Rare Disease Day 2016

By Ginny A. Roth

The drawing above created by artist May Lesser depicts a medical school resident examining a child patient with rheumatoid arthritis in a hospital bed.  According to the National Organization for Rare Disorders (NORD), juvenile rheumatoid arthritis has an incidence of approximately 14 per 100,000 children per year in the United States among those aged 15 years or younger. It is one of nearly 7000 rare diseases that affect approximately 25 million people in the United States, and 400 million worldwide.

The Centers for Disease Control (CDC) defines a rare disease as a condition that affects fewer than 200,000 people.  The impacts of such diseases are felt staggeringly, not only by patients whose quality of life and life expectancy are impacted, but also by patient families, caregivers, and the medical community that strives to advance the research of rare diseases. According to the National Institutes of Health (NIH), fewer than 5% have a treatment.

In response to the growing number of individuals identified as having a rare disease, and a lack of resources and treatments to support patients and their families, Rare Disease Day was established with the purpose to raise awareness and increase advocacy for those suffering from rare diseases. The first Rare Disease Day, which takes place annually on the last day of February, was organized by EURORDIS in Europe in 2008 and held on leap day, February 29th. It was introduced in the United States by NORD in 2009. By 2015, over 80 countries were participating.

The NIH slogan for Rare Disease Day 2016, “Patients & Researchers—Partners for Life,” reflects the partnership that NIH’s National Center for Advancing Translational Sciences (NCATS) encourages in order to maximize success of rare disease research advances with programs including the Rare Diseases Clinical Research Network and Therapeutics for Rare and Neglected Diseases. This principal is also at the core of the Precision Medicine Initiative (PMI), announced by President Barack Obama in 2015, which, with NIH’s PMI Cohort Program, and through a National collaboration of physicians, researchers and patients, endeavors to develop individualized treatments for people suffering from both common and rare diseases based on their genetics, environment, and lifestyle.

portrait of Ginny outside Ginny A. Roth is the Curator of Prints & Photographs in the History of Medicine Division at the National Library of Medicine.