Someone asked me recently to recommend a basic XLH resource to give to a new-to-them primary care provider (PCP), so the clinician would have some background information about the disorder. It should have been an easy question, because there have been so many journal articles about XLH in the last couple of years, including several…
Author: giniajo@gmail.com
The new guard
One of the things about the XLH community that both scares me and also gives me hope is that doctors aren’t immortal. It scares me, because a lot of the well-known experts are retirement age, so as much as we’d love to have them treating us and sharing their insights with other clinicians forever, that’s…
Mutation & phenotype
Overall, researchers haven’t found a strong correlation between specific mutations on the PHEX gene and the phenotype (type and severity of symptoms) connected with that mutation. This case study suggests that a newly discovered mutation might have a slightly different phenotype, with more dental issues, fewer skeletal ones. “A deep intronic PHEX variant in a large Danish…
Thinking out loud
I’ve been thinking about a couple of related topics lately, without coming to any sort of solid conclusions or action plan, so today I’m throwing them out for your consideration. The first topic is the how chronic disorders (with no cure) are different from acute ones: there are just so many opportunities (not all opportunities…
APEX
Continuing last week’s theme of good news, there’s a new initiative by Kyowa Kirin (in its various iterations internationally) to combine natural history study data about XLH from all around the world. It’s called APEX, and it combines data from the US (DMP), Europe/Israel (IXLHR), and Japan and South Korea (Sunflower). Ideally, we’d have just…
Art (and news) for awareness!
Last week’s topic was a bit depressing, so let’s try something more upbeat this week! Let’s talk about art in the rare-disorder setting! The National Institutes of Health are launching a new awareness campaign, “Rare Diseases Are Not Rare!” and they’re inviting submissions of digital art to promote this awareness. and the ways that rare…
It’s NOT the rickets, stupid
Seems like a good day to go on a long rant. But first, an update on Medicare and telehealth—the deadline passed without an extension, so if you, like me, are on Medicare and have a telehealth appointment with your specialist, no, you don’t. At least, I assume they’ll all be cancelled and rescheduled (perhaps with…
Possible end of telehealth
If you live in the U.S. and your (or a loved one’s) health insurance is Medicare, you need to be aware (but don’t panic) that coverage for telehealth visits may end on September 30, 2025, unless Congress takes action. Coverage for telehealth was required during the pandemic for obvious reasons, but the legislation had an…
Enthesopathy research
For what feels like forever, I’ve been hoping for more research into XLH enthesopathy (calcification of tendons and ligaments), and now we finally have some: “Prevalence of Enthesopathies in X-Linked Hypophosphatemia—an Explorative Ultrasound Study.” It’s been known for a long time, at least among experts, that XLH patients have a high prevalence of enthesopathy (at…
Ninth anniversary of treatment
I missed it two months ago for a variety of reasons, but as of the first week of July, I’d been on burosumab for nine years. Ninth is a kind of odd anniversary—substantial, so it’s hard now for anyone to credibly say we don’t know what the medium-term risks/benefits are (minor risks, major benefits)—but not…