Cost of Rare Diseases in US? Nearly $1 Trillion in 2019, EveryLife Foundation Finds

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by Hawken Miller |

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As anyone affected by a rare disease knows, treating the illness while trying to go about everyday life is an expensive undertaking. 

But exactly how expensive — in terms of direct and indirect costs across rare disease populations — might still come as a surprise: almost $1 trillion in 2019 alone, according to an in-depth study released by the EveryLife Foundation for Rare Diseases.

The study, covering 379 rare diseases affecting 15.5 million people in the U.S., put the total economic burden for that year at $966 billion — that’s over $600 billion more than the $327 billion estimated for diabetes, which affects some 34 million Americans, in 2017.

And this is just part of the story, because those with these disorders don’t truly know “what’s our true prevalence and how big is our rare disease community,” said Julia Jenkins, the executive director of EveryLife.

The National Economic Burden of Rare Disease Study, a multi-year project supported by 15 pharmaceutical companies and prepared by consultants the Lewin Group, analyzed the cost of rare disease in three areas: direct medical costs, indirect costs as a result of productivity and other losses, and non-medical and not-covered healthcare costs.  

“We’re trying to show that even though rare diseases are individually rare, if you combine them together, they are a huge burden on society. They are a public health crisis that policymakers need to pay attention to,” Jenkins said in an interview with Bionews, the publisher of this website. 

EveryLife presented these findings during the Rare Disease Congressional Caucus Briefing on Feb. 25, ahead of Rare Disease Day.

“From my perspective, they [the results] are staggering but not surprising to us and the rare disease community,” said Annie Kennedy, chief of policy and advocacy at the EveryLife Foundation, during the briefing.

“I think these are things we’ve always known,” added Anne Pariser, director of the Office of Rare Diseases Research at the National Institutes of Health, in an interview. “But they [EveryLife] really are the first to try to document this in a qualitative, objective way.” 

Survey ‘by and for the community’

What made the study different from others was its attempt to include as much of the rare disease community as possible, rather than focusing on a single disease group. It also was unique in creating a survey to determine costs not shown through traditional Medicare, Medicaid, and private insurance claims.

That survey’s 39 questions covered topics ranging from disease severity, demographics, and caregiver profiles, to employment status, annual earnings, and disability benefits. EveryLife distributed the survey with the help of 200 partner organizations, and received 1,409 completed responses. The Lewin Group dropped 49 it found invalid, for reasons that included problems with the disease identified. 

Pariser, who was part of the project’s technical advisory group, thought the survey’s 40.4% completion rate was “quite high.” A survey is often called a success if a quarter of invitees respond, she said. 

Its inclusion was among the reasons the study covered 379 rare diseases, as opposed to the nearly 7,000 known to exist. EveryLife and the Lewin Group could only survey so many people, and identifying codes, needed to determine treatment costs, are lacking for a good number of rare diseases. 

“I don’t think anybody thought that we were ever going to have at least one patient from all 7,000 or so diseases,” Pariser said. “But I think in those almost 400 diseases, it was a very diverse collection.”

Jenkins had initially not wanted a survey, thinking rare disease patients tired of repeatedly answering them. She instead tried for a review of published literature to see what indirect costs could be gleaned for the upcoming report. 

But the team found “no literature,” Jenkins said. This was particularly true for rare diseases like Duchenne muscular dystrophy, fragile X syndromescleroderma, and Prader-Willi syndrome, the study noted.

And so the survey, designed with the help of rare disease advocates and patients, was born.

“I think what is most impactful, most exciting, is this wasn’t like an organization survey about the community,” Jenkins said. “This was a community survey … It’s for them, by them, about them.”

Rare disease cost: $966 billion for 2019

The indirect costs of these rare diseases, amounting to $548 billion of that $966 billion total economic burden, were extrapolated from this survey.

Productivity loss was the majority of these costs. Such losses came from being unemployed or in forced retirement because of a rare disease, or missing work hours or days due to healthcare needs (whether as a patient or caregiver), like arranging appointments or insurance coverage. It also included simply being less effective on the job because of treatment side effects or a sleepless night, stymying promotion or training opportunities.

Non-medical and uncovered healthcare costs, like home modifications, and transport, dietary, and special education needs, together added about $111 billion to this indirect, out-of-pocket burden.

