Invisible Illness: How to Sustain Hope?

Think about your everyday life -- how taking a run, or walking your dog on the beach, or socializing with friends are just part of a normal day. How you share daily responsibilities with others. How you set long-term goals and arrange your life to pursue them.

Then imagine never knowing each morning whether today you'll be able to do those things you take for granted, or if today you'll be unable to get out of bed. Today it might be vertigo and stomach pain. A couple of days ago, it could have been crippling fatigue and muscle pain, or almost fainting. Tomorrow or the day after, it could be a migraine, or a racing heartbeat, or severe insomnia, or all of these at once.

Imagine not knowing which symptoms will hit, and when, and never being able to plan for tomorrow, let alone for your whole future. And imagine a world in which it's extremely hard to find doctors who take seriously that your discomfort is really physiological, a world in which the right treatment for you is elusive.

That's the world of autonomic disorders, like POTS (Postural Orthostatic Tachycardia Syndrome, sometimes called simply Postural Tachycardia Syndrome) andNeurocardiogenic Syncope. In these conditions, body systems that are supposed to work automatically -- controlling your heartbeat, blood pressure, breathing, thinking, temperature, digestion, vision, and more -- don't work as they should and create a plethora of potentially disabling symptoms. This world could force you to give up your career dreams, narrowing your total focus to just getting through today. Such conditions are called "invisible" because you may not actually look sick when you are most displaced from normal living.

Diagnosis and Treatment Planning Can Take Years

Researchers and clinicians don't yet understand the causes for the wide variety of autonomic disorders, why symptoms present differently for every patient, or why each patient's condition varies so greatly from day to day. As a result, treatment for each patient focuses on managing symptoms and may involve a process of trial and error.

A prior article on this topic, "5 Things to Do When Symptoms Are Not 'All in Your Head,'" described Val's multi-year effort to figure out what was wrong with her body. She is not alone in her struggle. Clare's husband described that 18 different physicians took them through nine different diagnoses over 15 years before concluding that she too had POTS. He says it was an unpleasant process:

The treatment that Clare has received has been so degrading and appalling that when we actually found a doctor who was willing to listen to the full story and believe that there was something physically wrong, we were overjoyed. Previously, when blood work and tests kept coming back as normal, many doctors would actually ask me if she was "that fragile type of woman who gets hysterical or over-reacts." Some would ask me that right in front of her, as though she couldn't hear us or her opinion didn't matter.

Kelly's mother described another example of what that kind of interaction with a doctor looks like:

I watched Kelly evolve from being an executive powerhouse and "super Mom" to experiencing severe physical crashes that required emergency hospitalization. When five days of tests all came in as normal, the doctor in charge announced, "We can't find anything wrong with you. You have panic attacks, so I'm sending you home with anti-anxiety drugs and a recommendation to see a counselor." I tried to explain that her heart is jumping out of her body, with a sky-high heart rate one minute and a blood pressure so low that she nearly faints, and then it goes back down when she lies down. When I insisted that those symptoms were real and not psychological, he actually said, "You're not helping your daughter one bit," and stormed out of the room.

Val, Clare, and Kelly represent only the tip of the iceberg.

Patients Are Frustrated, PCPs Are Challenged

Dr. Satish R. Raj, M.D., MSCI, FACC, is a clinician, researcher, and associate professor of cardiovascular sciences at the University of Calgary and an adjunct associate professor of medicine and pharmacology at Vanderbilt University. He is one of the world's experts in the research and clinical aspects of autonomic disorders. He explained that diagnostic delays, especially at the PCP gateway, may occur because symptoms like lightheadedness, chest pains, shortness of breath, and GI upset can be caused by many other medical conditions.

"When you have vague and nebulous but real and sometimes disabling physical symptoms, like crushing fatigue," he says, "and your tests come back negative, it may be hard for a PCP to determine what's wrong. Multiple simultaneous symptoms make it difficult to predict a single course of investigation to reach a definitive diagnosis." As a result, physicians gravitate toward the more prevalent conditions first as the possible causes and look for factual data in test results to rule those in or out.

A Web-based survey implemented by Dysautonomia International in December of 2013 and released on July 11, 2014, reveals stunning statistics about the proportion of such patients who spend years trying to learn why they can no longer function "normally." Nearly 700 respondents with POTS told a shocking story:

  • Almost six years: The average time from first symptoms to diagnosis. For over 20 percent, it took more than 10 years. This didn't include time to determine (by trial and error) what treatments might relieve symptoms.
  • 83 percent: Proportion of respondents who received a psychological diagnosis before eventually being diagnosed with POTS: In fact, research has shown that POTS patients are actually less anxious than the general population.
  • 12 percent: Proportion diagnosed by a pediatrician or primary care physician.
  • 27 percent: Proportion who saw more than 10 different doctors before being diagnosed. Some 8 percent saw more than 20 doctors.

Given prevailing estimates that these conditions affect between 500,000 and 3,000,000 individuals (disproportionately young women) in the United States, perhaps these patients deserve more timely support from the medical community.