Rare Disease Day
Feb. 28, 2023 is globally recognized as Rare Disease Day. Out of the 336 million people in the United States, 7.4% of them are living with a rare disease, according to RareDiseases.org.
The National Organization for Rare Disorders defines a rare disease as “any disease affecting fewer than 200,000 people in the United States.” It is estimated that there are over 7,000 known rare diseases and many more that have yet to be identified. Rare Disease Day is globally celebrated on the last day of February each year to help bring awareness to the complex health conditions some people face.
According to the official Rare Disease Day website, “Since its creation in 2008, Rare Disease Day has played a critical part in building an international rare disease community that is multi-disease, global, and diverse– but united in purpose.” Rare Disease Day was started by an organization called Rare Disease Europe as a campaign to help spread awareness of rare conditions. It was only fitting that the first event was to be held on February 29, the rarest day of the year. The campaign has continued to run for a consecutive 15 years and shows no signs of slowing down any time soon. It is documented that 18 countries took part in the first event and participation has only grown as there are now over 100 countries that come together in support of this event.
As a person with several rare diseases, I will tell you that it is extremely difficult to get a diagnosis for certain conditions. According to a study conducted by BioMed Central, it can take approximately five years to receive a diagnosis, and even then, it might not be accurate. Without an accurate diagnosis, you often do not receive the care level that you need. With a lack of understanding when it comes to rare diseases, treatments can be delayed or even denied for many people.
I personally have traveled to places like Ohio and Florida to receive treatment for the conditions I have because my local medical facilities did not have the resources or knowledge to help me. When you have a rare condition, it can be difficult to find doctors who are knowledgeable about your condition. I have been to more than one doctor’s appointment where I had to explain what my conditions were to the doctor; in the beginning of my chronic illness journey, this was a common occurrence when I would go into any medical facility.
Within the rare disease spectrum, you see that there is often a lack of research performed. With this lack of research comes the scarcity of treatments. Even with the small amount of research that is being conducted, several treatments that have been found to be effective are not approved by the United States Food and Drug Administration. There are treatments that can treat conditions “off label” but are often not covered by insurances. Speaking from personal experience once again, it is not uncommon to have to fight with your insurance for life-saving medications.
Rare Disease Day is a day to celebrate your rarity and spread awareness for the thousands of identified and unidentified conditions that affect millions of people worldwide. Just because a disease is rare doesn’t mean the medical field shouldn’t care. Hopefully with increased awareness of rare diseases, we can move towards a more understanding future.
Thumbnail Photo via Wikimedia Commons
