February 28 is Rare Disease Day in 2023. Rare Disease Day typically occurs on the last day in February every year. The Global Genes Project estimates that over 300 million people worldwide are living with a rare disease. The World Health Organization recognizes 5500 rare diseases; National Organization for Rare Disease (NORD) recognizes over 7000 rare diseases. In the United States a rare disease is defined as a disease that impacts less than 1 in 200,000 people. Across the globe, different countries use different statistics to define what qualifies as “rare.” Globally there is an understanding that rare diseases come with a unique and universal set of challenges for patients in establishing a diagnosis and finding adequate treatment.
At one time it was estimated that moyamoya disease occurred in only 1 in 2 million people. As awareness of the disease has grown across the medical community, more patients are getting diagnosed properly. In 2022, the Lancet published a study by Dr. Ihara Msafumi that indicates “The annual incidence of moyamoya disease is 0.5 – 1.5 per 100 000 individuals in east Asian countries but as low as 0.1 per 100 000 in other regions, including North America.” Moyamoya specialists suspect the numbers are higher, but believe many patients remain undiagnosed or misdiagnosed. Despite the increase in moyamoya awareness and education initiatives over the last two decades, moyamoya disease remains rare, continues to be challenging to get a diagnosis and treatment, and frustratingly, remains incurable.
The Power of Many
Across the rare disease community, each disease presents a different set of challenges, but patient experiences can often be eerily similar. It can potentially take months to years to get diagnosed properly. Most rare diseases are incurable. Treatments options can be few and are sometimes limited to symptom management. Caretakers and patients often know more about their loved ones’ disease than some medical professionals treating them (i.e., general practitioners, primary care physicians, and anyone outside of the neuro-science field). Pharmaceutical companies are not incentivized to invest in expensive research for a population that is too small to see profitable returns.
The World Moyamoya Alliance strongly supports the rare disease initiatives of EveryLife Foundation, Rare Diseases Legislative Advocates (RDLA) and NORD’s Rare Action Network (RAN). These groups are effectively harnessing the “power of many” by pooling the passion, resources, knowledge and voices of rare disease patient advocates across the spectrum of rare diseases. Their efforts are driving critical legislation initiatives supporting new drug research and amplifying the voices of rare disease patients, caretakers and family members across the medical community.
In 2023, Rare Disease Week on Capitol Hill kicks off on February 28th and runs through March 2nd. Rare disease advocates from across the country will meet with members of congress to share their stories and advocate for legislation. While registration has closed for in person attendance, there are still opportunities to join some of the events virtually. For more information, please visit https://everylifefoundation.org/rare-advocates/rare-disease-week-agenda/
Together We Can
Imagine a world where moyamoya was curable and brain surgeries were the exception not the rule. Banding together, we can make a difference for our loved ones by collectively raising our voices. On Rare Disease Day, World Moyamoya Day and every day, share your stories; educate your neighbors, coworkers, medical professionals and politicians; get engaged with your local hospitals and medical centers; host a moyamoya awareness event; sport moyamoya awareness clothing; share an awareness post; submit an article; raise money for research; and donate if you are able.