The True Cost of Rare Disease

By Chris Smith

“Have you ever been in a situation where you feared for your life? You thought that if you could just hold on, then help would come. Now just imagine if that help never came. That is the situation for many in the rare disease community.”

These words stick in my mind as we mark another Rare Disease Day and celebrate the progress of this global advocacy movement.

I heard this analogy while leading a webinar to prepare many of the 800+ rare disease advocates who are meeting with their legislators this week. The storyteller explained the frightening symptoms she first experienced in her 20s while working as a young engineer. She described years of searching for a specialist familiar with the diagnosis and coping with the financial burdens of traveling to these specialists.

She also shared the relief of finally understanding her rare disease well enough to open a consulting business. Then, on the day she was scheduled to sign the paperwork, she was immobilized by her condition. She recovered, and few people know the effort required to function every day.

Many people living with rare diseases can relate to this experience. Until now, we lacked economic data to quantify the true economic impact of rare disease on patients, families, and society.

Thanks to the National Economic Burden of Rare Disease Study commissioned by the EveryLife Foundation and conducted by the Lewin Group, we now have data showing the total economic burden of 393 rare diseases totaled nearly $1 trillion in one year. This includes $548 billion in previous unexamined costs absorbed directly by families, such as:

  • Lost income when you miss or stop work to care for yourself or someone else,
  • The cost of modifying your home or automobile, and
  • The cost of uncovered healthcare expenses like medical foods or dental surgery.

The burden is staggering and unrelenting. It demands action. As a starting point, thousands of advocates are asking policy makers to fund rare disease programs at the National Institutes of Health, Food and Drug Administration, and Centers for Disease Control and Prevention.

Most of all, the research points to the importance of bringing effective medicines to people with rare diseases who currently have limited or no treatment. When we work together to do this, we make it possible for more people with rare disorders to achieve their full potential.

To learn more, visit or read the summary report, infographic, or news release. To hear more stories from advocates, visit Fast Forward for