Rare Disease

In the United States, a condition is considered rare if it affects fewer than 200,000 people combined. Thirty million Americans – one in 10 people – suffers from a rare disease such as Batten disease.

International definitions on rare diseases vary; for example, in the United Kingdom, a disease is considered rare if it affects fewer than 50,000 people. But it is estimated that worldwide, 350 million people have a rare disease.

Having a rare disease may make you feel alone and isolated. But rare disease knows no borders or boundaries. If you consider the family and friends of rare disease patients, rare disease affects virtually everyone on the planet.

While their condition may not spend much time in the spotlight, many celebrities have a rare disease: the list includes Michael J. Fox, Phil Mickelson, Robin Roberts, Tiki Barber, Tim Howard, Venus Williams, Kristin Chenoweth, Jimmy Kimmel and Sia.

Eighty percent of rare diseases are genetic. This means patients are born with the disease, even if symptoms do not immediately appear.

Why is it so important to identify rare disease treatments?

For both humanitarian and economic reasons, finding treatments for rare diseases is a public health imperative.

Rare diseases are often chronic, with long-term consequences. Many are debilitating and require long-term medical care or other special services. Delayed or incorrect diagnoses can further shorten life expectancy and hurt quality of life.

Breakthroughs for the rare disease community can help lead to advancements for other debilitating medical conditions, from ALS (Lou Gehrig’s disease) to Alzheimer’s disease.

Rare disease: by the numbers

Although many rare diseases are uncommon to most medical professionals, as a whole they represent a serious public health imperative.

  • One in 10 Americans is living with a rare disease.
  • Worldwide, 350 million people have a rare disease.
  • If all of the people with rare diseases lived in one country, they would form the world’s third-most populous country.
  • Approximately 50% of the people affected by rare diseases are children. Of those, 30% will not live to see their fifth birthday.
  • Rare diseases are responsible for 35% of deaths in the first year of life.
  • According to the EveryLife Foundation for Rare Diseases, 95% of rare diseases do not have a single FDA-approved treatment.
  • The cost of caring for people with rare diseases runs in the billions of dollars, not counting the economic impact of patients and their caregivers who are unable to work.