I’ll be taking my usual holiday hiatus, barring any breaking news, from now until the new year, returning on January 7, 2026! But first, I wanted to share some things I’m looking forward to in the coming weeks and months (in no particular order). First, and this is just personal, I’ve got a new book…
XLH BLOG
Catching up on my reading
There are so many articles being published about XLH, that I can’t keep track of them all! Did you know that if you put XLH into the search box at pubmed, there are 848 results. And that doesn’t even include related articles that are not specific to XLH, like discussions of FGF23 in general, or…
Resources for your PCP
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…
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…