Rare Disease Day
Rare Disease Day is observed on the last day in February, and this year it’s February 29th. This day shines a spotlight on the challenges faced by individuals living with rare diseases, as well as the challenges faced by their families and caregivers. It’s also a time to share the importance of raising awareness, fostering research, and promoting global understanding.
How did Rare Disease Day start?
This awareness day was started in Europe in 2008 by EURORDIS, the European Rare Disease Organization. NORD, the National Organization of Rare Diseases, was asked to be a partner in this initiative in 2009 to help raise awareness in the US. The events are organized on the last day of February. On Leap Years, that means rare diseases are recognized on the rarest day of the year. On this day patients, families, advocates, caregivers, researchers, and others tell their stories through media interviews, social media stories, blogs, educational activities, hosting or attending events, and more.
What is a rare disease?
A disease is considered rare when it affects fewer than 1 in 2,000 people. For example, Duchenne muscular dystrophy affects approximately 1 in 3,500 male births worldwide. About 80% of rare diseases are genetic, and 95% of them don’t have even one form of treatment that’s FDA approved. According to the National Organization for Rare Diseases, there are more than 10,000 rare diseases and Global Genes reports 400 million people globally suffering from a rare disease, and 1 in 2 patients diagnosed with a rare disease is a child. Of those children diagnosed, 3 out of 10 won’t live to see their 5th birthday.
What are some challenges faced by people affected by a rare disease?
There are a lot of challenges individuals and caregivers face. Because there is a lack of scientific knowledge and treatment options are extremely limited, many people battling these diseases are left with the only option to seek “off-label” treatments or hope to find a better alternative by traveling outside of the US. Due to the lack of research, proper diagnosis can take a long time which delays the ability to receive any kind of treatment. As the rare disease community is small and often fragmented, it can be difficult to connect with other patients making it easy to feel isolated and alone.
Is there research on rare diseases?
While there are companies out there researching rare diseases, since there are so many rare diseases and so few people are affected by each disease, many pharmaceutical companies don’t find it financially feasible to develop treatments and therapies. Regulations in various countries also make it difficult for certain types of research to be conducted. In the US, even if research is conducted and a treatment method appears to provide promise, it still needs to go through a clinical trial and receive FDA approval before it will be eligible for insurance coverage or reimbursement.
What can people do to help?
There are a number of organizations that are all working to promote advocacy and treatments that are affordable and accessible to everyone with a rare disease. During Rare Disease Day, there are thousands of events organized globally to help raise awareness. Finding an event to participate in or donating to one of these organizations is a great way to help us fight for fair healthcare for those with rare diseases.
Coming Together for a Cure is focused on helping individuals with Duchenne muscular dystrophy have the resources, support, community, and quality of life they deserve. If you would like to contribute to our mission of making stem-cell therapy accessible to all, reach out to us today or donate below.