Show Your Rare!

Most people encounter some type of disease at some point in their lifetime, whether chronic or acute. Some diseases are more common than others, affecting numerous age groups, lifestyles, and ethnicities, while other diseases are rare and found only in every couple of thousand of individuals. Rare disease, sometimes referred to as orphan disease, affects about 30 million Americans, or 1 in 10 of us. There are about 7,000 rare diseases and disorders. According to the Rare Disease Day U.S. website, “People with rare diseases have tremendous unmet needs, including misdiagnosis, a long time to finally receive a correct diagnosis, and when they do, 95% have no treatment with zero cures.” In order to increase awareness of individuals with rare diseases throughout the general public, Rare Disease Day, or Rare Day, occurs each year on the last day of February. This year’s Rare Disease Day is Wednesday February 28th, 2018.

Each year, Rare Disease Day has a global theme. In past years the themes have included focusing on patient voice, living with a rare disease, care, solidarity, and rare diseases as a public health priority, to name a few. Continuing with last year’s theme, this year focuses on research. Rare disease research advances the development of diagnostic tools, treatments and cures, as well as improves health and social care for patients and their families. In order for research to be impactful for individuals with rare disease, research cannot be one-sided. As much as the patient community needs researchers, researchers also need patients and “rely upon their participation to ensure research is meaningful. Rare disease research is not done for the sake of creating knowledge; the knowledge generated is only useful if it is translated into real benefits for patients.”, according to the Rare Disease Day U.S. website.

Become a part of the global call on policy makers, researchers, companies and healthcare professionals to increase more effective patient contribution to rare disease research. You can make a difference in a number of ways! To receive news and updates or to start planning an event, visit:

https://visitor.r20.constantcontact.com/manage/optin?v=00170F5HSfSG1rUMMDin8wYvlfJ3XrOytPNO8zyt0GNeoGtFpJ5UvqMPIcJxQwViRjG3e0SP-9xTdnM0rk772GJYAIZLhVYMaaomxGqBX94XEY%3D

You can also show your support by joining the global social media campaign. Paint your face on February 28th and post on social media with the hashtags, #ShowYourRare, #MyRare, or #RareDiseaseDay.

Alena Faulkner is a genetic counseling graduate student at the University of South Carolina Genetic Counseling Program.

Find a genetic counselor at Palmetto Health USC Genetic Counseling or feel free to contact us at 803-545-5775 or genetics@uscmed.sc.edu.We look forward to serving you!