To positively transform the Rare Disease diagnostic journey and reduce health inequity by strategically promoting the ICD-10 code R69 be used to denote when someone is not yet diagnosed, at the beginning of their "diagnostic odyssey."
Flagging a person as "not yet diagnosed" or some variation thereof,
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 cases where patients are still seeking meaningful diagnoses, should help connect persons on their early stages of their diagnostic odyssey connect with and/or gain access to additional resources.
Sign up to hear from us about roundtables and the formation of working groups.
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 and therefore, 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, 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.
Armed with this knowledge and with the simple idea to use the ICD-10 code R69 as an advocacy and process improvement tool, we aim to take strategic action to improve the process for those who are not yet diagnosed with a rare, or difficult to diagnose disease.
If you would like to purchase this image or another from Beverly Joubert’s collection please visit www.beverlyjoubert.com.