Arndt Rolfs, MD, Chief Executive Officer of Centogene, discusses the challenges of diagnosing rare diseases.
Dr. Rolfs tells the story of his early days of practicing medicine. While on vacation, he came across an article in the newspaper on a disease he had never heard of before. He found it interesting that this disease presented with some unique symptoms. Within days of returning to practice, a young patient presented to his clinic presenting with the very symptoms he had been reading about. Although the presenting features of the disease can overlap with some more common diseases, for physicians educated on the disease it can be a straightforward diagnosis. Had he not come across the article, the patient would have probably continued his journey of misdiagnosis for a longer period of time.
This anecdote highlights the importance of educating physicians about rare diseases. Although Dr. Rolfs had come across this story in the lay press about the disease, in today’s media climate, physicians and health care providers come across information in many different medias: print, websites, social media, and e-mail.
Sometimes diagnosing a rare disease can be like finding a needle in a haystack. A common narrative shared in the rare disease community is that physicians are taught in medical school to think in general terms (i.e., if ranchers hear hoof beats, they assume that a horse is behind them and not a zebra). In most cases, when clinicians see a series of symptoms, they assume they are related to a common ailment, not a rare one. In many cases, the provider will be right in making that assumption, but after a second or third test comes back inconclusive, it is in the physician’s and patient’s best interest to assume those hoof beats may belong to something other than a horse.