Knowledge Center

Written by Samantha Holvey, Director of Workgroups & Communication

February is rare disease month and yours truly just happens to be a zebra.

A zebra?

Yes, in medical school doctors are taught when you hear hoof beats, think of horses, not zebras. In medicine, the term “zebra” is used in reference to a rare disease or condition.  Doctors are taught to assume that the simplest explanation is usually correct to avoid patients being misdiagnosed with rare illnesses.  While doctors learn to expect common conditions, “zebras” DO exist and so getting a diagnosis and treatment can be more difficult for patients with rare conditions.

What made me a zebra? I was diagnosed with Guillain-Barre Syndrome (GBS) in February 2017 and was paralyzed from the chest down + half my face. It’s a condition in which the immune system attacks the nerves, so the first signs are weakness and tingling in the hands/feet. There are fewer than 20,000 U.S. cases per year and there is no cure. Click here to learn more about GBS.

Through an incredible amount of grit, research, working out to build back my muscles, doctor appointments, and time, I have gotten to a point where I can walk, blink, and even play beach volleyball again. After 5 years of living with the residuals of GBS, I have forgotten what my body felt like before it was devastatingly attacked by itself, but the tingling in my hands and feet are a constant reminder of what I have fought my way through.

This experience has made me an advocate for other zebras. As a health IT professional there are a few goals I have for health care to help the often forgotten about zebras.

1. Interoperability – I would love to never again have to re-live the trauma of GBS because I must explain what I went through to a new doctor. I should be able to share my PHI with any doctor, anywhere I choose.
2. ICD Codes - The diagnostic odyssey to diagnose a rare disease takes time. Patients will see multiple providers, often outside of their insurance network and geographic region, and diagnosis will likely be hindered by limited diagnostic tools, misdiagnoses, and related hurdles. If a patient is fortunate to receive a diagnosis, the limitations for a rare disease diagnosis within our current coding and the International Classification of Disease (ICD) system is often a stubborn obstacle. Absent specific codes, as the EveryLife/Lewin study noted, rare disease diagnoses are either matched to codes of other similar rare conditions, which could over- or under-estimate a single condition’s prevalence estimate.
3. EHRs - Improve electronic health record (EHR) structure. Limits in EHR tools thwart efforts to extract rare disease data from simple queries. Solutions, such as including whether a patient has a diagnosed rare disease within the structured data field of a record, would improve patient care and research. Tools to facilitate and implement alerts that identify suspected cases of rare diseases with referrals to corresponding clinical experts (and researchers) to streamline diagnosis and optimize care are long overdue for the rare disease community.

My GBS diagnosis was delayed because the hospital I was admitted to didn’t have access to the lab records located literally across the street. I was misdiagnosed by four doctors within 1 week and came perilously close to death because the first hospital I was admitted to wasn’t monitoring my breathing. I am grateful to be alive today and will continue to fight for the zebras because we as a health care community must remember all our patients, even the rare ones.