When a Dollar Sign Becomes an Exclamation Point

Data around rare diseases has always been challenging. It has been difficult to reach agreement on the number of rare diseases or say with precision how many people suffer from these conditions. That’s a challenge that’s related to the rarity of these conditions.

Nailing down the economic burden of these conditions is doubly challenging because much of the costs of living with these diseases fall outside the direct cost of care that can be tracked through disease codes and claims databases.

While some studies have sought to do this around specific rare diseases, a new study has sought to make what it calls the most comprehensive assessment of the total cost of rare disease in the United States to date.

The National Economic Burden of Rare Disease Study released by the EveryLife Foundation for Rare Diseases finds the total costs in 2019 of rare disease in the United States was just shy of $1 trillion. The EveryLife Foundation commissioned the healthcare and human services policy analytics and consulting firm Lewin Group to calculate the economic impact of rare disease in the United States in 2019. More than a dozen pharmaceutical companies developing therapies for rare diseases funded the study.

The authors note that their calculations are conservative and cover an estimated 15.5 million people in the United States with 379 rare diseases.

The $966 billion in 2019 that they determined surpasses the economic burden estimated for many of the costliest chronic diseases, including diabetes, heart disease, and cancer, according to a new study.

“This landmark report changes the conversation about rare disease by moving from back-of-the-envelope estimates to quantifiable data that reflect the true, massive economic impact a diagnosis has on families in the U.S. rare disease community,” said Annie Kennedy, chief of policy and advocacy at the EveryLife Foundation. “Based on these data, rare diseases represent an urgent public health crisis that demands additional research, enhanced awareness, and improved access to diagnosis, care, and treatment.”

Researchers combined the prevalence of rare diseases with per-capita costs to derive the national economic burden. To estimate prevalence and the direct medical cost, the study evaluated claims data from Medicare, Medicaid, and the Optum de-identified Normative Health Information System, a large and geographically diverse claims database for the privately insured.

The study also included a primary survey designed to deepen understanding of the full spectrum of the impact of rare disease in the U.S. The survey collected detailed data on a broad set of indirect and non-medical costs of rare disease that were previously unavailable, especially the impact of rare disease on unpaid caregivers. The survey generated 1,399 fully completed responses from individuals representing about 379 rare disease communities.

Of the total, $418 billion (43 percent) represents direct medical costs. That includes such things as expenditures for inpatient hospital or outpatient care, physician visits, prescription medications, and durable medical equipment.

The $548 billion in indirect and non-medical costs includes lost productivity due to forced retirement, absenteeism, and presenteeism (when people show up to work but don’t function fully), as well as social productivity loss in community participation and volunteer work.

Also included is the cost of healthcare services not covered by insurance. This includes experimental treatments, alternative and non-traditional treatments, medical foods, and dental surgeries. Non-medical costs include paid daily care, necessary home and vehicle modifications, transportation costs, home schooling, missed schooling, and special education.  

Marissa Penrod, mother of a son with a rare disease, founder of Team Joseph, and an advisor to the study team, said the study brings to life the overwhelming and unrelenting financial, medical, and emotional challenges of living with a rare disease.

“For many families, the journey begins with the search for a diagnosis and hope for an effective treatment. It very quickly evolves into navigating a complex medical system, engaging in battles with insurance companies, and paying out-of-pocket for necessary home and vehicle modifications,” she said. “This all happens within the typical demands of a family, while trying to hold down a job and maintain some quality of life. This report should be a call to action. We can do more to help our families, and we must.”

When I was in graduate school, I attended a lecture from a well-known journalist who was talking about the impact being in Washington, D.C. can have on the perception of large numbers. He was telling the story of a Wall Street executive who took a position in government and then returned back to the world of high finance.

One day he was reading a story that involved $900 million and he was trying to remember what $900 million was. He thought for a moment before saying, “Oh yeah, 0.9.”

In policy circles where $900 million is “0.9,” $1 trillion should be able to capture some attention.

Photo: Annie Kennedy, chief of policy and advocacy at the EveryLife Foundation