Over the Rooftops of Time: Jewish Stories, Essays, Poems

Genes, Blood, and Courage: A Boy Called Immortal Sword

Genes, Blood, and Courage A Boy Called Immortal Sword The question arises in these decades of radical change in science and medicine: Who shall tell the stories of medical quests and scientific discoveries? More often now the stories are being told by the researchers and physicians at the center of discovery. Some are told as memoirs—as with François Jacob’s The Statue Within or Salvador Luria’s A Slot Machine, A Broken Test Tube; some as medical or scientific detective stories as in The Double Helix by James Watson or Bright Air, Brilliant Fire: On the Matter of Mind by Gerald Edelman. Still others provide a view from the greater distance as in Luria’s Life—The Unfinished Experiment or Peter Medawar’s The Threat and the Glory. In a sense, David Nathan’s Genes, Blood, and Courage8 embodies each of these approaches and is a hybrid—part medical detective story, part philosophy, part human narrative, part memoir. The work sets us to ruminating about the evolution of three-and-a-half billion years of life on our planet—on natural selection and its ability to subtract, on mutation and its ability to add. As Lewis Thomas wrote in The Medusa and the Snail: “The capacity to blunder slightly is the real marvel of DNA. 1 1 7 Without this special attribute, we would still be anaerobic bacteria and there would be no music.” At the same time, this complex work is built upon a beautiful, elucidating narrative structure—the story of a child with thalassemia whose experiences we will follow through twenty-seven years of treatment, through the transforming work of molecular biology and genetics that has come to inform the practice of medicine in new and extraordinary ways today. This narrative, like the shape of the double helix—the spiral backbone of DNA—provides the structure for the scientific and ethical debates of our time. And we learn about the development of techniques that will change the face and shape of treatment for thalassemia permanently and worldwide. The book commences with an unlikely pairing: a genetic adaptation destructive of its host on the one hand, where nucleated immature red blood cells arrive in the bloodstream unable to fully oxygenate the body’s tissues, yet where the presence of the gene for thalassemia is protective of its bearer against malaria. Thus, in regions of the world where malaria is endemic, the incidence of thalassemia is disproportionately high. Thalassemia derives its name from the Greek word for sea, ␪␣␭␣␴␴␣ (Thalassa) and ␣␫␮␣ (aima), the Greek for blood, and is found in more than sixty countries, carried by those of Italian, Greek, Southeast Asian, Indian, and Chinese descent, among others. Just under ten thousand people suffer from Cooley’s anemia (the homozygous form of beta thalassemia, first described in 1925 by Dr. Thomas Cooley) in the United States, three hundred thousand worldwide. But close to two million people in the United States carry the genetic trait that can cause the disease in their children. More than fifteen years ago, in the back of a Queens bakery a few families met from time to time to offer support for one another; their children suffered from thalassemia. Nowadays, through biweekly blood transfusions and the use of a drug called Desferal infused over a twelvehour period out of every twenty-four hours to remove accumulated iron caused by the frequent transfusions, those with thalassemia live longer than in the past, though not without risk and difficulty. But let us meet the protagonist of our story. In the fall of 1968, in the pediatric hematology clinic at Children’s Hospital in Boston, David Nathan was confronted by the presence of a six-year-old boy, Dayem, who had achieved the height of a two-year-old. “His belly protruded between the buttons of his finely embroidered linen shirt, yet his elegant blue woolen shorts and matching jacket with brass buttons gave him the 1 1 8 OVER THE ROOFTOPS OF TIME appearance of a doll-like English Public School boy. His legs looked like twigs, and on his tiny feet he wore baby shoes. As he moved carefully down the long corridor of the clinic, hand in hand with his mother, I could hear his noisy breathing ten feet away.” It was the “ravishing smile” that “lit up his face” that David Nathan attended to, not the misshapen...