February 28, 2017 is the 10th Annual Rare Disease Day. [http://www.rarediseaseday.org] Rare Disease Day was originally established in 2008 by EURORDIS, [http://www.eurordis.org/] the organization representing rare disease patients in Europe and now more than 80 different nations participate. In the U.S., the National Organization for Rare Disorders (NORD), [https://rarediseases.org] an non-profit, patient advocacy organization dedicated to helping individuals with rare diseases sponsors this initiative. The Rare Disease Day initiative is designed to highlight the difficulties faces by individuals and families affected by rare diseases and takes place on the last day of February every year. The goal is to raise awareness amongst the public and policy-makers about rare diseases and how these diseases impact the lives of patients and their families.
But what is a rare disease? In Europe, EURODIS defines a rare disease as any disease that affects less than 1 in 2000 people and estimates that In the United States, nearly one in ten Americans – or approximately 30 million people – live with a rare disease and nearly two-thirds of these individuals are children. The Global Genes Project [ https://globalgenes.org] estimates that worldwide some 300 million people are affected by a rare disease.
But the numbers don’t tell the whole story. Rare diseases, also known as orphan diseases, are diseases that are not commonly recognized and are underdiagnosed, and thus under researched and under treated. They are often chronic and life-threatening. Affected individuals and families speak frequently of the frustrations of trying to find appropriate medical care and information about their disease. Individuals with rare diseases often spend years on a diagnostic odyssey seeing multiple specialists and enduring numerous medical tests with limited benefit and no answers.
Genetic testing is changing this picture. Of the estimated 6000 rare diseases, it is estimated that approximately 80% have a genetic cause. With increased knowledge of genetic testing and increased group research efforts, it is now becoming more feasible to offer genetic testing to patients in hopes of putting a name on their disorder and stopping their diagnostic odyssey.
Newborn screening is an important part of the rare disease landscape. A newborn screen can mean the difference between a healthy life or one impacted by a rare disease. Diagnosing rare diseases early enables babies to start treatment which prevents the development of symptoms and avoids the diagnostic odyssey that so many families endure.
So on February 28th remember all of those affected by rare disease and that newborn screenings matters.