According to more than 1,000 survey responses from patients, caregivers, physicians, and payors who handle reimbursements for healthcare plans and governments/institutions in the United States and United Kingdom:
* It takes more than seven years in the U.S. and five years in the U.K. for a patient with a rare disease to receive a proper diagnosis
* On the journey to diagnosis, a patient typically visits up to eight physicians (four primary care and four specialists) and receives two to three misdiagnoses
* Physicians (both primary care and specialists) often don’t have the time, resources and information to properly diagnose/manage patients with rare diseases, compared to more common diseases seen
* Due to the uncertainty, the lack of available information, resources, and economic strains, rare diseases take a major emotional toll on patients and their caregivers
Rare diseases are conditions that affect a small portion of the population, but are often chronic, progressive, degenerative, life-threatening and disabling. While individual rare diseases are uncommon and disparate, collectively there are about 7,000 different types of rare diseases and disorders that have been identified.
“The new insights featured in the Rare Disease Impact Report reinforce some of the major issues we see in the rare disease space, particularly the obstacles in getting adequate information and ongoing care,” says Nicole Boice, founder and CEO of Global Genes | RARE Project, and advisory board member for the Rare Disease Impact Report. “My hope is that these gaps identified in the report inspire the rare disease community to work together to create a better outlook for patients and their families.”
Visit to get more information and view the full Impact Report.