Rare disease diagnosis

zebra
There is an oft-quoted saying among physicians, “when you hear hoofbeats, think of horses, not zebras.” It’s a gentle reminder to physicians to look for the most obvious cause of a patient’s distress. However with 10 percent of the U.S. suffering some form of rare disease, we wondered if this was as true as it was in the 1950s.

We had the opportunity to speak with Sharon Moalem, MD, PhD geneticist, medical researcher, and New York Times best-selling author about how physicians can integrate rare disease diagnoses into their current practices.

When is a horse a zebra?

Right off the bat the biggest problem is a lack of training when it comes to zebras. It’s through no fault of any physician. It’s just the training. You leave out the things that are rare for things that are actionable.

The biggest key and the highest yield continue to be going back and revisiting the family history. No matter how advanced we get with genomic sequencing, we still are going to be relying on family history to see how all the variations come together in a situation and the best way to do this is always go back to the family.

What’s the best way to gather family history?

Using the standard intake form. They ask about things that run in your family and you have an opportunity to run off a list. Often though, that’s not revisited, and it’s an easy thing to do when you sit down for a yearly physician or whatnot. A lot of what has to do with your own future can be gleaned from your family who are 20 to 30 years down the road from you. From a prevention perspective that’s fantastic. A family history is a moving target, it changes every year but by revisiting that you can start putting together a medical picture of the patient.

They can fill the form out while they’re waiting for the doctor, it doesn’t take that long, it’s not going to eat up the entire visit, it’s a good way to get a snapshot. It’s really easy to do, and the PA, or whoever seeing you can quickly scan whatever you filled out.

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Popular Q&A

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Why Is Getting A Rare Disease Diagnosis So Difficult?

Getting a correct diagnosis is often a major challenge for someone who has a rare disease. Many people are unable to get a diagnosis, are misdiagnosed or have one diagnosis then another. There are many reasons why getting a rare disease diagnosis can be a long, frustrating experience.

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