When Ben was born eight years ago, there were no signs that anything was different about him. The boy from Gettysburg, Pennsylvania, met all of his milestones in his first year and walked on his first birthday.
At 13 months, however, he had his first seizure. He started to regress developmentally, and then was having hundreds of seizures a day.
After consulting with medical teams across the country, the family finally found a diagnosis that added up: Ben was suffering from an extremely rare disease called SCN2A.
Being diagnosed with any malady or affliction obviously has its challenges. But for those suffering from very rare diseases, those challenges can be magnified by both the lack of research and the lack of support for their condition.
In Europe, for example, there are nearly 30 million people suffering from rare diseases and condition. Spurred on by this huge number and the need to raise awareness for these conditions, #RareDiseaseDay was launched in 2008 by EURORDIS (an acronym for Rare Diseases Europe), a nonprofit alliance of 837 rare-disease patient organizations.
“By connecting patients, families and patient groups,” EURORDIS notes on its website, “as well as by bringing together all stakeholders and mobilizing the rare-disease community, EURORDIS strengthens the patient voice and shapes research, policies and patient services.”
Today, #RareDiseaseDay is recognized globally, and in the U.S. is celebrated by painting faces with a #ShowYourStripes campaign. The mascot for the day in the U.S. is the zebra, which is why you’ll likely see stripes and zebras showing up on your social-media feeds today.
As for Ben, he “has a long list of diagnoses that are caused by SCN2A Disorder, including Autonomic Dysfunction, Scoliosis, Cortical Blindness and Autism. Despite all of the health challenges this little boy faces, he perseveres.”