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…
Author: giniajo@gmail.com
Protected: Pris en embuscade par nos corps
There is no excerpt because this is a protected post.
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…
Good news
A fellow XLHer recently bemoaned the lack of good news in the XLH community, and I don’t think it was just winter doldrums speaking. Because I tried to think of some good news and couldn’t! At least not at the time. It was a few weeks ago now, and once I was looking for some…
A somewhat personal reflection
Most of my commentaries here are based to some extent on a scientific aspect of chronic hypophosphatemia, but today I’d like to share a bit about the personal side of health care for patients with a rare disorder. My dentist died a few months ago at a sadly young age. I’m heartbroken for her and…
Gene therapy clinical trials
Something I learned from the FDA’s listening session on clinical trials for gene therapy (which you can watch here), is that there are some unique considerations for whether to participate in this kind of trial, especially in the rare-disorder setting. There are risks and benefits to the patient in any clinical trial. The most serious…