Imagine being riddled with concern, burdened with more questions than answers, drowning in a slue of symptoms with no diagnosis. Or, perhaps you’re one of 200,000 individuals diagnosed with a rare disease that has no cure or treatment. Where do you turn, who’s your support, and what resources are available? Rare disease patients may often struggle to find the support system they need or medical solutions and answers. For those reasons and more, Rare Disease Day was created.
Each year, the last day of February symbolizes unity and solidarity amongst rare families around the world and today marks the tenth edition of this powerful movement created as a beacon of hope and help for the rare community. Hundreds of thousands have gathered to advocate for those with rare diseases and the experiences of people living with these conditions. EGL Genetics is proud to support this cause.
Last year’s theme gave homage to the patient “voice” while this year’s theme is research. Heralding its slogan, “With research, possibilities are limitless,” the objective remains the same: to raise awareness amongst the general public and decision-makers about rare diseases and their impact on patients' lives.
Misdiagnosis in the rare disease community is challenging, with relatively similar symptoms in diverse disorders, which can hide underlying rare diseases. According to EURORDIS, a non-governmental, patient-driven alliance of patient organizations and the creators of Rare Disease Day, research is key and is vital to providing patients with the solutions they need, whether it’s treatment, cure or improved care. Shockingly, according to Global Genes, approximately 50% of rare diseases do not have a disease-specific foundation supporting or researching their rare disease and according to the Kakkis EveryLife Foundation, 95% of rare diseases don’t have a single FDA-approved drug treatment, thus the importance of this year’s research theme.
Though patient involvement has resulted in more research, there is still much work to be done, and with initiatives such as Rare Disease Day, scientific knowledge is advancing and even more quality information is becoming available. To learn more about Rare Disease Day and how to find a local event near you, click here.
Rare Disease Facts
30 million people are living with a rare disease in the US.
50% of people affected by a rare disease are children.
30% of children with rare disease will not live to see their 5th birthday.
Are you a member of the Rare Disease Community? Share your story by clicking on the image below.