Rare Disease Day is tomorrow, February 28th. The objective of Rare Disease Day is to raise awareness about the impact of rare diseases on peoples lives. It targets not only the general public, but also policy makers, researchers, health professionals, and other people in places of power that have an ability to make change. Rare Disease Day is always on the last day of February. The first Rare Disease Day was on February 29th, as it is considered a “rare” date. However now it is on the last day of February every year, as February has a “rare” number of days compared to other months.
What is a Rare Disease?
A disorder or disease is defined as rare in the USA when it affects fewer than 200,000 Americans at any given time.
- 80% of rare diseases have been identified to originate in genetic code. The remaining 20% are the result of infections, whether that be bacterial or viral, allergies and environment, or are degenerative and proliferate. 50% of these rare diseases affect children.
Common Problems Faced
Many patients wait a long time to receive a diagnosis due to a lack of scientific knowledge and quality information on rare diseases. This can prolong pain and suffering and delay treatment that may alleviate some symptoms or pain. There are often no existing effective cures to rare diseases, which adds to the high level of pain and suffering experienced by patients and their families. Additionally, due to the lack of knowledge, there are many difficulties in accessing treatment and care, which can cause excessive social and financial burdens. Misdiagnosis is not uncommon, as there are many disorders with relatively common symptoms that can hide underlying rare diseases. Symptoms not only differ from disease to disease but also from patient to patient, adding to the difficulty of diagnosis.
Some Examples of Rare Diseases
- Hutchinson-Gilford Progeria
- Hutchinson-Gilford Progeria is a genetic condition that is characterized by the dramatic physical changes, namely rapid aging in childhood. There is no cure or established treatment procedure. Doctors mainly focus on reducing complications that arise with the condition
- Fields’ Disease
- Fields’ Disease is named after two twins from Wales, and does not have a medical name. Doctors class it as a neuromuscular disease which causes the muscles in the body to slowly deteriorate.
- Von Hippel-Lindau
- Von Hippel-Lindau is characterized by the growth of tumors in the central nervous system. The tumors are often benign, and are made of blood vessels. They are medically known as Hemangioblastomas, and can grown in the retina, brain, and spinal cord.