First, I’m taking a two-month hiatus this year, partly to deal with some burnout issues and partly to spend any available XLH-related time on the two projects I mentioned at the beginning of the year (guidance for primary care providers and information on aging with XLH). This is the last post until September.
Second, I wanted to leave on a hopeful note for you to carry with you while I’m on hiatus. I’ve noticed a trend recently whereby patient groups and researchers are looking across the individual rare bone disorder boundaries to address the issues we share. Perhaps the best example is this recent article on transition care (helping kids move from pediatric to adult care) for patients with a variety of rare bone disorders (RBDs), “Transition Care for Young People with Rare Bone and Mineral Conditions: A Scoping Review.” Instead of looking ONLY at XLH or OI (the two most common RBDs) or any of the other even rarer RBDs, the researchers looked at all of them.
The ultimate conclusion is not particularly upbeat: “Existing evidence, though limited, is remarkably consistent in highlighting dissatisfaction with current transition processes, limited adult-care expertise, and substantial unmet psychosocial and vocational needs.” But I’m hopeful about the way researchers are seeing the value in recognizing that the transition issues are largely the same across all of the rare bone disorders. Note that this article is secondary in nature (a review of primary research, rather than doing that primary research itself), establishing that there is value in doing additional primary, direct research on transition issues across the rare bone disorders. It’s likely to be easier to get funding and sufficient participation for studies across rare disorders, rather than within a single disorder. And it’s always possible that additional primary research could find some differences when comparing transition across the disorders, differences that would not be noticed if the disorders were not being studied together. I also think that a single set of recommendations for transition in all of the rare bone disorders would increase the chances that the recommendations will be accessible and useful for clinicians and patients alike. Clinicians won’t have to wonder if the advice for the somewhat more common disorders, which do get studied, also applies to the disorders that are ultra-rare and therefore aren’t studied. And patients won’t be feeling overwhelmed by the multiplicity of recommendations that may or may not apply to them.
The transition article isn’t the only one looking at the commonalities among RBDs, which go beyond the transition issues. Check out “Clinical decision-making in rare bone diseases – A survey among members of the European Paediatric Orthopaedic Society (EPOS) and the European Reference Network on Rare Bone Diseases (ERN BOND).” Or “Methodological considerations and clinical implications of pain assessment in rare bone diseases.” I’m sure there are more, but these are the ones that came to my attention recently, suggesting a trend in recognizing the commonalities.
The one challenge I can envision for research across a group of conditions is that it may complicate the process of looking up the research in search engines. When I put “rare bone disease” into the search box at pubmed, I mostly get single-condition research. If I make it plural, I do get more of the multiple-condition research, but I’m not sure that a clinician would think to use either of those terms, rather than the name of the individual condition their patient has. It will be important for researchers to include as many of the individual disorder names in their keywords to be sure to reach the broader audience, so their work doesn’t get overlooked.
Meanwhile, patient advocacy groups are also starting to work across the boundaries of individual rare bone disorders, which I think will be good for everyone. We have at least as much in common when it comes to daily lived experiences as we have differences, so we can learn from each other and work together to advocate for the support we need for those shared experiences. We’ve said for a long time that patients (and caregivers) are stronger together, but it’s only in the last few years that I’ve seen patient advocacy groups apply that axiom to related disorders instead of wearing blinders that don’t let them see beyond their narrowly defined disorder.
There’s long been a Rare Bone Disease Alliance in the U.S., which does some continuing medical education events, but there’s room for much more combined advocacy here. The XLH community in Europe is increasingly working with the OI community (and vice versa), but you’ll have to trust me on this, because it’s mostly behind the scenes, and I can’t find a link to share with you (although I could swear I recall a public announcement somewhere, and I don’t think I’m hallucinating like AI does).
We still need individual-disorder research into the specific biochemistry that will lead to cures, but we also need more combined research and advocacy about the quality-of-life issues that are common to all of the rare bone disorders. I’m hopeful that researchers and patient advocates are finally recognizing the value of collaboration, and that we’ll see great benefits from the collaborations as we grow stronger together.
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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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