Facts

Facts

Why are rare diseases important? They’re rare and don’t affect many people.

For most children, the lack of a diagnosis precludes participation in support charities, but the numbers of rare or undiagnosed are staggeringly common, and their medical and emotional needs are great.

Individually, these diseases are uncommon but when we add up the numbers, 25-30 million Americans and another 30 million people in the European Union are afflicted.

It is estimated that 350 million people worldwide suffer from a rare disease. Rare disease affects more people than AIDS and cancer combined.

  • The National Institute of Health (NIH) estimates that 25 – 30 million Americans have rare diseases.  A rare disease is one that affects less than 200,000 people. 
  • It takes an average of 7.6 years, 8 physicians, and 2-3 misdiagnoses to correctly identify a rare disease.  Up to 80% of the 6,800 rare diseases are genetic in origin.
  • Every one of us carries at least 3 devastating rare disease-causing mutations, maybe more.
  • The National Organization for Rare Diseases (NORD) did a survey of individuals diagnosed with a rare disease and found that 36% remained undiagnosed for one year or longer, and 1-in-7 patients remained undiagnosed for six years or more.
  • A diagnosis can take as many as five years, and occasionally may never happen, especially with rare conditions. In addition, some experts say that between 30% to 40% of children with special needs do not have an exact diagnosis.”
  • The Texas Children’s Genetics Clinic states they are only able to diagnose about 50% of the children they see.