When you're facing a changing array of debilitating physical symptoms, even the finest physician may be challenged to diagnose what's wrong. Our health care system is biased toward reacting to symptoms that demand attention and can be relieved through proper treatment. In contrast, if symptoms are recurring but in combinations the doctor doesn't recognize, he or she may be dismissive and suggest that their origin isn't physiological.
That was Val's experience, and her long search for a diagnosis reveals five important lessons for anyone who is chasing an explanation for what you believe is a real physiological problem.
Val was a bright, talented, driven and physically active teenager, eager for the adventures of young adult life. Her symptoms started in high school, with gastrointestinal issues. Her mother and grandmother had both had digestive issues, so she wasn't surprised when her primary care physician (PCP) said that she had irritable bowel syndrome (IBS). "He told me it gets worse with age and stress, and the only answer is to get used to living with it, so Pepto Bismol became my beverage of choice."
Then, in her 20s, Val's symptoms started to multiply, and controlling them on her own became increasingly difficult. Val's first important lesson emerged during that period.
1. Don't Get Locked in a Psychiatric Box
For most chronic conditions, diagnostic delays may not be life-threatening, but they are often life-altering, especially if the delays are protracted and the patient is a young adult. People whose quality of life is significantly disrupted by physical anomalies may experience emotional distress as a result of their inability to function normally. If a baffled physician faces an unfamiliar set of symptoms, can't define a physiological cause, and doubts that further testing will help to do so, he or she may imply that you're experiencing excess anxiety about your health, perhaps actually causing the physical symptoms.
Val's PCP told her to "slow down" and "get more sleep," suggesting that it might be "all in your head." She followed his recommendations, but her symptoms only got more complex. She bounced from one specialist to another for several years, being either misdiagnosed or brushed off. "It makes you reluctant to speak up when you get a flippant response from a doctor, because it belittles what you think you know about your body."
Before long, she was crying uncontrollably, not understanding why her body seemed to be in revolt. Her PCP concluded that her root problem was depression. Because Val didn't know what else could be at fault and assumed that her PCP was right, she agreed to try antidepressant medications.
She realizes now that when her physician dismissed her health concerns without continuing to seek a physiological explanation, she felt disrespected, trivialized, and powerless. She actually started to wonder if it might really all be in her head, until therapy and many different antidepressants failed to help.
That's when Val decided to assert herself differently in the diagnostic process.
2. Keep a Symptom Journal
With time, Val realized that her symptoms were so complex that she'd need to track her symptoms in detail to get doctors to take her seriously. During her early working years, Val's symptoms broadened to include fatigue, migraines, heat intolerance, dizziness, and blood pressure swings. Rarely did any one symptom seem dire, so Val wrote them off to having "a quirky body."
As time passed, she was trying to sustain a hectic career while juggling new and more alarming physical symptoms arising in unpredictable combinations. By age 29, there were days when she couldn't walk one block without resting. In desperation, she started keeping a journal.
Especially when your symptoms represent a moving target, it's important to keep good records of what's happening, how long each symptom lasts, and what are the effects on your ability to function. Also note what foods and medications you've consumed that might have triggered the symptom or caused it to recede.
Symptom patterns over time can be central to solving an apparent diagnostic mystery. Treat your symptoms like a crime scene investigation: The physician needs more than word-of-mouth to discern the pattern; he or she needs facts, and that's what a symptom journal can provide.
3. Find the Right Partners
In today's medical community, the focus is still too often on single organs or body parts rather than on full-body systems that may be throwing many body parts into turmoil. Your most critical partner will be a knowledgeable, dedicated, and holistic physician who (a) respects your knowledge of your own body and (b) thinks in untraditional ways about possible total-body-system culprits. That person can then refer you to the health care institution or center of excellence most likely to take a holistic view of your body and the kinds of conditions that might cause your multi-system disorders.
For Val, it was the hunch of an osteopath that emboldened her to consult with an endocrinologist who she was told would take her seriously despite her earlier mis-diagnosis with depression. After months of testing and a referral to an autonomic nervous system specialist, Val was finally diagnosed with both Adrenal Insufficiency and an illness called POTS.
