Throughout this blog, “XLH” is meant as shorthand to include the autosomal variants (autosomal dominant and autosomal recessive hypophosphatemias), and I’ll try to mention whenever information is relevant to only one subcategory of genetic hypophosphatemias. Much of the information will be relevant to the non-genetic TIO (Tumor Induced Osteomalacia) community as well, and where possible,…
XLH BLOG
Stronger together
The slogan that we’re stronger together usually refers to individual patients/caregivers, but I’m starting to see more examples of how it’s also true at the level of patient advocacy groups working together, both within and without the boundaries of a specific medical condition. A great example of multiple groups focused on the same medical condition…
Parathyroids run amok
You probably know that the old XLH treatment, among its many side effects, tended to cause hyperparathyroidism (overactive parathyroid glands). Some XLHers, me included, can develop hyperparathyroidism even without any treatment! Back before I had even heard the term XLH, when I was in my twenties, a random blood panel revealed high parathyroid hormone (PTH)…
Assorted journal articles
So many new journal articles! Nothing terribly earthshattering, but every little tidbit helps. You’ve heard my rant about case reports seldom offering much new information on XLH, but the two I’m highlighting today are different, because there’s virtually no research on the use of burosumab during pregnancy, so we (and pediatric endocrinologists) can learn from…
PCPs and XLH adults
Finally, I’ve got the promised information on what I think primary care providers (PCPs) and emergency-care providers need to know for overseeing the care of XLH adults. You’ve probably all experienced the challenge of convincing a health care provider that some of the counter-intuitive aspects of XLH are true, e.g., that giving phosphorus to a…
XLH and Meniere’s
If you participated in the research into XLH and Meniere’s (a combination of vertigo and hearing loss, with a known correlation with XLH), there’s a published article based on that data now: “Association of PHEX Gene Dosage With Meniere Disease and Related Audiovestibular Phenotypes in X-Linked Hypophosphatemia.” I only have access to the abstract, not the full…
Miscellaneous catch-up
I collected a few bits of info over the summer, which aren’t big enough for a whole commentary, so I’m sharing them as a group today. First, there’s a new review of the dental issues for #XLH patients, “Diagnosis and management of X-linked hypophosphatemia in dental practice: A scoping review.” There’s nothing particularly new in…
The progressive nature of XLH
I’m back from my summer hiatus with some exciting news and more ideas for future posts than I can fit into the remaining weeks in the year! You’ve probably noticed that I pretty quickly abandoned my original plan to talk about the three FAQ sheets I think we need and no one else is creating…
Hiatus and hope
First, I’m taking a two-month hiatus this year, partly to deal with some burnout issues and partly to spend any available XLH-related time on the two projects I mentioned at the beginning of the year (guidance for primary care providers and information on aging with XLH). This is the last post until September. Second, I…
Ten-year anniversary
As of next week, I’ll have been on burosumab for ten years! Somewhat to my surprise, it’s not easy figuring out what that means to me, so this is going to be a longer and more personal essay than usual, and I hope you’ll bear with me while I try to understand the experience. Ten…
A rose by any other name …
… is confusing. I meant to write about the use of generative AI (misleading name for Large Language Models or LLMs), only to stumble across research into using them to generate billing codes, which go into a patient’s permanent records, and OMG, they think getting a third of them correct is acceptable. That’s two-thirds of…