No one wants to be a medical mystery. But it’s easy to become one.
While diagnosis might seem straightforward, the process can be surprisingly complex, strewn with cognitive land mines, logistical roadblocks and red herrings. These complexities – and wrong turns – helped create the medical mysteries I’ve profiled in a monthly column for the past decade. Their examples highlight some of the steps readers can take to avoid becoming a mystery.
There was a woman whose repeated falls and severe tremor were erroneously attributed by five doctors – one of them her husband – to rapidly worsening Parkinson’s disease, not an out-of-whack and easily remedied level of lithium, a drug that hadn’t been properly monitored.
A real estate executive underwent two unnecessary knee surgeries along with biopsies and months of expensive and useless treatments until a nurse asked a simple, clarifying question: Had he been tested for Lyme disease? (He hadn’t.)
And a financial consultant suffered months of excruciating facial pain from a condition dubbed “the suicide disease,” which caused a 30-pound weight loss and left him unable to eat or even brush his teeth. Local doctors had variously attributed his pain to a mental illness, malingering, drug-seeking behavior or a dental problem. An expert at a major teaching hospital in another state rapidly diagnosed and successfully treated him for a neurological disorder.
While some of the mysteries I’ve chronicled involved extremely rare conditions or atypical symptoms, others are the result of diagnostic errors made by doctors who prematurely settled on one answer, ignoring evidence that pointed in another direction.
Patients and their families sometimes contribute to the problem. Some fail to ask questions, or insist on sticking with a doctor who lacks expertise or interest. Others hopscotch among experts – although not necessarily in the right specialty – without consulting a primary-care doctor whose job is to make appropriate referrals and coordinate care.
Here are five suggestions for how to avoid common pitfalls, culled from the experiences of more than 115 people whose mysteries were ultimately solved.
1. Get your records
As recently as a decade ago, gathering your medical records was a major undertaking. The widespread adoption of electronic medical records has made this task easier, as have new federal guidelines issued by the Obama administration designed to expedite the process. If you don’t have Internet access, ask the doctor for a copy of your records. Medical records serve as a road map for diagnosis. Even if the jargon seems impenetrable, Google and other sites increasingly make it possible to decipher what they say. And these records may contain important clues or vital undisclosed information, as Jeff Williams learned.
When the Portland, Oregon, electronics engineer was hospitalized in January 2008 with cirrhosis of the liver and nearly lethal complications of newly diagnosed diabetes, doctors attributed his problems to alcoholism. Dismissing protests by Williams and his family that he was strictly a social drinker, they insisted that the 46-year-old must have skillfully hidden his drinking for years.
It wasn’t until 18 months later, after Williams asked for his records, that he discovered an abnormal blood test – a crucial red flag. Further testing revealed that he had hereditary hemochromatosis, a genetic disease that causes the body to absorb and store too much iron, causing organ damage. An earlier test showing a sky-high iron level had been erroneously believed to be the result – not the cause – of his problems. Once doctors had decided he was an alcoholic, they failed to investigate further.
If caught early, hemochromatosis is simple to treat: Regular blood draws reduce iron levels. But by the time Williams discovered that he had the genetic disorder, his liver had been irreparably damaged, putting him at elevated risk for liver cancer.
His discovery spared his twin sister, a nurse. Testing revealed that she also had the disorder and blood draws have kept her iron level in check.
2. Be persistent and follow up
Many patients, fearful of being thought a pest, assume that a doctor will inform them of test results or return their calls. That’s supposed to happen, but in reality medical offices are busy, sometimes disorganized, places. It is never safe to assume that no news is good news if you’re waiting for test results or that someone will call you back, as Brad Chesivoir discovered.
Early one Friday morning in January 2014, the Maryland real estate executive telephoned the office of a neurologist he had been seeing for migraine headaches to report worsening double vision and zigzag lines. He stressed that his problem was serious and that he needed to speak to the doctor. A member of the office staff assured him that the doctor would call him back. But Chesivoir’s call was never returned. Instead, he spent the weekend worrying that he might be going blind.
The following Monday morning, Chesivoir obtained an appointment with his wife’s ophthalmologist. Alarmed by what she saw during an eye exam, the doctor sent him straight to an emergency room. Doctors there discovered a large subdural hematoma: Bleeding in his brain was pressing on Chesivoir’s skull, causing headaches and visual disturbances; he never had migraines. A hard bump on his head weeks earlier had probably triggered the bleeding, which would have killed him in a matter of hours.
A neurosurgeon performed emergency surgery, which saved his life. Chesivoir has fully recovered.
3. Don’t go alone
Many people visit doctors alone, underestimating the stress and confusion that can attend appointments, especially for a complex problem. Some patients get lost in the weeds of the narrative, are unable to describe their problem cogently, or simply can’t absorb what the doctor is saying. Many are too rattled or distracted to remember crucial details.