First described in the mid-1990s, Postural Orthostatic Tachycardia Syndrome (POTS) is a malfunction of the autonomic nervous system (those automatic functions of our bodies like heart rate, blood volume and pressure, temperature control, and so on that most of us take for granted because they work without thought or deliberate intent). That's why Val experiences a severe drop in blood pressure and a radical increase in pulse rate when she stands up.
Like Val, you may find that it takes trial and error to find the right medical team, especially if your symptoms are multiple and overlap with many other conditions. Even if your condition isn't curable, coping becomes more tolerable when you know what you're facing.
4. Press Your Physician to Avoid Premature Closure
The most common cause of diagnostic error (whether a missed, misdiagnosed, or delayed diagnosis) is jumping to a diagnostic conclusion before fully considering reasonable alternatives, and thereby missing the real cause. Such premature closure errors are most common when doctors over-rely on intuitive thinking (gut feel based on their past experiences and training) and don't do enough disciplined analytical thinking (defining the other conditions that the symptoms might represent).
Physicians who want to avoid such errors will deliberately engage in slower, more deliberate, and more systematic thinking to test any initial intuitive conclusion. In doing so, they may rely on computerized decision-support tools to identify the universe of diagnosis options. Such thinking provides a sound framework (known as differential diagnosis) for dialogue with the patient and for reality testing. If the initial course of treatment doesn't alleviate the presenting symptoms, the physician can return to the drawing board for the next likely diagnostic option, and the patient's expectations can be managed accordingly.
Val's experience isn't unique, and neither is her ailment. Missed or mistaken diagnoses occur most often for relatively new and complex conditions whose symptoms present differently from one patient to another. The diagnostic challenge associated with POTS isn't that it's rare, but that medical schools have only recently begun paying attention to it.
There are many metabolic, mitochondrial, autoimmune, neuro-immune, and other "invisible," multi-system disorders that are very real for the patient but pose diagnostic challenges for physicians. It's only by listening to and trusting your recitation of symptoms (recorded in your journal) that any doctor can appreciate the full complexity of your experience; it's only by being an active medical partner that you can help the physician to help you.
5. Educate Yourself to Become an Active Diagnostic Partner
Even the most disciplined, careful, and engaged physician may not have time to do as much research as you'd like, especially in practices that are encouraged to manage their patient "throughput" (a productivity measure reflecting the number of patients handled in a given period). As a result, you'll want to do more research on your own (usually on the internet) to extend your own familiarity with the most likely diagnostic options; then share your learnings with your physician partner(s).
One particularly useful resource is an online symptom checker, which asks you to plug in multiple symptoms and then offers a range of potential causes. Such a tool and your physicians can steer you to the topics that you should learn about and the websites that are most trustworthy. In your early research stages, be careful that you don't let Internet research alarm you and that you're gathering information from top medical experts, rather than from websites that claim to be all-in-one medical information providers.
Once Val learned the broad areas that her physician partners were testing for (adrenal and autonomic nervous system disorders), she was able to find online support bulletin boards where people with similar issues share coping strategies and post the names of the medical centers where their physiological issues were further diagnosed.
Now, at age 39, after 13 years of declining health, Val experiences bouts of weakness, migraines, crushing fatigue, dizziness, diminished concentration (brain fog), abdominal pain, nausea, constipation, diarrhea, racing pulse, fluctuating blood pressure, low blood volume, shakiness, near-faints, heat intolerance, shortness of breath, and -- believe it or not -- still more.
Available treatments don't restore her ability to function normally. She can't sustain a job and never knows from one day to another whether she'll be able to get out of bed, walk her dog, or be stable enough to drive. On bad days, she's dependent on her parents for daily living tasks.
Even though Val now knows there's no cure (yet), knowing what's wrong and that it was never "all in her head" is better than living with the mystery that haunted her for years.
The Bottom Line: You don't need to be an M.D. to take charge of your own diagnosis in this way, but you do need to be patient, persistent, and knowledgeable enough to share the right information and ask the right questions of the right medical partners.
If you're like Val, half the battle is putting a name to your condition and understanding whether it's treatable and/or curable. The other half is trusting yourself as an accelerator and facilitator of the diagnostic process. By learning from Val's experience, you may be able to take charge and save yourself years of frustration and anguish.