January 30, 2014

What Makes a Good Medical Mystery?


Individualized Medicine Conference

Article Originally Featured On WashingtonPost.com, written by Sandra G. Boodman

One of the most wrenching cases involved a woman whose obvious stomach problems were repeatedly brushed off — until doctors discovered she had advanced appendix cancer. One of the most memorable was a man whose six-year itching stumped two dozen specialists, a case solved by an astute young physician who kept pushing for an answer. And one of the most frustrating was a woman whose multiple health problems clearly seemed related to her faulty artificial hip, a case I had to drop because of her doctor’s stubbornness.

Seven years ago, I began writing The Post’s “Medical Mysteries” column, which each month recounts a puzzling case from the perspective of someone who was intimately involved: the patient, a parent, a spouse and sometimes the doctor who made the correct diagnosis.

While medical diagnosis may seem straightforward, the column illustrates how complicated and difficult it can be, illuminating the often opaque process by examining where and why it went awry and how easy it is for mistakes to snowball. Sometimes serendipity plays a key role, as it did when a patient’s deep tan reminded a doctor of photographs of a former president with the same unusual illness. Medical Mysteries also document the impact on families of the search for answers, a process that can take decades and involve considerable pain, anxiety and uncertainty.

Over the years, diagnoses have ranged from the prosaic — a Washington lawyer whose raging case of head lice was missed by three dermatologists — to the exotic: life-threatening conditions so rare that most doctors will never see them. Among these was a New York nurse whose daring cardiac treatment became the basis for a recent episode of the hit television series “Grey’s Anatomy.” Other Medical Mysteries cases have been featured on ABC News, “Mystery Diagnosis” and an Animal Planet show called “Monsters Inside Me.”

The column has inspired many reader questions, some of which recur perennially in online comments. The new year seems like a good time to answer some of them. Consider this an appeal as well: I’m always looking for interesting cases that meet the column’s specs.

What makes a good medical mystery?

For starters, the mystery has to have been solved — and the diagnosis must be substantiated by medical records and confirmed by a credentialed physician willing to discuss the case. Experimental treatments need to be grounded in science, as in the case of the New York nurse whose lethal heart tumor was successfully treated with medical super glue.

I regularly hear from readers or their desperate relatives seeking help for a debilitating illness that has confounded numerous doctors. I would love to hear from these patients after they have an answer, but I can’t help them find one. I’m a medical journalist, not a medical doctor, and unfortunately I can’t make referrals.

Some people are convinced they solved their mystery themselves, often by avoiding a particular substance or food they deem toxic or by ingesting megadoses of over-the-counter supplements. Others swear by treatments for which there is no scientific evidence, often provided by a specialist in alternative medicine. These cases don’t work, in part because their outcomes are impossible to prove.

To be considered for the column, patients must be willing to use their real names, submit relevant medical records or allow me access to them, and permit the doctor who made the correct diagnosis (or, if that person is unavailable, the current treating physician) to discuss details of their case. There are no age limits: I’ve written about a 6-week-old boy and an 87-year-old woman. And the problem need not be unusual; columns have focused on a teenage boy who turned out to have whooping cough, a college student who suffered for years from textbook gallbladder disease and a Fox news reporter with a common, painful eye condition.

What evidence do you use?

Medical records are a must. Some patients insist that their doctor never mentioned the diagnosis that years later turned out to be correct or failed to order a crucial test. I’ve found that records sometimes tell a different story, contradicting those assertions.

But records alone are not enough. Sometimes a doctor and patient have such different perspectives that it is impossible to proceed. One Maryland woman was convinced that the systemic ailments that had plagued her for several years were caused by her artificial hip — a flawed device that emitted metal particles and for which the manufacturer recently settled a multibillion-dollar class action suit.

Her voluminous medical records seemed to confirm the link. But her internist adamantly refused to attribute any of her problems to the device, which had been recalled by its manufacturer, and her orthopedist could not be reached. Case — unfortunately — closed.

Where do you find mysteries?

Many are submitted by patients or their relatives, others by doctors or hospitals; some stem from articles in medical journals. Regardless of the source, all require a subject who is willing to speak candidly.

