What do you know about rare diseases?
Imagine you or your child, spouse or parent having serious, often painful and debilitating symptoms that professionals are challenged to accurately diagnose or effectively treat. One feels helpless and hopeless. There are so many rare diseases affecting people this way in this country. Why one might ask, is the issue of rare diseases so important when compared to other more common illnesses that besiege multitudes of people across the age span? Who is impacted and how?
Feb. 28 is Rare Diseases Day. It is celebrated annually across the world in an effort to increase awareness about this significant yet less well-known public health concern. If you are having trouble getting your symptoms diagnosed or adequately treated; this could be you. Chances are good that you or someone you love is impacted by a rare disease. Despite there being more than 7,000 rare diseases (Rare Disease Database; the National Organization for Rare Disorders/Rare Diseases-NORD) they impact 25 to 30,000 million American men, women, children and seniors; as well as more than 350 million people worldwide. Collectively, that is massive impact on quality of life and productivity. One in 10 Americans suffers with a rare disease, and half of those are children. The rarity of each individual disease makes it easy to overlook the total effect of rare diseases on individuals, families, communities, schools, and businesses, as well as on health providers, insurers and health systems. Care can be costly, frustrating, heartbreaking, and under-productive because we do not know enough about these individual rare illnesses.
The significance lies in the fact that because of their rarity, funding for research on rare diseases is limited. These illnesses are not prioritized in funding; diagnosis is difficult when knowledge gaps impact
If you are having trouble getting your symptoms diagnosed or adequately treated; this could be you.
our understanding of these lesser known illnesses, and 90 percent of the known rare diseases still do not have an FDA-approved treatment.
If you would like to learn more, visit www.rarediseases.org or google this two-minute video; 10 Things You May Not Know About Rare Diseases — YouTube (NORD, 2019)
Dr. Stephanie Paulmeno is public health promotion specialist for the Greenwich Department of Health.