Are there any children or adolescents or young adults with #XLH in your household or extended family? If you celebrate Thanksgiving, will you be seeing any of these XLHers for the holiday? Or for some other holiday in the near future? If so, here’s something to share with them: “Healthcare Transition from Pediatric- to Adult-Focused Care in X-Linked Hypophosphatemia: Review and Expert Consensus.”
Yeah, I know it doesn’t sound like a scintillating topic, and no one’s ever going to make a movie or tv show out of it, and maybe you don’t usually discuss XLH on holidays, but I encourage you to do it anyway. The article is so, so good, and you can download it as a PDF to read the whole thing or print it to give to the child/adolescent’s health care provider.
Most important reasons why I love this article: 1. the useful chart on information pediatric patients should know to be able to communicate to their adult health care providers (I love seeing specific advice, not general “make sure the kid can explain their health issues” type of advice); and 2 the information on the challenges we share with other rare disorders (including lack of clinicians willing/able to treat us as adults) is new to me, not something I’ve seen elsewhere, so it’s good food for thought (appropriate for a foodie holiday).
And beyond the substantive goodness of the article, I love the care they took with their words, like not conflating XLH with rickets in a shorthand description of the disorder. But what really captured my heart — this may be the first time I’ve seen this in any journal article, but it’s long overdue — is that when they listed the options for treatment, they started with what is most recent and is really the state of the art, burosumab, instead of leading with the old, ineffective phos/calcitriol! Sort of like, once phos/calcitriol became a treatment, no one would have listed mega-doses of vitamin D (the old, “conventional” but wrong treatment) first, and added the better treatment as an also-ran. (At least, I hope no one did that, and if they did … yeah, shaking my head in despair.)
The ordering of the treatment options is a subtle change in the discussion, but an important one. By listing the old treatment first and calling it “conventional” (I’d like to see that change too, but one step at a time is acceptable), and then saying, “oh, yeah, there’s also a novel treatment,” gives the impression, intended or not, that the old treatment is better or at least fully effective, and that only people who like taking risks or who have failed to improve on the old treatment should consider burosumab. There’s more than enough evidence now to know that burosumab is a better (or at least equal) treatment for most patients (kids do significantly better generally, and adults tend not to have any other options at all where the benefits outweigh the risks). Given how much is known about burosumab, it shouldn’t be relegated to second-class status even by implication. Any unknowns about long-term burosumab treatment can be addressed without taking a default position that patients should start with phos/calcitriol.
I’m sure there’s more good stuff in the article, but those were the things that jumped out at me on the first read. I expect to take a look at it again in the future, but in the meantime, I’m hoping that everyone in the XLH community will read it, and will share it widely, whether it’s for Thanksgiving or another holiday or just because it’s so good!
I also hope you’ll enjoy the winter holidays while I’m on hiatus from the blog/newsletter. I’ll be back next week with one last post for the year, and then I’m taking December off to catch up on stuff and have some fun.
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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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