Most patients say their purpose in recounting sometimes harrowing experiences is to spare others a similar ordeal; some want to shed light on a little-known disease or condition. At times there is a happy ending — treatment in the form of a drug or surgery that provides a fix — but that is far from the rule.

Jamie Fear, a former editor at the National Academy of Sciences who died in 2011 of a malignancy that had been repeatedly misdiagnosed as irritable bowel syndrome, talked about what it was like to be dismissed as a hypochondriac by skeptical doctors.

Jan Weymouth, a manager at the National Institutes of Health who died in 2012, said she was ultimately grateful for the years before doctors figured out she had an unusual form of lung cancer, news that forced her to confront a terminal illness.

And engineer Jeff Williams, whose cirrhosis was wrongly attributed to alcoholism, not a genetic disease, is on a crusade to raise awareness of hereditary hemochromatosis caused by the dangerous accumulation of iron in the blood. Williams also struggles with anger about the callous way he was treated by doctors and nurses and remains convinced that his liver might be less severely damaged had the doctors who dismissed him as a drunk followed up on the results of a telltale lab test he later discovered buried in his medical records.

What role do medical journals play?

I am especially interested in cases that advance knowledge about public-health issues, particularly controversial ones. I regularly read (okay, skim) major medical journals, which sometimes suggest possible columns.

One of the most memorable was a 2011 case report in Pediatrics about five children whose seizures and other neurological problems were believed by their parents to have been triggered by the DPT vaccine. Years later, testing revealed that they actually had a rare genetic mutation present at birth that caused a severe form of epilepsy called Dravet syndrome. The vaccine, doctors reported, had nothing to do with the seizures. Because the symptoms of Dravet typically surface at 6 months, the age at which children receive a DPT shot, the vaccine had been erroneously blamed. I contacted one of the report’s authors, who secured permission to provide the names of some affected families.

Two refused to participate, but Laura Cossolotto, who heads a group composed of families whose children have Dravet, agreed to tell the story of her daughter’s decade-long ordeal and eventual diagnosis at the Mayo Clinic. Until a genetic test revealed the errant gene, Cossolotto said she, too, had blamed the vaccine for her daughter’s life-threatening problems.

Why doesn’t The Post identify doctors or hospitals that miss diagnoses?

The column is meant to illuminate the diagnostic process, not affix blame — even when it might seem well deserved. Naming those who flubbed the case — sometimes a long list — doesn’t advance the larger story. But having the doctor who figured it out explain how he or she did so and why things might have gone wrong provides information that might be useful to readers.

In one instance a doctor who made an incorrect diagnosis based on evidence available at the time — telling parents their young son had mild cerebral palsy instead of a far more serious degenerative disorder — discussed what made her question her diagnosis and change her mind, suspecting something that was, sadly, correct. Her reasons included emotional factors, which can affect the diagnostic process in unexpected ways.

And in one unexpected twist, a respected specialist who missed a relatively easy diagnosis in one mystery was the same person who made the right call in a far more difficult case published months later.

How long does it take to track down a mystery?

Some, like the vaccine case, take months, while others, especially those proposed by a hospital’s media relations staff, typically proceed far more quickly: The patient has signed whatever release the hospital requires, the doctor has agreed to cooperate, and obtaining records is a relative snap.

Because delays are inevitable and a mix of cases — age, sex, profession and illness or condition — is essential, I juggle several cases simultaneously. After 80 columns, finding maladies that haven’t been covered or don’t echo previous cases becomes more difficult.

Why isn’t the answer revealed in the first few paragraphs?

Seriously? The name of the column is “Medical Mysteries.”

Medical Mysteries welcomes your submissions at medicalmysteries@washpost.com — but, please, no unsolved cases. Read previous columns at wapo.st/medicalmysteries.

Tags: dna test, DNA Testing, gene sequencing, genome science, genomic medicine, genomics, individualized medicine, personal genomics, personalized medicine, predictive medicine, Sandra G. Boodman, Uncategorized, Washington Post

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