The last day of February is celebrated as Rare Disease Day around the world. The month of February was chosen specifically because it is a rare month, with the unique characteristic of having either 28 or 29 days. The very first Rare Disease Day was celebrated in Europe on February 29, 2008. The United States joined the effort the following year in 2009. The purpose of this day is to raise awareness within the medical and global communities and to focus on diseases that have no cure and generally remain undiagnosed.
Currently, more than 6,800 rare diseases have been identified. They range from gastrointestinal disorders, like genetic sucrase-isomaltase deficiency or sucrose intolerance – an enzyme deficiency that disrupts the digestive process – to hemophilia, a genetic bleeding disorder. Rare Disease Day aims to get the attention of policy makers, public authorities, industry representatives, researchers, health professionals, and anyone who has a true interest in rare diseases.
Rare diseases present unique challenges for both patients and their families. They face endless questions from doctors and medical personnel, only to have their issues dismissed because doctors don’t have an explanation for the symptoms or they have no experience with the disease. Families often resort to unpleasant and demanding behavior in an effort to be heard, such as interrupting medical personnel on rounds, making endless phone calls, sending long emails, questioning the experts, and not taking “no” for an answer.
Just because a doctor hasn’t heard of the disease doesn’t mean it doesn’t exist. Furthermore, not having an explanation for the symptoms or continued illness doesn’t mean there isn’t a legitimate medical condition at hand. Sometimes, a doctor’s lack of knowledge and empathy leaves everyone feeling isolated and desperate for answers and understanding.
In the United States, a disease is considered rare when it affects fewer than 200,000 people. Altogether, rare diseases affect an estimated 25 to 30 million Americans, which is more than the population of the state of Florida. Worldwide that number increases to 350 million, which is more than the population of the United States.
Individuals affected by a rare disease are forced to become their own advocates, research assistants, and diagnosticians. Spending countless hours researching and discussing their symptoms, they become the experts on their condition. Many patients walk around with binders full of their medical records and research on their condition in an effort to assist their medical teams. On the off chance a diagnosis is made, 95 percent of patients have no treatment options or cure for the disease.
Connecting with other families affected by the same or a similar condition is vital for a sense of wellbeing and community. Rare Disease Day aids in that effort by emphasizing and discussing the specific needs of this population of individuals. As families and community members begin to work together, a greater effort is made to create awareness and promote the idea that rare diseases are an important public health issue that needs attention.
NORD, the National Organization for Rare Disorders, is a valuable resource for patients and families. NORD provides a database of all current rare diseases, patient support organizations, grant program opportunities to research a rare disease, information regarding clinical trials and research studies, and information on financial assistance. Other ways to connect and share information are through social media sites, such as Facebook, Instagram, and Twitter. Be sure to search social media platforms and search engines for the hashtags associated with Rare Disease Day: #ShowYourRare #RareDiseaseDay, #RareDisease, #RareIs, #RareDiseaseAwareness.
Rare Disease Day is an opportunity for all of us to understand the challenges and hardships individuals and their families affected by rare diseases face. As one in 20 people live with a rare disease at some point in their lives, chances are you already know someone affected by a rare disease and you have no idea. Take a moment and visit rarediseaseday.org to find out about events happening in your area or other ways to raise awareness or support this cause.