Direct medical costs, which added up things like inpatient and outpatient care, physician visits, prescription medications, hospitalizations, and durable medical equipment, were $418 billion. 

“High medical cost is the story that underlies all of it,” Pariser said. “What do they have to endure, and their high medical and unmet medical needs is why it is so expensive.”

The group of rare diseases with the highest per capita direct medical costs was lysosomal storage diseases in both children and adults. The per-person 2019 cost for this disease area, which includes Batten, Fabry, Pompe and Sanfilippo syndromewas $132,757 for children and $54,996 for adults. 

Lysosomes, cellular structures involved in breaking down excess or worn-out cell parts, are involved in “such fundamental processes,” according to Pariser.

“When they go wrong, people are going to need a lot of help,” she said. 

The endocrine and metabolic disorders group, which includes cystic fibrosis, Cushing’s diseaseand porphyria, had the second-highest amount of per-person direct medical costs among children, again because of underlying processes. For adults, disorders of the blood and blood-forming organs, like hemophilia and sickle cell disease, came in second.

Part of Pariser’s role was in helping to categorize the varied diseases matched with those identified in the surveys, so each would be easier to analyze. Each disease is assigned an International Classification of Disease (ICD) code. The ICD, now on its 10th revision, is a standard used by healthcare professionals to track details about a patient’s condition or, in this instance, rare disease. 

“It was a question of trying to categorize this in a way that made sense, could be mapped to other systems, but also was interpretable by people using the study,” Pariser said.

Some diseases are rare enough to not have a code, making it difficult to meaningfully categorize and include them in studies. Coming out of this work, part of Jenkins’ goal for EveryLife is to get additional rare diseases into the ICD.

Another study difficulty was the limited responses from representative groups of patients. Fully 87% of respondents were white, while 4% were “multi-racial.”

Clinical studies encounter the same problem, Pariser said, recruiting patients with similar demographics. A goal of future work is to attract rare disease patient groups more in line with what the U.S. population looks like, not just racially, but also geographically, including rural and dispersed areas. 

“With rare diseases, our populations are so small anyway,” Pariser said. “If we’re missing out on important segments of the population, we just have to do better.”

Data that ‘adds power’ to patient stories

The study was a long time coming, according to Jenkins, who wanted one that would do for rare diseases what a similar study had done for Alzheimer’s: pump money into research, because the disease is too expensive not to treat.

That Alzheimer’s burden report projected costs of failing to treat 50 years into the future. The community then “came to Congress, and said they’re gonna bankrupt the system if we don’t find a cure for Alzheimer’s … and that really made investment in that disease a priority,” she said.

“That’s what we’re trying to do here,” Jenkins added. “We’re trying to show that even though rare diseases are individually rare, if you combine them together, they are a huge burden on society. They are a public health crisis that policymakers need to pay attention to.” 

While the 2019 price tag for rare diseases was no surprise to Jenkins or anyone at EveryLife, or to Pariser at the NIH, the prevalence was, Jenkins said — 15.5 million people in the U.S. with 379 diseases, when 30 million is the total estimated number of these patients, and 7,000 that of identified rare diseases.  

“We can make the assumption that the burden is actually much greater than what is highlighted in the study,” Jenkins said.

She’s also hoping that the study might influence votes on the Speeding Therapy Access Today (STAT) Act of 2021, which would establish an institute and drug advisory committee for rare diseases within the U.S. Food and Drug Administration. The bill, sponsored by a Minnesota senator, is in a Senate committee, and has yet to be referred to its counterpart in the House.   

Some details of the EveryLife study were released on Rare Disease Day, but its official publication in late spring or early summer will bring more data. And Jenkins said she’s awaiting a similar burden study by the Government Office of Accountability

The real value of determining the economic burden of rare diseases, though, is how it helps patients, Jenkins said.

No one — not elected representatives, not government officials, not workplace leaders, not school administrators, not patients’ neighbors — can ignore “real science and real evidence-driven data” pointing to a nearly $1 trillion annual cost and 15.5 million people affected, Jenkins said. 

“Look at all this data. I’m part of this big community,” she said. “We’re hoping that just really adds a lot of power to that individual patient story.”