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Rare Diseases

Why Diagnosing Rare Diseases Is No Simple Task

Marcus Anthony Urey, M.D.

Cardiologist, UC San Diego Health; Member, Alliance for Patient Access

One of the hardest parts of treating a rare condition is often that very first step: putting a name to your disease.

Diagnosing a rare disease is difficult for at least three reasons. First, the very nature of rare diseases is that few people are aware of them. That can include healthcare providers. Most physicians see rare diseases so infrequently that they need an extra-high level of suspicion before suggesting their patient might have one of these conditions. 

Second, getting to the right specialist can be difficult. A patient’s healthcare provider may change as the patient switches jobs or insurers, or as their health insurer’s network of covered providers changes over time. A single healthcare provider may, given time and enough data, connect the dots that point to a rare disease. That physician would then refer the patient to the appropriate medical specialist. Fragmented care, however, contributes to delays in detecting a rare disease in the first place.

Third, navigating complex healthcare systems and obtaining diagnostic tests and procedures is rife with potential barriers. Medical specialists often need very specific information, whether from a CT scan, an MRI or genetic testing, to confirm a rare disease diagnosis. But even healthcare providers with access to the technology may not be comfortable independently interpreting the results. 

In one instance, I had a new patient who had been told definitively she did not have a certain rare disease. When I reviewed her test results, I realized she had been misinformed.

Barriers to care

Many physicians also struggle to get testing for family members when rare diseases have a genetic component. This is imperative. With one rare disease I treat, called hereditary transthyretin amyloidosis, identifying the disease early on gives patients and their providers the best chance of preventing irreversible damage. Early detection can lead to improved quality of life and even extension of their lifespan. That requires testing patients’ family members before they exhibit symptoms.

Insurers sometimes balk at this idea. I’ve had to fight through multiple rejections from insurance companies to get at-risk family members the testing needed to confirm or eliminate the possibility of a hereditary disease.

Policies that improve access to diagnostics and encourage continuity of care would help tremendously. In the meantime, however, healthcare providers have become tenacious about pushing through the barriers to diagnostics. 

We know early diagnosis can lead to timely treatment, often with innovative medications whose power far exceeds that of medicine in generations past. So we keep pushing – for proper testing, for diagnosis, and for treatment that can give our patients with rare diseases the longest and best quality of life possible.

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