The baby looked healthy at first. He was born by Caesarean section, and his skin color and breathing looked perfectly healthy. But within two hours of birth, he was having severe seizures. The staff at the Rambaum Medical Center in Haifa, Israel were doing a routine check when they realized that the baby was not well. They transferred him to the neonatal intensive care unit right away.
Dr. Hanna Mandel was the leader of the unit. Dr. Mandel and her team began doing tests, hoping to make a diagnosis. But every test came back negative. More than a dozen routine tests came back normal. No infections or clues in any of his fluids. They did not know what was wrong with the baby.
So when the baby was three weeks old, he was sent for brain scans, and the images showed a lack of myelin, which is a coating around nerves, that acts like plastic insulation around an electrical wire. Without that insulation, the wires, the neurons, cannot carry a signal as far or as fast. So as the child grew older, his development lagged; he could not move on his own. Parts of his brain were beginning to atrophy.
When he was 4 years old, Dr. Orly Elpeleg, a specialist in rare genetic diseases at Hadassah-Hebrew University Medical Center in Jerusalem, led a team that sequenced and analyzed the boy’s genome, looking for mutations that he might have inherited from both of his parents, who are cousins. They found a mutation that had never been found in any patient. Elpeleg went to a database for medical research and found the world’s experts on the gene in question at a Brain Science Institute in Japan. The Israeli team sent a sample of the child’s tissue to the Japanese team and they solved the genetic piece of the child’s sickness. A British team found another child with the same symptoms. So now with a diagnosis the child gets a lot of medical support, and his parents have received genetic counseling about future pregnancies.
This was a medical mystery that took years of hard work to figure out. I know about this story because my friend Jerry Putterman read an article about it that in turn was based on an article in the Journal of Lipid Research. Jerry gave me the article because of something that is said at the end of the article.
I’m just going to read it:
“Mandel emphasizes the positive aspects of the child’s life. “He lives in a beautiful Arab village in Northern Israel in a beautiful house with his parents and sister, “she said.”
Israel is a wonderful society and a beacon of democracy in a region and a world full of dictatorships. But for me, there is nothing more beautiful about Israel than the fact that its genius and resources could be devoted to a single child, and that it makes no difference what that child’s background is. A child is a child. I wish we all felt this way.