Rare Disease Day is held on or around the last day of February each year.
On and around this day hundreds of patient organizations from more than 60 countries and regions worldwide are planning awareness-raising activities converging around the slogan ‘rare disorders without borders’.
On Feb. 28, 2013, patient organizations and other participants all over the world will go beyond borders for rare disorders, demonstrating solidarity by taking part in events to raise awareness and move forward policies in order to improve conditions for people living with rare diseases.
A rare disease, also referred to as an orphan disease, is any disease that affects a small percentage of the population. Many health experts consider a disease rare when it affects fewer than one in 2,000 people.
Rare diseases are frequently chronic, progressive, degenerative, and often life-threatening. Over 6,000 different rare diseases have been identified to date.
Despite their great overall number, rare disease patients are the orphans of health systems, frequently lacking access to diagnosis, treatment and the benefits of research.
One St. James resident who has experience living with a rare disease/disorder is Lee Carlson who was diagnosed with Cushing's Syndrome, which describes the signs and symptoms associated with prolonged exposure to inappropriately high levels of the hormone cortisol.
Cushing's disease refers to a pituitary-dependent cause of Cushing's syndrome: a tumor (adenoma) in the pituitary gland produces large amounts of ACTH, causing the adrenal glands to produce elevated levels of cortisol.
Carlson explained his experience with the disease, “During the summer of 1997 I had heart surgery and a double kidney operation to address the condition of Cushing's Syndrome after 5 years of failed diagnosis due to the rarity of the condition.” Carlson noted it is a very rare disease, “The type that I had was so rare that there had only been six cases recorded.
“Since then I have lived with surgical Addison's Disease and I have been a national director for the Cushings Support and Research Foundation for the last several years.
“A big part of Rare Disease Day is to try and get the word out and increase awareness for the diseases and the patients and families affected by them. Since they are rare, oftentimes there is very little support or awareness.”