Editor's note: Wes Michael is president and founder of Rare Patient Voice, a Towson, Md., research firm. 

In the rare-disease community, you hear a lot about zebras. Why? In medical school, students are taught, if you hear hoofbeats, think horses, not zebras. That makes logical sense. What is the most likely diagnosis? It is more likely to be a common “horse” than a rare “zebra.” But, as you hear over and over from rare patients, zebras do exist. And physicians need to be aware of when to go beyond the horse to spot the zebra. Because the longer they suspect a horse, when it really is a zebra, the longer it will take to get to the correct diagnosis. And that means a longer time without treatment.

I was recently at a rare-disease conference and a patient said, “We talk a lot about finding out about the patient journey. Please don’t call it a journey. A journey sounds like something you’d find enjoyable. Please call it an odyssey. That is more accurate. It is not a fun experience.” 

How true! What is the patient odyssey? How does it vary by disease? We set out to survey our patients and caregivers to find out their perspective. We asked patients or their caregivers about their disease, which (if, as is common, they have more than one) was most difficult to diagnose, and then, for that disease, how long it took to get diagnosed. We also asked how many medical tests they required, how many physicians they needed to see, were they misdiagnosed along the way, if they had genetic testing and if they experienced a delay in treatment. We provided the opportunity to explain in an open-ended fashion their experience. 

There are about 7,000 rare diseases. We surveyed 3,471 of our patients and caregivers across 436 different diseases. We’ll focus on totals, several instructive diseases and results from those diseases where there are 10 or more responses. The results may not be representative, as respondent...