Bring Awareness to Rare Diseases This February
By Madeleine Kates
Often, medical professionals are taught that when they hear hoofbeats, they should look for horses, as that would be the most common explanation for the sound. However, what if the hoofbeats are coming from a zebra? Roughly three million individuals worldwide live with a rare disease. In the United States, a rare disease is defined as a condition that affects less than 200,000 people. The National Institutes of Health (NIH) puts nearly 7,000 diseases in this category.
The zebra and zebra-striped ribbon have become symbols for individuals living with rare diseases. This is because, while these diseases are not frequently seen in medical offices, they do exist, and patients face challenges in finding a provider who has significant knowledge of their condition. Familiar rare diseases include cystic fibrosis, connective tissue disorders such as Ehlers-Danlos Syndrome, certain types of anemia and cancers, and the sleep disorder narcolepsy, but there are many more you’ve likely never heard of, including Stiff Person Syndrome, which was recently featured in this publication.
The causes of rare diseases vary, but can include genetic abnormalities, injuries, or exposure to certain infections or hazardous materials. Unless a disease presents outwardly, or with very specific symptoms, patients can suffer for years into adulthood without a proper diagnosis, as symptoms may be confusing or vague.
Rare Disease Day, celebrated on February 28, is acknowledgement for those affected, of what it means to have a rare condition. The most common issue patients deal with is receiving an inaccurate diagnosis or incorrect guidance from physicians unfamiliar with signs and symptoms of these unusual conditions. Another challenge is the lack of available treatments and insurance coverage for specialized treatments or unexpected expenses.
As a patient with a rare disease, I see this month as a celebration of progress in the medical field. I view it as an opportunity to bring together small communities of patients to share in the common goal of building awareness of the need for research, and the hope of finding new treatments.
In my experience, I cannot count the number of times I’ve heard providers say things including, “You can’t have that, it’s rare.” It’s also not uncommon to hear, “I saw a paragraph about this in a medical school textbook.” There’s nothing more disturbing than watching your doctor pull up Wikipedia during an office visit, as these responses are barriers to care.
If you are diagnosed with a rare disease, don’t assume everyone knows what it is or how to treat you in a medical emergency. It is important to be an active participant in your health. Remember to bring information about your condition to all medical visits. A medical alert bracelet or tag on your wallet is an easy way to let providers and others around you know what to do in a medical emergency.
Just because a disease is rare in the population does not mean it should be forgotten, overlooked, or discounted. For more information and downloadable materials about rare diseases, visit https://rarediseases.org/rare-disease-day/
Madeleine Kates is a Senior at Niagara University studying Life Sciences, Psychology, and Environmental Science.