The knowledge and diagnosis of a rare disease can be a frightening time in anyone’s life. However, through education and through connecting to others, support – and hope – is abundant.
“When I started looking at the stats and facts about Rare Disease…that was my catalyst to say, ‘This is the largest disease community on the planet, more than all cancers and AIDS combined, 30 million people here in the US, 350 million people worldwide.’ My big question marks were, ‘Why in the heck isn’t anyone talking about it? Why aren’t we hearing about it in mainstream media? Why aren’t there more resources available for these families?’” – Nicole Boice.
Sean and Nicole agree that the diagnosis of a rare disease with no treatment or cure is awful (“It sucks,” says Sean, the wordsmith.), facing the unknown is an insurmountable challenge. However, with diagnosis, by facing the monster of a disease, you can help defeat it.
Nicole explains that the goal of her organization, Global Genes, is to provide those diagnosed with a rare disorder and their families with support and education. Often support comes, not through classes on the scientific realities of a disorder, but by the connection of different people sharing their personal hardships and successes with each other. With this in mind, many tangible actions Global Genes takes involves building connection in the rare disease community- whether by empowering activists to raise awareness about rare diseases, or building connections between organizations on a global scale.
For Rare Disease Day, February 28, Nicole offers some ways that all of us can help spread awareness: by connecting with a friend or family member with a rare disease and offering them support and information, by hosting or volunteering at a local rare disease awareness event, and even by sharing a simple message “I support #RARE” on social media. See resources and more information at globalgenes.org
Nicole closes her interview with the idea that hope is real and is a driving force in her life and in the lives of those with rare disorders.
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