First, I’m taking a two-month hiatus this year, partly to deal with some burnout issues and partly to spend any available XLH-related time on the two projects I mentioned at the beginning of the year (guidance for primary care providers and information on aging with XLH). This is the last post until September. Second, I…
Author: giniajo@gmail.com
Ten-year anniversary
As of next week, I’ll have been on burosumab for ten years! Somewhat to my surprise, it’s not easy figuring out what that means to me, so this is going to be a longer and more personal essay than usual, and I hope you’ll bear with me while I try to understand the experience. Ten…
A rose by any other name …
… is confusing. I meant to write about the use of generative AI (misleading name for Large Language Models or LLMs), only to stumble across research into using them to generate billing codes, which go into a patient’s permanent records, and OMG, they think getting a third of them correct is acceptable. That’s two-thirds of…
XLH and other health issues
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…
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…