Today's media messages about diagnosing cancer pose a dilemma: Get tested to detect cancer early, but beware of false positives and make sure you're not getting over-tested.
The resulting confusion leaves many people wondering how a serious cancer could have snuck up on them or a loved one, only to be found at a stage too late to treat, control, or cure. In fact, those who learn that they are facing an advanced, unusual, or rare cancer often feel that their search for a diagnosis was a trial and error game that ended up feeling like "Russian Roulette."
Diagnostic Delays Can be Costly
Delays in the diagnosis of such cancers stem from many sources, three of which deserve deliberate action from those with unexplained physical symptoms and from their physicians:
- First, the earliest symptoms of some life-threatening cancers also accompany much more common, everyday conditions The similarity can lead some patients to brush off the symptoms and not seek medical attention. As hard to believe as it may be, other patients are sometimes even free of the "usual suspect" symptoms when an advanced cancer (whether rare or common) is found during an unrelated routine medical visit or when a cancer is identified in the absence of classic symptoms.
- Second, for many of these conditions, symptoms that do appear may present differently for different patients, so sometimes those that are unexpected or that appear simultaneously may be interpreted by physicians as coincidental or irrelevant. Some physicians have seen the other conditions so often that they feel no need to look beyond the typical. Others may try to match symptoms to types of patients: for example, discounting symptoms in children or young adults that would indicate cancer in older patients.
In addition, most physicians follow the linear diagnostic process that they learned in medical school and that insurers endorse: Seek the causes among the most common ailments (the "horses," like a cold or infection, menopause, or pulled muscle) first, before testing for more unusual ones (the rare ailments known to doctors as "zebras").
- Third, when referrals are made or additional scans or tests are ordered, there is often a "system" delay while each subsequent provider (doctor, lab, or radiology center) puts the patient in its own queue.
Eliminating these delays and ending the all-too-common game of Zebra Roulette must be a joint responsibility for both primary care physicians (PCPs) and for patients. Take the case of Tim, a healthy 42-year-old whose severe abdominal pain led to nearly a year of antibiotic treatments for what the PCP called a recurring urinary tract infection, even though that condition is unusual in men. After eight months, Tim and his wife began pressing for more rigorous testing in search of pain relief. The subsequent long series of referrals and scans eventually led to the diagnosis of a fairly common and condition that "is usually benign. The only way to repair it is ... a relatively simple surgery and not a big deal."
When Tim's surgeon opened him up, expecting to find the simple condition he had described, he discovered Mucinous (non-tumorous) Adenocarcinoma that diagnostic delays had allowed to spread throughout Tim's abdomen. Despite surgeries, repeated chemotherapy and radiation, and encouraging messages from the medical team, Tim died almost four years after his initial symptoms. The medical team's explanation that "We weren't looking for zebras" was little consolation to his widow.
Despite Best Efforts, Zebras Thrive in Our Midst
The frequency of any one rare cancer type (defined by the National Institute of Health NIH as fewer than 15 cases per 100,000 people per year) may be low, but when taken together, the total number of rare cancer cases each year is huge. A 2010 study published in the journal Public Health Reports analyzed more than 9 million adult cancers between 1995 and 2004 that had been submitted to the CINA (Cancer in North America) database by 41 state and regional cancer registries. The study found that based on the NIH definition of "rare," only 11 of 71 body sites typically tracked by these cancer registries qualify as "common." Further, its authors estimated that close to 25 percent of all reported malignancies per year are for what should be considered as rare cancers.
In my own interview research with 95 caregivers and less formal conversations with hundreds of other patients and survivors whose lives had been up-ended by a life-threatening cancer diagnosis, medical "zebras" and delayed diagnoses arose in close to 20 percent of the situations described:
- For Doug, a high school athlete, the joint and muscle pain that was for months interpreted as a sports injury turned out to be the symptoms of Ewing Sarcoma that killed him within two years.
