Working together can improve outcomes for patients with rare diseases and promote better overall public health.
Despite their name, when considered altogether, rare diseases are not that rare. They affect 25 to 30 million Americans and have an extensive impact on public health policy and delivery. There are more than 7,000 rare diseases, including Cystic Fibrosis, Huntington’s Disease, Meningitis, Sickle Cell Anemia, Juvenile Pilocytic Astrocytoma and all pediatric cancers. In the U.S., conditions are categorized as “rare” if they each affect less than 200,000 people. Many of these diseases are serious or life-threatening; studies estimate half affect children, adolescents and young adults, and 72 percent are genetic conditions. On average, a person living with a rare disease may face health care costs between $4,000-$140,000 depending on the condition and their insurance coverage.
Given the small population of those with an individual rare disease, patients can often face barriers accessing appropriate care. Patients frequently encounter providers who know little about their condition, limited care options and high treatment costs. Additionally, receiving a correct diagnosis can take an average of