I knew we had to get the kids treatment, she said.
Dr. Harald Jueppner, a pediatric nephrologist at Massachusetts General, was the researcher who first identified the mutation that caused the condition. Dr. Nizar learned that he had been studying the mutated gene, called a PTH/PTHrP receptor, for 20 years out of scientific interest. But he had never seen a patient. She told him he could now see three herself and her two sons.
She also learned that Dr. Jueppner and a colleague, Thomas Gardella, had found in lab experiments that certain peptides, or short chains of amino acids, looked promising as possible treatments for Jansens. At that point Dr. Nizar latched onto the researchers, urging them to study the peptides for Jansens. They tried one of them in animal experiments. It partially reversed some of the bone abnormalities, Dr. Jeuppner said, but, he added, remember, this mouse model of Jansens is far from being ideal.
Dr. Nizar stayed in constant contact with Dr. Jueppner and Dr. Gardella prodding them to not lose sight of the work.
Working with Neena has been an incredible experience. Dr. Jueppner said. She is a force of nature.
In 2017, Dr. Nizar set up a foundation to support research. But she was not in a good position to fund raise. We only had eight patients, and I couldnt go to GoFundMe. My family and friends are tired of giving me money, she said.
So Dr. Nizar spoke to experts at conferences hosted by the National Institutes of Health, hoping to find a way to receive research funds. With her enthusiastic prodding, Dr. Jueppner and Dr. Gardella received a grant to study and improve the peptides theyd found as a possible Jansens treatment
In 2018, Dr. Nizar asked the F.D.A. for guidance. They were surprised we didnt have a drug company, she said. I told the lady at the F.D.A. that, at this point, I am the drug company.
Original post:
It Will Consume Your Life: 4 Families Take On Rare Diseases - The New York Times
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