Back before the FDA approved burosumab in 2018, I did a series called “The ABCs of XLH” for the XLH Network. Since we’re coming up on XLH Awareness Day (June 23 in the Americas), I thought I’d revisit the series to see what I might do differently if I wrote it today, five-plus years later….
XLH BLOG
Pain scales
Most patients hate the pain scale, especially those of us who live with chronic pain. We’ve learned to ignore a good chunk of our pain, and what would be catastrophic for people who do not live with chronic pain is just another day for us. Which doesn’t make us special or heroes or warriors; it’s…
Terrible, horrible, no good, very bad treatment
We’re a few months past the fifth anniversary of the FDA approval of burosumab for treatment of XLH, which got me to wondering about when the medical community will catch up to the fact that the pre-burosumab treatment regimen does not work. (Slight exaggeration, but necessary to move the needle, I think.) It’s beyond time…
Patients on strike
If you’ve been reading my stuff for a while, you know that that I encourage everyone to get involved in (ethical) medical research, both when it’s pure science (no clear benefit to the volunteers) and when it’s interventional research (where a treatment might benefit the volunteers). I’ve done both kinds, and the researchers and their…
Deadlines & specialists
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…
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…