Rare disease affects 1 in 10 Americans, 30 million people in the United States, and 350 million people globally. Over 7,000 distinct rare diseases exist and approximately 80 percent are caused by faulty genes. Whether diagnosed or unable to be diagnosed, many such patients and their families feel isolated due to lack of support, information and available medical care.

What needs to change

Despite its size, the community lacks a unified voice, as only 15 percent of rare diseases have organizations or foundations providing support or driving research. Thus, patients feel isolated, helpless, alone.

To spread rare disease awareness, build the unified voice for the rare community, and help those affected feel embraced and included, it is proposed that a different structure for foundations and programs is needed. To relieve isolation for rare disease patients we need to spark the conversation about the 7,000 diseases. Instead of just focusing on one disease population, we need to talk about all diseases and incorporate the patient voice.

“By simply talking about rare diseases, you can be an advocate for the rare disease community.”

Becoming involved

This new collaborative structure could be the what the rare disease community needs. Already, there are foundations that have successfully raised awareness while providing tools with networking opportunities, educational programs, collaborative partnership programs, summits and outreach programs connecting nonprofits, support groups and more. This provides patients, and those that love them, with much-needed hope.

By simply talking about rare diseases, you can be an advocate for the rare disease community. You can help to increase awareness about issues that affect nearly every family in the United States. You can help make rare diseases less rare — and help to relieve its feelings of heartache, hardship and isolation.