Former journalist Bebe Bahnsen had successfully battled depression for years with talk therapy and antidepressants. In 2002 while she was living in Atlanta, a neurologist discovered a small, benign brain tumor called a meningioma. He told her it should be monitored regularly; such tumors typically must be removed if they grow and impinge on brain structures.
Bahnsen, then in her early 60s, said she doesn’t remember the doctor’s advice, only that he said it wasn’t the reason for her worsening depression, as she told a longtime, close friend.
Bahnsen, who was divorced and whose two grown children lived elsewhere, moved frequently and did not think to mention the tumor to doctors in several cities where she subsequently sought treatment; she didn’t think it was relevant to her mental health. Over the next few years, she became deeply paranoid, suicidal and appeared to be demented. She was hospitalized repeatedly and underwent electroshock treatments, to little effect.
After a suicide attempt in 2006, a doctor who was puzzled by her failure to improve ordered an MRI scan of her brain. It showed that the tumor, once the size of a peanut, had grown to the dimensions of a lime and was pressing dangerously on the part of her brain that controls speech, reasoning and emotion.
Surgery to remove it resulted in immediate, dramatic improvement in her condition, including the disappearance of her “dementia.” (The tumor recurred several years later, as sometimes happens.) Both Bahnsen and her friend say they believe that she would have been spared years of misery had her tumor been monitored regularly.
4. Come prepared
People who think nothing of spending an hour scouring the internet for the cheapest airfare or the best tacos may not exercise the same critical skills when it comes to their health. Being passive or uninformed – or both – can significantly prolong or entirely derail the diagnostic process.
John Gordon, the son and son-in-law of doctors, wishes he hadn’t been so trusting and had asked more questions of his doctors. Beginning in 2007, a series of specialists proposed, then discarded, increasingly exotic – and frightening – explanations, including cancer, for Gordon’s severe knee pain.
Gordon, president of a commercial real estate firm in the Washington area, also said he regrets not involving an internist in his quest for answers. Instead, he consulted a panoply of specialists: two orthopedists, an infectious-disease doctor, a rehabilitation medicine expert and an oncologist, each of whom considered his problem from the narrow perspective of their respective specialties.
And no one appeared to ask one of the most critical questions while formulating a diagnosis: What else could this be?
As a result, he underwent two unnecessary surgeries as well as multiple scans, tests and months of physical therapy for a problem that turned out to be Lyme arthritis. The condition develops months after the tick bite that causes Lyme disease. It is treated with an antibiotic.
One of Gordon’s doctors had actually raised the possibility of Lyme. “Nah,” Gordon recalls the doctor saying almost immediately. “They would have diagnosed that.”
It wasn’t until a nurse asked the question, more than a year after Gordon first sought treatment, that he was tested for Lyme exposure.
5. Trust your instincts
For more than eight years, doctors couldn’t find a reason for Heidi Gribble Camp’s stabbing back pain.
Some told her she was exaggerating normal aches and pains – she was then in her late 20s – or that she was stressed.
She was married to a professional baseball player who was often on the road, she had two small children and the family moved often – factors one doctor told her might be responsible for her back pain.
By the middle of 2014, Camp had lost 10 pounds in a matter of months, and the pain had migrated to her abdomen, triggering nausea. An X-ray revealed an unusual bone spur on her spine, adjacent to a filter that had been implanted in her inferior vena cava, the largest vein in the body, to prevent blood clots following a ruptured ectopic pregnancy in 2006.
In the intervening years, the filter had migrated and broken, penetrating the walls of the vein; one spiky leg was poking her small intestine, causing abdominal pain. Over the years, Camp had asked several doctors about the filter. They told her it was unrelated to her pain and did not need to be removed.
With the assistance of a radiologist friend who was alarmed by her deterioration, the X-ray galvanized Camp to push for an answer. A quick internet search turned up warnings by the Food and Drug Administration in 2010 and 2014, urging doctors to remove filters that were no longer needed. The federal agency had received more than 900 reports of severe injuries and deaths linked to the devices.
Camp decided that her life might literally depend on getting to the right specialist – an interventional radiologist with expertise in tricky removal surgery – and fast. “I was panicking,” she recalled, worried that another piece of the device might splinter and pierce her heart. She contacted experts at the University of Pennsylvania and Stanford, two of the nation’s best programs for filter extraction.
On June 18, 2014, the filter was removed in a 20-minute outpatient procedure at Penn. “It was the best day of my life,” said Camp, whose pain disappeared almost instantly. But her fury at the doctors who brushed her off lingered.
Sandra G. Boodman