#DidYouKnow Rare Diseases Aren’t as Rare as they Seem

Jan 31, 2018

Why is the last day of February such a critical day in the life sciences industry? It’s Rare Disease Day, a day to call attention to the public health issues associated with rare diseases, which affect nearly 30 million Americans and millions more around the globe. It’s a single day to consider the progress we’ve made in treating some of these devastating diseases, and most importantly, how much work must be done to address the total population living with a rare disease, and to shorten their road to diagnosis and treatment.

In the U.S., a disease is defined as rare when it affects fewer than 200,000 Americans at any given time. But with approximately 7,000 rare diseases worldwide, almost 5% of the world population, an estimated 350 million people, are living with a rare condition. The most alarming statistic? 95% of rare diseases do not have one single FDA approved drug treatment.

Did you know?

  • 50% of rare diseases typically occur in children
  • 30% of children with rare disease will not live to see their 5th birthday
  • It can take on average 5 years (and sometimes much longer) before a person with a rare disease receives the right diagnosis
  • Approximately 40% of rare disease patients are misdiagnosed more than once or diagnosis is delayed for a variety of reasons
  • 80% of rare diseases are genetic in origin, and thus are present throughout a person’s life, even if symptoms do not immediately appear


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