In the spirit of Thanksgiving (in the U.S.), I’d like to mention some people I’m particularly grateful for this year:
- Oliver Gardner and his colleagues at XLH UK, who are doing a great deal of important work, much of it behind the scenes, and without much in the way of kudos or public recognition. The new website is amazing, and I particularly encourage you to check out the XLH Library, with resources on assorted topics, and if you’re thinking about pregnancy, check out their page on pregnancy/family-planning.
- Carolyn Macica, PhD, for always pushing to better understand the adult manifestations of XLH. She published an article on XLH and arthritis this year that may lead to better understanding of arthritis, not just in our rare community, but in the general population. She’s got a new project underway that I believe will come to fruition in 2024, so more on that later.
- All of the authors of “XLH Matters 2022: Insights and recommendations to improve outcomes for people living with X-linked hypophosphataemia (XLH),” an extremely patient-focused article that is as blunt as I’ve ever seen when it comes to stating that the old treatment regiment does not work. I’m not familiar with all of the authors, but Dr. Javaid (UK), Gabriel Mindler (Austria), and Agnes Linglart (France) are all tireless advocates for the hypophosphatemia community. Check out orthopedic surgeon, Dr. Mindler’s (and colleagues’) article on the XLH ankle if you’re having issues and are considering surgery, or even if you’re just wondering why yours is so wonky!
- Some of the authors of the preceding paragraph;s article are still in the early stages of their careers, picking up the torch from more seasoned XLH experts, but we can’t forget the early experts, like Dr. Carpenter and Dr. Insogna at Yale. Dr. Insogna is retired, and yet he’s still publishing articles (with Dr. Carpenter and others), like a brand new one on “Effect of burosumab on muscle function and strength, and rates of ATP synthesis in skeletal muscle in adults with XLH.” The article goes a bit deep into science weeds (and I only have access to the abstract), but if I understand it correctly, they were investigating whether burosumab directly improves muscle function biochemically (as opposed to by reducing pain/fatigue), and it looks like it does NOT improve muscle function biochemically, but does improve function due to reduced pain/fatigue. (Remember: even negative results are important in science. They know the biochemistry of our muscle function is messed up, but not why, and now they’ve ruled out one possibility.)
- And finally, I’m grateful for all of you who read my thoughts on hypophosphatemia and health care, either in the blog or by way of the newsletter.
Hope you have a lovely holiday, if you celebrate! I’ll be back next week with a round-up of my favorite posts of the last few months, and then I’ll be going on hiatus until January 10th (unless there’s really critical breaking news). Feel free to let me know what you’re grateful for, and also if there are any topics you’d like to read about in 2024.
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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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