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…
XLH BLOG
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…
More consensus on XLH treatment
I’m starting to wonder when journals are going to stop publishing essentially the same article, over and over, on the topic of experts’ opinions about XLH treatment. I mean, it’s good to have consensus (especially when it mostly agrees with what patients expect from treatment), but it also feels like a waste of time and…
Only Questions in the Building
Sometimes I have answers for you, or at least hypotheses, but today all I’ve got is questions. I didn’t say they’d be cheerful questions! But those are some of the things I wonder about on the too-frequent nights when I can’t sleep. What are your XLH-related (or more general health care related) questions? *** Please…
Non-XLH research
One of the hacks for getting funding and attention for XLH research is to pitch its potential benefits for health care in general. So, for instance, the more we know about excess FGF23 levels in XLH patients, the more we understand FGF23 in general, and can apply that knowledge to, e.g., cardiac and kidney patients…
Taking action
I’m way overdue for sharing an action you can take to benefit the rare disorder community, and equally overdue for taking action myself. So today I’m asking you to join the National Organization for Rare Disorders’ “Living Rare” study if you live in the United States AND are an adult (18+) with a rare disease/disorder…