I don’t have any answers today, just a question: what’s your preferred label (in the medical setting)? I like “XLHer” for those of us who have that specific condition. It’s descriptive and doesn’t have any annoying connotations. It’s also a bit of an insider label, in that anyone who uses it is likely to be…
Author: giniajo@gmail.com
A negative result is still good
Life is interfering with all of my plans this week, as it does to everyone at some point, chronic illness or not, so I don’t have a fully thought-out post for you today. So I’ll just share a quick thought on medical research, inspired by this article: “Impaired Physical Performance in X-linked Hypophosphatemia is not…
Fifth anniversary of burosumab
Next Tuesday is the fifth anniversary of the U.S. FDA’s determination that burosumab is safe and effective treatment for XLH, so it’s a good time to look at both the progress since then, and my hopes for the future. So far, burosumab seems to have been fairly widely adopted for treatment of children with XLH…
Not cute enough
I’ve written before about how some in the medical community apparently think that adults with XLH aren’t suffering enough to justify the cost of the only effective treatment available. Now, there’s another strike against us: adults aren’t cute enough to be worth treating. In the world of philanthropy and fundraising, it’s generally well-known that seeing…
Protected: Pris en embuscade par nos corps
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Ambushed by our own bodies
Back when I wrote “Did You Know?” for Weak Bones, Strong Wills, in 2017, I thought I was documenting something that had happened in the past but that fortunately patients in the twenty-first century wouldn’t ever have to experience. But then I was contacted recently by a patient in their late 20s who’d been told…
XLH: fact v. fiction
Ready for a pop quiz? This should be easy for anyone living with, caring for, or treating XLH. Which of the following statements are true and which are false? I’m pretty sure you quickly figured out that all of those statements are false. And yet, they persist in the minds of healthcare providers (and payers),…
Recent published research
This week, I’m catching up on recent journal articles related to chronic hypophosphatemia. First, a caveat that I said a few months ago that researchers and editors seemed to have gotten better about not conflating XLH with rickets, but I may have been premature in announcing that that issue had been fixed. You’ll note that…
How to study pain
While we need a cure that’s specific to the biochemistry of individual rare disorders, there’s still a lot we can learn from the other rare bone disorders and their patient advocacy work. I’m particularly impressed by a current project by the Osteogenesis Imperfecta Federation Europe to better understand bone pain. OI is a rare bone…
Parathyroids and phosphorus
One of the (many) advantages to burosumab treatment is that, unlike the old phosphorus/calcitriol treatment, it doesn’t trigger hyperparathyroidism (excessive parathyroid hormone production). You’ve probably heard of the advice given to XLHers (and I believe also to TIO and other chronic hypophosphatemia patients) that you should NEVER take unopposed phosphorus supplements. I’ve heard a number…