There’s been so much progress in understanding XLH in the last 25-ish years since the discovery of FGF23, but one area that’s been overlooked is the effect on XLHers of non-XLH conditions. It’s tempting to think that since we have such a potentially devastating (in quality-of-life terms, rather than quantity of life) disorder, the universe…
Author: giniajo@gmail.com
Research results, good and not-so-good
First, the good. It looks like burosumab can help patients with another rare bone disorder, fibrous dysplasia (FD), which includes hypophosphatemia as a symptom in at least some patients. The report on an NIH phase 2 trial, “A phase 2 trial of burosumab for treatment of fibroblast growth factor-23-mediated hypophosphatemia in children and adults with…
Burosumab dosing options
The label for burosumab has been updated to allow for two-week dosing of adults! Not everyone needs that regimen, but it’s great to have options. You can see the history of the burosumab label here: https://www.accessdata.fda.gov/scripts/cder/daf/index.cfm?event=BasicSearch.process The previous label (summer 2025) specified the dosage for XLH adults as “1 mg/kg body weight rounded to the…
In memoriam: Joely Valentine
I just learned that one of the three co-founders of The XLH Network, Joely Valentine, died last week. You can see the obituary online, and there’s also an announcement at the Gofundme for her medical expenses. According to notes given to me by an early president of the Network, Joan Reed, “Larry Winger of northern…
Symptom locking
I just learned a bit of medical jargon for something I’ve observed but didn’t have a phrase for: symptom locking. Unfortunately, it doesn’t seem to have hit the medical journals yet, but I hope to see it in the future, because I’m sure it applies to other conditions than just XLH, and it’s important for…
A tale of two webinars
Two recent webinars reminded me that I would really like to see medical-educational webinars (for non-health-professional audiences) sponsored more by patient groups, rather than by pharma. First, patient groups have a better idea of what patients/caregivers want/need to know about than pharma does (or can find out easily by engaging directly with patients/caregivers). They can…
Another burosumab anniversary
This week is the eighth anniversary of the FDA approval of burosumab (and the eighth birthday of my cats who were born the day before the announcement). Which means we’re coming up on the tenth anniversary of my starting on burosumab, and I’ll be talking about that in June before I go on my summer…
So many journal articles …
… So little time. I can’t keep up! Here are the highlights from a few that seemed particularly interesting. Height: There’s a new article, “Real-world Impact of Treatment on Growth in Children With X-Linked Hypophosphatemia” that suggests early treatment with burosumab will, in fact, lead to patients being taller as adults. The data on this…
The paradox of teams
Do you know what the plural of paradox is? I had to look it up, and sadly it’s just boring old paradoxes. I was really hoping for paradoci or paradocorum or something else a little interesting. Because in health care, especially in the rare disorder world, and even more especially for whole-life/whole-body disorders, there isn’t…
Broken record
Nothing about us without us! (I didn’t come up with that slogan, and I’m not sure who did, but it’s brilliant.) It looks like we need to shout it even louder, because it’s not being heard by researchers (and pharma). I recently told a researcher that there was a logic error in a survey, which…