a part of us, but we can strive to make the most of this life given to us, and that’s what we do,” said Nizar.