Here Is a Human Being by Misha Angrist

Author:Misha Angrist [Angrist, Misha]
Language: eng
Format: epub
ISBN: 978-0-06-201046-9
Publisher: HarperCollins
Published: 2010-11-23T16:00:00+00:00

It was early December, the cusp of cold and flu season in Northern California. Hugh Rienhoff, a geneticist turned consultant, turned to his young, slight, Spider-Man-loving pixie of a daughter, Beatrice, and said, “Beazle, I really think you ought to get a flu shot.”

“No,” she said calmly. “I don’t like shots. But … if you want some of my blood for DNA, that’s no problem.”32

A few days later, Beatrice turned five, though at twenty-eight pounds she could pass for much younger.

I had met father and daughter seven months earlier at Penn Station in Baltimore, an enormous and beautiful old Beaux-Arts edifice defiantly standing over a part of Charm City that had seen much better days. I stood just outside the massive revolving doors and watched as a good-looking fiftysomething man in a dress shirt and wire-rimmed glasses carried a blond child in a bright yellow raincoat in one arm, umbrella in the other, through a cold May downpour.

Hugh had brought Bea here to see Hal Dietz, her doctor at Johns Hopkins. Hugh knew the landscape well: he came from a family of Baltimore doctors. His father, Hugh Sr., broke the line by becoming a metallurgist and wanted his son to resist medicine as well; Hugh Jr. could not. In the early 1980s he was a genetics fellow at Hopkins under the tutelage of the father of twentieth-century medical genetics, Victor McKusick.33

When Bea was born, Hugh had long since traded in his full-time clinical and lab-bench vocations for biotech entrepreneurship and business consulting. “Working as a consultant is another way of saying you’re unemployed,” he told me. His current venture was called FerroKin Biosciences, a start-up developing a treatment for iron overload in anemia patients who had undergone multiple transfusions. He had kept his medical license current and for a while did pro bono work at an HIV clinic in San Francisco; now he volunteered at the city’s Department of Public Health. But since 2004 his passion—his obsession—had been trying to figure out what was wrong with his daughter.34

When Rienhoff’s wife, Lisa Hane, was pregnant with Bea, their third child, she was forty-two and at higher risk for having a baby with a chromosomal abnormality like Down syndrome. Her chromosomes—pictures of chromosomes are a fairly crude view of one’s DNA—looked normal. Lisa’s doctor looked elsewhere: one of the common ultrasound tests obstetricians run near the end of the first trimester is a nuchal scan, which measures the amount of fluid behind the neck of the fetus. More fluid is associated with a higher likelihood of a chromosomal problem and/or heart defects.35 Bea’s scan showed a high level of fluid. At nineteen weeks the couple got an echocardiogram to look for major heart problems; the doctors did not observe anything unwarranted on the ECG.

But with Bea’s emergence from the womb came the first moment of recognition for her father. “I saw her feet,” Hugh said. “Marfan syndrome flashed through my mind.”36 Marfan syndrome is a connective tissue disorder that affects multiple organs;

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