Imagine a 4-year-old boy with bright blue eyes and a high-pitched voice, a boy who won’t remove his Batman mask and loves Bagel Bites so much he cuddles with a bag of them at night.
Now imagine that boy has an illness that has stymied his growth and causes him scream-session pain, an illness that creates fistulas, or tiny holes, in his intestine, causing stool to drain into his abdomen and leak out unnatural holes in the surface of his skin.
If he eats, he suffers.
You take him to the hospital. You take him again. You take him a hundred times, and each time the diagnosis is elusive. Doctors are baffled. They can see what’s happening but have no clue what’s causing it. They’ve never seen this before, not in person or in any medical journal. Nor have colleagues at conferences.
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They can’t stop the disease without understanding what’s causing the boy’s body to essentially eat itself. And they can’t understand that without penetrating a new frontier in medicine. They must map the boy’s genetic script, his DNA, and try to identify the genetic mutation causing so much intestinal chaos before it’s too late.
This is the compelling backdrop for “One in a Billion: The Story of Nic Volker and the Dawn of Genomic Medicine,” the true story of a medical mystery that pits a team of doctors and scientists against a foe threatening the life of a sometimes sweet, always innocent little boy.
Every human in this story, reported over years by Pulitzer Prize-winning journalists Mark Johnson and Kathleen Gallagher, is a protagonist.
We meet Amylynne Santiago Volker, Nic’s frustrated but brave mother, who must sacrifice life at home with her husband and older daughters to stay with Nic in the hospital. She delivers her child again and again to operating rooms, handing him off to doctors like a newborn. She never seems to lose hope, but after years of frustration, she must decide how to balance protecting the boy in the sterility of the hospital versus giving him some sense of life in the dangerous world outside. In real terms, giving him a slice of pizza could kill him, and letting him go swimming could cause a serious infection.
We meet Howard Jacob, a workaholic doctor who created some of the first genetic maps for rats and zebrafish before leaving Harvard and Massachusetts General to take a job at the Medical College of Wisconsin — or, as Jacob’s physician in chief in Boston derisively called it, “the Medical College of Where?”
What appealed to Jacob, something of a maverick doctor, about the move was the opportunity to run his own lab and to work on genetics in pediatrics at nearby Children’s Hospital of Wisconsin. While Jacob and colleague Alan Cowley didn’t have the resources of the bigger players working on the Human Genome Project in the early 2000s, they had access to patients at Children’s.
This is what led the genetic researchers to Nic, a patient there who had a “one-in-a-billion kind of case,” according to Bill Grossman, an immunologist and one of a half-dozen doctors who formed the core of Nic’s medical team. They began calling him Patient X.
When Alan Mayer took over Nic’s care, he was next in a long line of baffled doctors facing a painful fact: Nic was about to die, and Mayer couldn’t do anything about it. The helpless feeling haunted him, kept him up nights trying to find answers.
He fired an email to Jacob outlining Nic’s case and saying the boy “might benefit from a sequencing of his genome.” At that point in 2009, no papers had been published on the sequencing of a human’s genome to find a diagnosis. No one knew what it would cost. It had all been hypothetical.
This prompts a race to map the boy’s genes and identify the single misplaced chemical base among the 3.2 billion in the human genome. And to keep him alive with traditional medicine long enough for doctors to understand what’s wrong. In this way, Milwaukee and Children’s become a sort of ground zero for using genetic mapping to diagnose an illness.
With weaker characters — or weaker journalists doing the telling — this book could have been a hodgepodge of sciencespeak. The ideas are dense, the language foreign. But Johnson and Gallagher cut through the jargon and simplify the science. They thankfully make this a human story with gripping and sometimes blemished characters who all want the same thing: to save a child’s life, no matter the physical and financial cost.
“One in a Billion: The Story of Nic Volker and the Dawn of Genomic Medicine,” by Mark Johnson and Kathleen Gallagher (Simon & Schuster; 256 pages; $26)