In 2019, the EveryLife Foundation gathered information on the financial burden of rare disorders in an attempt to better understand the full extent of the societal burden of rare diseases as a whole, rather than individually. That big picture was missing, since prior studies had focused on single rare diseases, which, because they were rare, seemed to have a trivial impact on society.
All of us in the rare disorder community know that together we’re stronger, and that as a group we make up a significant percentage of the population (often cited as one in ten people in the U.S. affected by a rare disease). So it’s not entirely surprising that the results of that research, compiled in 2021 in The National Economic Burden of Rare Disease Study report confirmed that rare diseases, as a whole, have a significant impact on society. It concluded, “The estimated total economic burden of 379 [rare diseases represented in the study] with a prevalence of 15.5 million people in 2019 was $966 billion, including a direct medical cost of $418 billion and an additional $548 billion in indirect and nonmedical cost.” You’ll note that XLH is one of those 379 conditions represented in the study (under the “other metabolic conditions” category).
That’s almost a trillion dollars per year!
Usually, we think of the direct medical costs (doctor/hospital/pharmacy) when calculating the financial burden of a disease. Those costs are bad enough, with the report concluding that “an average person with [a rare disease] has an annual medical cost that is $26,887 more than a comparison person without [a rare disease].” Note that, if I read the report right, this doesn’t even include dental expenses, which we know are much higher for XLH patients than for the general population. A single root canal and crown can easily cost in excess of two thousand dollars, and it’s not uncommon for us to have more than one in a given year.
The study concluded that the direct medical costs account for only about half (43%) of the financial burden. The bulk of the direct medical costs may be absorbed by insurers (either private or Medicare/Medicaid), while the indirect costs, which account for more than half of the burden (57%) are largely borne by the patients and their families (with some of it absorbed by disability insurance, either private or through Social Security).
According to the study, the indirect costs fall primarily into three categories: absenteeism (time off for either the patient or the caregiver due to the disorder’s symptoms or while pursuing medical treatment), presenteeism (lost productivity while at work, from being unable to function at peak capacity due to the rare disease), and forced retirement (early retirement due to the rare disease).
You may look at the charts and think the numbers are either very low or very high, compared to your own experience. Remember that the study is essentially a snapshot of the costs for one particular year, as experienced by specific individuals, and would need to be repeated several times to get a more complete picture. Also, while averages can be informative, there is a lot of variability in the numbers that gave rise to the averages. In particular, as the report itself points out, “rare disease costs associated with living with a rare disease are accumulated over decades and exponentially increase the financial impact to the individual and family living with the rare disease.” In other words, a patient in their sixties is likely to have a much higher annual financial burden than one in their twenties.
If I’m reading the report right, the study missed another cost (in additional to dental expenses) that XLHers experience: lost opportunities, or the financial loss from choosing not to go into a higher-paying career because of physical limitations, which is similar to, but not quite the same as forced retirement. Over the years, I’ve heard from several XLHers who essentially chose not to go into a their preferred, usually higher-paying career because they knew they wouldn’t be physically able to do the work or continue to do it for more than a few years, potentially less time than it would take to get the necessary education/training for the career.
It’s important to acknowledge that there are other, non-economic costs that parallel the economic ones but that are all but impossible to quantify. The economic costs may have secondary effects of stress from worrying about family finances or feeling like a burden on either the family or society. Absenteeism and presenteeism don’t just cause financial losses, but can also carry with them a significant burden of stress, guilt, and anxiety. Forced retirement (or choosing not to pursue a preferred career) can adversely affect self-esteem and overall quality of life.
Even though the study didn’t fully capture all the economic costs, and didn’t even attempt to capture the more intangible psychosocial costs, there was ample evidence to support the conclusion: “The findings of this study highlight the scale of the rare disease burden and call for immediate attention from the scientific communities, policy leaders, and other key stakeholders such as health care providers and employers, to think innovatively and collectively, to identify new ways to help improve the care and treatment of rare disease. … All these steps may lead to significant societal benefit.”
I encourage you to read the study report linked above, and share it with others who may not be as aware as we are of the incredible financial burden that rare-disorder families experience throughout their lives.
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Please note that the author is a well-read patient, not a doctor, and is not offering medical or legal advice.
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