- Jeff, who was only 13, was more fortunate. Living with chronic asthma, he also began to experience night sweats, weight loss, vomiting, and sleeping problems. It took his doctors nearly six months to determine that his additional symptoms were caused by Hodgkin's Lymphoma . Today he's cancer-free at age 20.
- Becky's treatment with two rounds of Z-Pak antibiotic for what looked like an upper respiratory infection didn't alleviate her breathing problems. When a scan led to a diagnosis of inoperable Stage III Mesothelioma, she consulted a world-renowned cancer center. After a revised Stage II diagnosis and successful removal of one lung, Becky is now a 14-year survivor of an often-fatal disease.
- Rob, a 29-year old father of two, had snoring problems that triggered two years of PCP visits, sleep studies, CPAP (continuous positive airway pressure) night-breathing therapy, ENT (ear, nose, and throat) specialist referrals. He was diagnosed with Chondroid Chordoma behind his throat and wrapped around his brain stem, a cancer so rare that only 300 a year are diagnosed nationwide. He has survived and is now doing well.
- Michael's persistent colds, sore throat, and swollen glands were interpreted as health impacts of his busy high school schedule. Six months and many specialist referrals later, he was diagnosed with metastasized Medullary Thyroid Carcinoma, a cancer so rare that even the specialist who eventually treated him had never seen it in a 17-year-old male. Although Michael's cancer is not curable, he will be living with cancer as a chronic disease and will remain in treatment for the rest of his life.
- Val's daughter experienced chest pain and terrible leg cramps, causing her physician to first attribute them to coincidence; it was only his sense of caution that caused him to order a chest MRI "just in case" and found her metastasized Melanoma.
Rare cancers or cancers that present with untraditional symptoms can be death sentences unless we and our health care providers are both cautious and persistent. The frequency of individually unique cancers is rising in light of emerging trends toward personalized medicine that relies on genetic testing and seeking specific biomarkers that reveal the presence of unusual cancers. The challenge was articulated clearly by biostatistician Donald A. Berry, Ph.D., of MD Anderson Cancer Center and Rice University. Dr. Berry has asserted that "advances in [understanding of] biomarkers defines successively rarer disease subsets. Soon every cancer patient will have an orphan disease."
Responsibility to Accelerate Zebra Hunts Is Shared
Many rare cancers travel incognito as viewed by physicians, patients, and caregivers. These include serious cancers of the blood, pancreas, stomach, kidney, ovaries, lungs (including mesothelioma), thyroid, soft tissues, and bones.
Chris Carberg, Director of Communications and Community Outreach for Mesothelioma Guide, explains that: "Doctors are often untrained to look for the less-common diagnoses. As a result, patients are forced into the tough position of battling the fears and emotions associated with their illnesses while trying to get doctors to do their jobs better."
So if potentially minor symptoms arise singly or in combination and persist or even worsen for several weeks in the face of standard and even aggressive treatments, it may be time to call for a shared zebra hunt. To do that:
- Patients and caregivers: Advocate for yourselves. Push the system. Ask more questions. Demand more discriminating tests sooner; the answer may well lie in looking for known disease biomarkers in relation to the patient's genetic make-up. Get a second pathologist or radiologist at an NCI-certified cancer center to review lab results and scans. Finally, don't stop pressing until the cause is found and an appropriate course of treatment is underway that will not only alleviate the symptoms, but will also address the underlying condition.
- Medical Providers: While no PCP can be expected to recognize every rare cancer immediately, every health care provider must recognize when the usual suspects have been exhausted. You can't treat what you can't identify, so put in place a "zebra by-pass" process to expedite multi-pronged and simultaneous testing when a patient's seemingly common symptoms defy traditional standards of care.
If the zebra hunt reveals nothing serious in the end, you and your medical team can laugh together about having run a good race for a worthy cause. If the underlying problem does turn out to be an uncommon cancer or one traveling incognito, you may be able to celebrate together a well-executed zebra hunt that saved calendar time, untold amounts of anxiety, and -- hopefully -- a life.