A while back, I did some posts on applying for disability benefits (not individual legal advice, just general information), but at the time, we had no data on how many #XLH adults were receiving disability benefits, or more generally, any data on the employability picture for us. (You can see the disability benefits posts by starting with the last one here, which has links to the previous three.)
I’m pleased to see that we now have some data about the rates of employment, unemployment, underemployment and disability in the XLH community. “Association between work productivity and characteristics of adults with X-linked hypophosphatemia” is an analysis of data from Ultragenyx’s natural history study (they call it “Disease Monitoring Program,” but I loathe that terminology, because it adds confusion when it’s really just a natural history study, which is reasonably well-defined and in wide use already).
The study was established initially to answer some lingering questions by the FDA at the time of its approval of burosumab back in 2018, by gathering information from a variety of patients for ten years. Some of the patients are (or have been) on burosumab, some have not. I don’t know for sure, but it’s probably the largest and longest-lasting natural history study ever done on adults with #XLH (although possibly not for long, as other studies have geared up in the meantime outside the U.S.).
It’s worth reading the study yourself, or at least taking a look at the various charts. The bottom line, from the abstract, is: “The analysis comprised 281 subjects (75.4% female; 80.8% from USA; median age 39.2 years); 53.4% were employed full-time and 31.3% were not employed; 15.3% were receiving disability payments, 47.0% were taking burosumab at study entry. Most employed subjects were working full-time outside the home (69.9%) and in light or sedentary roles (59.6%).”
Note that in the version available to download, the supplementary tables are missing, and they purportedly show the employment/disability broken down by the patient’s ages. It doesn’t seem possible from the article as it exists without those tables to see if there’s a pattern to the age when patients become unemployed, rather than lumping all the ages together. My suspicion, but I’d need to see the data, is that our employment/disability rates while in our twenties, thirties and forties are pretty standard, and then the underemployment/disability/unemployment/retirement rates skyrocket.
One other thing the article doesn’t address, and I don’t believe the study even asks about it, is the extent to which any reduction in employment is voluntary. For instance, a fifty-five-year old may be unemployed due to any number of possibilities: they’d always been a stay-at-home homemaker (and thus considered unemployed, despite “working”), they’d been highly successful and chose to retire early, they’d been laid off in an industry that doesn’t value employees over age fifty and had difficult obtaining new employment, or they’d become disabled. I don’t believe there’s any way to separate out those options, based on the questions being asked in the study. And if the question wasn’t asked, there’s no way to use statistical analysis to provide an answer.
In addition, there are a few caveats to consider in reviewing the conclusions, and they’re mentioned in the article. In particular, the study cut off the data for analysis at the end of 2019, so as not to have the numbers skewed by temporary effects of the pandemic. There may be more people working from home today than then, just because it’s become a more widely available option. I would guess that working from home may offer flexibility that’s especially useful to anyone who has a fatigue, pain, or mobility issue, allowing patients to continue to work later in life than they would otherwise, so as a group, we would choose work-from-home at a higher rate than the general population.
There may also be some selection bias, in that this study imposes a significant burden in terms of the patient-participant’s time (which is compensated, but financial compensation doesn’t always make up for lost opportunities for the time spent on the study). As I recall (yes, I’m part of the study), the study includes on-site visits that require travel, sometimes by plane, as well as overnight hotel stays, once a year for the first three years, and every two years since then. There are also phone calls every six months, and patients need to collect a bunch of information for those calls (e.g., lists of all medications taken, dates of burosumab treatment if applicable, dates of hospitalizations/surgeries, doctors consulted, any new diagnoses). It’s not hugely burdensome, but it may mean that some patients declining to participate, because they have full-time jobs, plus family responsibilities and the demands of taking care of their own health, so they simply don’t have the time and energy to add anything else to their schedules. On the other hand, patients who are retired, unemployed, or underemployed (like me) might have more time and energy to participate in the study, skewing the data in that direction.
My gut reaction is that because of this potential selection bias, the data may somewhat over-state the rates of unemployment. It may be my own informal version of selection bias, but I was surprised to see a full one-third of patients in the study were totally unemployed (doesn’t include part-time work). That seems high, compared to what I know of the patients I’ve met over the years. But again, I don’t know the breakdown of ages, and higher rates at higher ages and more normal rates at younger ages would be consistent with my general impression from talking to lots of patients over the years.
As long as we keep in mind the possible selection bias, this study is likely to produce a large body of useful information, beyond what it has to tell us about employment challenges. I’m really looking forward to seeing what other data comes out of this study, and how it will inform additional research. When this study was set up, Ultragenyx sought input from the XLH Network, and one of the things the patient advocates pushed hard for was a commitment to make the data from this study widely available to scientific researchers who had a legitimate use for it in their own research. I’m really pleased to see that this article includes a note indicating this availability, subject of course, to a review “to determine whether requests are legitimate, relevant and meet sound scientific principles, and are within the scope of the participants informed consent.”
You may recall that I frequently talk about how I’d like to see more research within the rare bone disorder community that crosses the lines of specific disorders. The patient experience for those of us with chronic hypophosphatemia has a lot in common with, for instance, osteogenesis imperfecta (OI). I heard from someone in the OI community that they expect to have data from similar employment/disability questions about their patients, so it may be possible to do some analysis across the two conditions. Wouldn’t that be interesting? And since the XLH study data is supposed to be available to other researchers, I’d love to see a proposal from someone who could analyze the two sets of data. It would be an opportunity to look at a larger population than are usually available for rare disorders, potentially offering some insights by way of both the similarities and the differences in employment/disability between the two subpopulations.
You know the saying — we’re stronger together. And that applies not just within a narrowly defined community but within a broader one too. It’s why I encourage inclusion of chronic hypophosphatemia patients/caregivers who have a non-XLH variant, and why I think it’s important to be aware of the other rare bone disorders with similar effects on daily life.
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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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