In a story that made national headlines, a healthy 52-year-old Nebraska woman had suffered from a runny nose for years. Her symptoms began after a car accident slammed her face into the dashboard. Doctors initially diagnosed her with allergies, but typical anti-allergy treatments never seemed to help. She finally saw a specialist who tested the fluid and took X-rays. The result? The patient was leaking cerebrospinal fluid from her brain – about a half-liter per day – through a tiny hole in her skull.

Such a condition is rare, with fewer than 1,000 annual cases reported nationwide. Yet it can cause significant – even life-threatening – complications. And it’s one of many rare yet serious medical problems that can be easily overlooked.

Why rare conditions get misdiagnosed

These types of conditions are often difficult to pinpoint because:

  • They involve vague and generalized symptoms (such as headaches)
  • They mimic other, more benign conditions (such as allergies)
  • Their low prevalence means that doctors aren’t as familiar with them

In many cases, it’s only when the patient sees a specialist that the condition gets properly diagnosed. Yet general practice doctors may not have the specialized knowledge necessary to pick up on the warning signs, which means many patients dont get referrals. It’s a catch-22 that presents a recurring problem.

Dont become a victim of misdiagnosis

As a patient, you can take steps to ensure an accurate and timely diagnosis. For example:

  • Ask for a referral if you think one is warranted.
  • Don’t hesitate to seek a second opinion.
  • Follow through on all appointments and diagnostic tests.
  • If your condition doesn’t improve with treatment, return for a follow-up.
  • Ask questions.

If your primary doctor doesn’t listen to your concerns, or doesn’t seem to take your condition seriously, it might be time to find another one. Better to go through the hassle of switching doctors (or care systems) than to end up with a tragic misdiagnosis that could leave you with far worse problems.