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As anyone with a rare disease knows, treating the disease while trying to go about your day-to-day business is an expensive endeavor.

But the exact cost – in terms of direct and indirect costs to rare disease populations – may still be surprising: nearly $ 1 trillion in 2019 alone, according to an in-depth study published by the EveryLife Foundation for Rare Diseases.

the to study, covering 379 rare diseases affecting 15.5 million people in the United States, puts the total economic burden for this year at $ 966 billion – that’s more than $ 600 billion more than the $ 327 billion valued for diabetes, which affects some 34 million Americans, in 2017.

And that’s only part of the story, as people with these disorders don’t really know “what our true prevalence is and how big our rare disease community is,” said Julia Jenkins, Executive Director of EveryLife.

the National study on the economic burden of rare diseases, a multi-year project supported by 15 pharmaceutical laboratories and prepared by consultants on Lewin Group, analyzed the cost of rare diseases in three areas: direct medical costs, indirect costs resulting from productivity and other losses, and non-medical and unreported health costs.

“We are trying to show that even though rare diseases are individually rare, if you combine them, they are a huge burden on society. This is 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 results during the Rare Disease Congressional Caucus Briefing February 25, before Rare disease day.

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

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

Survey “by and for the community”

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

The 39 questions in this survey covered topics ranging from disease severity, demographics and caregiver profiles, 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 which they found invalid, for reasons that included problems with the identified disease.

Pariser, who was part of the project’s technical advisory group, assessed the survey’s 40.4% success rate as “quite high.” A survey is often called a success if a quarter of the guests answer it, she said.

Its inclusion was one of the reasons the study covered 379 rare diseases, up from nearly 7,000 known. EveryLife and the Lewin Group have only been able to survey a limited number of people, and the identification codes needed to determine treatment costs are lacking for many rare diseases.

“I don’t think anyone thought we would have at least one patient out of the roughly 7,000 diseases,” Pariser said. “But I think in those almost 400 diseases, it was a very diverse collection.”

Jenkins initially did not want a survey, believing that rare disease patients were tired of answering them over and over. Rather, she tried to review the published literature to see what indirect costs could be gleaned for the next report.

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

This is how the survey, designed with the help of rare disease advocates and patients, was born.

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

Cost of rare diseases: $ 966 billion for 2019

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

Lost productivity accounted for the majority of these costs. These losses came from unemployment or forced retirement due to a rare disease, or the absence of working hours or days due to health care needs (whether as a patient or caregiver), such as arranging appointments or providing insurance coverage. It also included simply being less efficient at work due to side effects of treatment or a sleepless night, hindered promotion or training opportunities.

Non-medical and uninsured health costs, such as home modifications and transportation, dietary and special education needs, together added about $ 111 billion to this indirect and out-of-pocket burden.

Direct medical costs, which totaled such items as inpatient and outpatient care, doctor visits, prescription drugs, hospitalizations and long-term medical equipment, were $ 418 billion.

“The high medical cost is the story behind it all,” Pariser said. “What do they have to endure, and their high and unmet medical needs are why it’s so expensive.”

The group of rare diseases with the highest direct medical costs per capita was lysosomal overload diseases in children as well as in adults. The cost per person in 2019 for this pathological area, which includes Latte, Fabry, Pump and Sanfilippo syndrome, was $ 132,757 for children and $ 54,996 for adults.

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

“When they’re bad people are going to need a lot of help,” she said.

The group of endocrine and metabolic disorders, which includes cystic fibrosis, Cushing’s disease, and porphyria, had the second highest amount of direct medical costs per person in children, again due to underlying processes. In adults, disorders of the blood and hematopoietic organs, such as haemophilia and sickle cell anemia, came second.

Part of Pariser’s role was to help categorize the various diseases associated with those identified in the surveys, so that each was easier to analyze. Each disease is assigned a International Classification of Diseases (CIM). The CIM, now in its 10th revision, is a standard used by healthcare professionals to track details of a patient’s condition or, in this case, a rare disease.

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

Some diseases are rare enough that they do not have a code, making it difficult to categorize them meaningfully and include them in studies. As a result of this work, part of Jenkins’ goal for EveryLife is to include additional rare diseases in CDI.

Another difficulty of the study was the limited responses of representative groups of patients. At least 87% of the respondents were white, while 4% were “multiracial”.

Clinical studies encounter the same problem, Pariser said, by recruiting patients with similar demographics. One of the goals of future work is to attract rare disease patient groups more in line with what the American population looks like, not only 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 significant 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 did for rare diseases. Alzheimer’s: inject money into research, because the disease is too expensive not to treat.

This Alzheimer’s disease burden report predicted the costs of treatment failure 50 years from now. The community “then” came to Congress and said they would bankrupt the system if we didn’t find a cure for Alzheimer’s disease … and that really made investing in Alzheimer’s disease a priority, “he said. she declared.

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

While the price of rare diseases in 2019 was no surprise to Jenkins or anyone at EveryLife, or Pariser at NIH, the prevalence was, according to Jenkins, 15.5 million people in the United States with 379 diseases, while 30 million is the total estimated number of these patients, and 7,000 that of identified rare diseases.

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

She also hopes the study could influence votes on the Accelerate the Access to Therapy Today Act (STAT) of 2021, which would establish an institute and advisory committee on drugs for rare diseases within the United States Food and Drug Administration. The bill, sponsored by a senator from Minnesota, is in a Senate commission, and has not yet been referred to its counterpart in the lodge.

Some details of the EveryLife study were released on Rare disease day, but its official publication in late spring or early summer will provide more data. And Jenkins said she was waiting for a similar burden study by the Government Accountability Office.

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

No one – not elected officials, government officials, workplace leaders, school administrators, or neighbors of patients – can ignore “real science and real evidence” pointing to a cost. nearly $ 1,000 billion annually and 15.5 million people affected, Jenkins says.

“Look at all this data. I am part of this great community, ”she said. “We hope this really adds a lot of power to this story of an individual patient.”