the elusive diagnosis

This week I heard two stories concerning protracted illnesses that went undiagnosed for months despite exhaustive work-ups by competent physicians.

One fell into the category of dysautomonia, a malfunction of the autonomic nervous system that affects the function of the cardiovascular, pulmonary, digestive, urinary, and adrenal systems. It hit a friend of mine who is a physician, herself, with such fatigue and weakness, gastrointestinal distress and weight loss, she couldn't work. The symptoms were bad enough, but the way she described it, not knowing what was wrong affected her even more. She fluctuated between frustration and fear. Between helplessness and hopelessness. Between anger and disbelief. She searched for any clue, anything that might have been missed, any glimmer of hope for a diagnosis. When she came across the condition known as "dysautomonia", she knew she'd nailed it...except that she never did discover the cause of it, and there was no cure. She learned that the condition sometimes runs its course over time for reasons no one understands. It took over a year for her.

Dysautomonia
~en.wikipedia.org~

The other case involved a healthy young man I know who suffered for months with fatigue, joint pain, headaches, and weakness. A complete work-up failed to make a diagnosis, so his doctor attributed his symptoms to some kind of flu-like illness, aggravated by the eighty hour weeks he was working. He cut back a bit, but that didn't help. Then, his blood pressure sky-rocketed. It affected his vision. Clearly, things were getting worse. He missed work. He started to worry about his job and his family. But what really scared him was the fact that his father had had hypertension and died of a ruptured aneurysm at just about his age. He went to another specialist where blood tests revealed a rare tick-borne illness (Erlichosis) that, after 6 weeks of treatment with IV antibiotics, still left him with residual pain and fatigue.

Lone Star Tick
~webmd.com~

When the best care available fails to produce a diagnosis and treatment plan, patients feel justifiably confused. Discouraged. Angry. But that's not what concerns them most. The hardest part is uncertainty and fear. What If I lose my job? How will I support my family? What if I never get better? What if I die?

This is a compelling reminder of the emotional impact of illness on the patient's story. Illness is more than a collection of symptoms, more than fever, pain, weight loss, swelling, or weakness. It penetrates every aspect of a person's life.

Rita Charon, MD, in her book "Narrative Medicine-Honoring the Stories of Illness", writes of the patient:

"...his emotional pain is intimately tied

 to his physical situation. It would be disruptive of his integrity as a self-with-a-body to pull apart those two aspects of his suffering, apportioning the discouragement and depression to the social worker and keeping the chest pain and shortness of breath for myself."

~excerpt from Chapter 9:

"Bearing Witness"~

You won't find "fear," "anger," "grief," or "despair" anywhere in the electronic medical record as signs or symptoms of dysautomonia or Erlichosis. Nevertheless, they are major contributors to the patient's presentation, clinical course, and prognosis. They are part of the patient's search for meaning, and his perspective on the self. In order to treat the whole person--body, mind, and spirit--we need to know what he is thinking and feeling. In order for him to heal, we need to know his whole story.

"It is more important to know

what sort of person has a disease

than to know

what sort of disease a person has."

~Hippocrates~

jan