I’m bumping up against a tight deadline for finishing a manuscript this week, so a really short, partially recycled post today! One of the biggest problems for the hypophosphatemia community (and all rare communities) is access to specialists who know more about our conditions than a vague recollection of hearing it mentioned twenty years ago…
XLH BLOG
Odds and ends
No theme today, just some left-overs that are too good to throw out, but not quite enough for a full meal. First, I’ve heard from a few folks recently, some who had similar experiences to what I described, some who had different ones, and I really appreciate the feedback. It’s useful to know the whole…
Spontaneous v. inherited
XLH is a genetic disorder, caused by a genetic variation (any of some six hundred that have been identified so far) on the X chromosome. And it’s dominant, so if the relevant variation exists in the DNA, the person has the disorder, so there are no “carriers” as are found in recessive disorders like the…
How healthy are your ankles?
The flow of newly reported research continues strong, and I almost missed this one until a patient advocate in Australia (Hi, Sandy!) shared it: “The ankle in XLH: Reduced Power, Motion and Quality of Life,” in the March issue of Frontiers in Endocrinology. The whole article is available to read at the link, and I…
Warrior? Survivor? Patient?
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…
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
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…