Here at Patient Worthy, we chronicle the news, issues, and stories affecting people living with or impacted by rare diseases.
While the symptoms and mechanics vary from disease to disease and from person to person, there are constants that run through all patient experiences:
- Keep pushing for answers.
- Find doctors who will listen to you.
- Don’t face challenges alone.
- Work as a community to affect change.
And one more universal truth: Few people ever anticipate getting diagnosed with a rare disease.
That is where far too many slip through the cracks as they struggle to get a diagnosis to explain their strange and sometimes debilitating symptoms.
Sandra Boodman at the Washington Post has been writing about these patients in her Washington Post column for the last ten years.
In examining 100+ complex cases, she’s noticed some key themes that run throughout these patients’ stories.
Her article, “Five simple steps to avoid becoming a medical mystery,” effectively illustrates these themes and offers doctors and patients alike an essential roadmap for sleuthing out the source of unexplained symptoms.
Granted, some of the stories read like “Worst-Case Scenario Handbook” entries of what could go wrong.
I’d like to think that most doctors aren’t as thick-skulled or arrogant as the ones who insisted that a man with liver cirrhosis was lying about not having a drinking problem (he actually had a rare genetic disease that caused him to store too much iron in his body), or that the young mother with crippling back and abdominal pain was just stressed (the pain was caused by a filter that had been implanted in a major vein breaking apart, sending jagged bits and pieces poking through the vein and pressing against her small intestine).
In addition, not every mystery symptom points to a rare disease. But if just one out of a thousand unexplained symptoms turns into something serious, that’s still one life in danger…which is one life too many.
Some of you might see echoes of your own story in the examples Ms. Boodman uses to drive home her tips.
Even if you’ve already solved your “mystery diagnosis,” it’s definitely worth a read to refresh your memory on best practices for record keeping, being persistent, and trusting your gut.
Better yet, forward it along to someone struggling with their own mystery symptoms—not to panic them, but to demonstrate just how important it is to push for answers.
