What is a rare disease?
A disease or disorder is defined as “rare” in the United States when it affects less than 200,000 Americans at any given time. Over 6,000 rare diseases are characterized by a broad diversity of disorders and symptoms that vary from disease to disease as well as from patient to patient. Relatively common symptoms can hide underlying rare diseases leading to misdiagnosis and delaying treatment. Typically disabling, the patient’s quality of life is affected by the lack or loss of autonomy due to the chronic, progressive, degenerative, and frequently life-threatening aspects of the disease. The fact that there are often no existing effective cures adds to the high level of pain and suffering endured by patients and their families.
Why is this an issue?
Many people may not know about rare diseases, how common they are, and how much they impact those diagnosed. Scientific knowledge and quality information on rare diseases is seriously lacking, which may often result in a delay in diagnosis for many patients affected. This lack of appropriate, quality health care causes an abundance of difficulties in access to treatment and care which often results in significant social and financial barriers for patients. Due to the rarity and diversity of rare diseases, more research is needed to ensure that experts, researchers, and clinicians are connected and that patients can benefit from the combination of resources across borders. Spreading awareness and supporting rare diseases can go a long way in helping progress the process of helping advance the well-being and quality of life of those affected.
This information comes directly from rarediseaseday.org.
Rare Disease Day is the last day of February every year.