Friday, July 18, 2014

Fighting a One-of-a-Kind Disease - Seth Mnookin - The New Yorker

Matt Might and Cristina Casanova met in the spring of 2002, as twenty-year-old undergraduates at the Georgia Institute of Technology. Cristina was an industrial-design major with an interest in philosophy; Matt was a shy computer geek obsessed with "Star Trek." At first, Cristina took no notice of him, but the two soon became friends, and that fall they began dating. Within a year, they were married.

The couple had their first child, a son, on December 9, 2007, not long after Matt completed his Ph.D. in computer science and Cristina earned her M.B.A. They named him Bertrand, in honor of the British philosopher and mathematician Bertrand Russell. After a few blissful weeks, the new parents began to worry. Matt and Cristina described Bertrand to friends as being "jiggly"; his body appeared always to be in motion, as if he were lying on a bed of Jell-O. He also seemed to be in near-constant distress, and Matt's efforts to comfort him "just enraged him," Matt says. "I felt like a failure as a father." When the Mights raised their concerns with Bertrand's doctor, they were assured that his development was within normal variations. Not until Bertrand's six-month checkup did his pediatrician agree that there was cause for concern.

By then, Matt had a new job, as an assistant professor at the University of Utah's School of Computing. It took two months to get Bertrand on the schedule of a developmental specialist in Salt Lake City, and the first available appointment fell on the same day as a mandatory faculty retreat. That afternoon, when Matt was able to check his phone, he saw that Cristina had left several messages. "I didn't listen to them," he told me in an e-mail. "I didn't have to. The number of them told me this was really bad."

Bertrand had brain damage—or, at least, that was the diagnosis until an MRI revealed that his brain was perfectly normal. After a new round of lab work was done, Bertrand's doctors concluded that he likely had a rare, inherited movement disorder called ataxia-telangiectasia. A subsequent genetic screen ruled out that diagnosis. When Bertrand was fifteen months old, the Mights were told that urine screening suggested that he suffered from one of a suite of rare, often fatal diseases known as inborn errors of metabolism. During the next three months, additional tests ruled out most of those ailments as well.

As Matt tried to get a foothold in his new job, Cristina struggled to care for a wheelchair-bound child whose condition seemed to worsen by the day. When Bertrand was hospitalized, she would stay by his bedside, often neglecting to eat; the constant stress contributed to osteoarthritis so severe that her doctor told her she'd need to have her right knee replaced. In April of 2009, the Mights flew to Duke University, in Durham, North Carolina, to meet with a range of specialists, including a geneticist named Vandana Shashi, whose clinical practice focusses on children with birth defects, intellectual disabilities, and developmental delays. After five days of tests and consultations, the Duke team told the Mights that there was widespread damage to Bertrand's nervous system and that some of his odd behavior—wringing his hands, grinding his teeth, staring into space—was likely due to the fact that his brain appeared to be suffering from spikes of seizure-like activity.

When Bertrand was a newborn, Matt joked to friends that he would be so relaxed as a parent that he wouldn't care which technical field his son chose to pursue for his Ph.D. In May of 2009, the Mights closed Bertrand's college savings accounts so that they could use the money for medical care. That fall, Bertrand was rushed to the emergency room after suffering a series of life-threatening seizures. When the technicians tried to start an I.V., they found Bertrand's veins so scarred from months of blood draws that they were unable to insert a needle. Later that evening, when Cristina was alone with Matt, she broke down in tears. "What have we done to our child?" she said. "How many things can we put him through?" As one obscure genetic condition after another was ruled out, the Mights began to wonder whether they would ever learn the cause of their son's agony. What if Bertrand was suffering from a disorder that was not just extremely rare but entirely unknown to science?

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Monday, July 14, 2014

Why Smart People Are Dumb Patients - The Daily Beast

People who otherwise seem educated and rational continue to refuse vaccinations for their children due to a long-discredited study falsely linking vaccines to autism. They choose herbal remedies instead of well-researched medications and operations to treat serious illnesses like cancer. They flee from modern medicine to visit any other guru possible. But at what cost? What is fueling the mistrust?

Steve Jobs is a classic case in point. In Jobs' 2011 biography, author Walter Isaacson highlighted a tragic mistake fueled by hubris. Jobs could have been very fortunate; a medical exam for something else incidentally picked up an early pancreatic carcinoma. Although pancreatic cancer is usually deadly, Jobs' tumor was felt to be curable with immediate surgery. Yet this brilliant inventor, who revolutionized modern technological society, refused the recommended surgical procedure. He chose herbal treatment instead. By the time he noticed nine months later that he wasn't getting better, it was too late. His tumor had spread, and the next six years became a painful game of catch-up, one that he ultimately failed.       

Isaacson muses, with good insight, that Jobs' tendency toward "magical thinking" was what did him in. In psychology, magical thinking is a term referring to a type of primitive rationalization used by children, before maturity brings about abstract thinking. This thinking can seem innocent and endearing in children; if you will it, it will be. There is a simple optimism in the notion that anything can happen if you want it to. It's only the brick wall of logic that brings the fantasy ride to a bracing halt; adulthood teaches us that there are laws to the world around us that we, for better or worse, have to adapt to. There is no Santa Claus. The Earth isn't flat. People die. Science becomes the lens through which the adult brain peers at life; and the view isn't always pretty.        

Yet even as adults, many of us still cling to the wishfulness of childhood wonder. In some cases, it can be a magnificent and inspiring force. Not unlike the mantra of the movie Field of Dreams—build it and they will come—the power of the human imagination can be transformative. Jobs was willing to think outside the box, literally and figuratively; he combined elements of intuitive playfulness with the usually dry complexity of computer science. He made adult-level toys for the masses, because he believed in his own dreams.         

But sometimes one needs to sober up. In particular, the area of modern medicine seems particularly feared by people who otherwise employ reasonable amounts of logic to the world around them. It's perfectly normal—important, even—for people to be anxious about health and illness. Life and death are nothing to joke about. Yet the hardest thing about illness for people to face can be the lack of control, the uncertainty around one's fate. People notoriously avoid the doctor for this reason; magical thinking pops in. If no one tells you you're sick, you're not sick. So don't let the doctor tell you you're sick. Never mind that it's the doctor who can cure you.        

Say one does finally go to the doctor, gets the bad news, and then gets the doctor's recommended advice on treatment. A typical physician goes through 14 credits of tough pre-medical science and mathematics college courses, takes a difficult admissions exam, and only 5-10 percent of these hardworking candidates get accepted to medical school. After two years of intense advanced-level biology and biophysics courses (likened by many to "drinking from a fire hose") and two more years of rapid-fire clinical rotations, one enters residency for another four to seven years, and often an additional fellowship after that.      

Still, many patients fall into the rut of "noncompliance," or "nonadherence" as it has more recently been termed: the refusal, intentional or not, to follow a doctor's medical recommendations. Skipping visits, medications, lab work, and procedures.         

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