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…
Author: giniajo@gmail.com
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…
Patient-centered v. Patient-decorated
Ronnie Sharpe (Rare Patient Voice) recently noted on LinkedIn that a lot of what is supposedly “patient-centered” is instead “patient-decorated.” That’s been my experience too often. Frequently people in the medical community claim to be all about being patient-centered or patient-focused, but when push comes to shove, and patients say something they don’t want to…
Pair o’ Parathyroid patients
Just as a matter of apparent coincidence, there were two case reports published recently on hyperparathyroidism (overly active parathyroid glands) in patients with chronic hypophosphatemia. Take together, they raise some interesting questions, which weren’t addressed by the case reports themselves. The first is: “A case report of X-linked hypophosphatemia combined with primary hyperparathyroidism.” I’ve mentioned…
Two universes of patients
It sometimes feels like the XLH community has a foot in each of two universes — one that’s moving forward with a life-changing treatment, and one that’s stuck in the past. And, really, the XLH community split into almost two different disorders in 2018 when burosumab started to become commercially available—one that consisted of patients…
Phosphorus and bone mineral density
There is a new and somewhat odd finding recently published from research looking to establish whether there’s a relationship between blood phosphorus levels and pelvic bone density in the general population, not XLH patients. They concluded, “These findings suggest that elevated serum phosphorus significantly increases the risk of fracture. … This negative correlation suggests that…