The unique nature of zebra stripes holds a special meaning in the rare disease community. There is a saying often used during the training of medical professionals that when you hear hoofbeats, you should think of horses. Meaning that more common causes for ailments are statistically more likely so, as a provider, one should think with a focus on the more common diseases. Frustratingly to hundreds of millions of people, sometimes the source of those "hoofbeats" is a rare disease - a zebra!
This lovely image by Beverly Joubert was taken from a helicopter over the Makgadikgadi Salt Pans in Botswana. With the sun positioned just right in the sky, these shadows are 100% natural, truly looking like horses when the origin of the shadows are, in fact zebras. Taken using a Sony camera with a 70-400mm lens, only edited minimally to enhance what was already there, and the result is this striking image that so perfectly conveys the plight of the rare disease community being mistaken at first glance (and second and third!) for horses.
The R69 Initiative exists to address this plight.
To reduce the duration of the diagnostic odyssey for persons living with a rare disease by promoting the concept that specific medical code(s) (e.g. R69 ICD-10 code) be used by medical professionals to denote when someone is undiagnosed.
Flagging a person as "undiagnosed" can impact what resources they receive to move further toward diagnosis. For example, in Serbia, Zoja's law requires doctors to send samples out of the country when someone is undiagnosed more than 6 months.
As tools are developed and improved to proactively analyze (EHR's) to find rare disease cases, intentionally flagging undiagnosed cases in a consistent manner should help connect persons on their diagnostic odyssey with additional resources.
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