Even decades after graduating from the last of many schools, I still feel like September is a time of fresh starts and new learning. Which is just what we need in the chronic hypophosphatemia world. I often talk about some major XLH-related misconceptions (i.e., it’s purely pediatric, purely bone-related), but there are a number of…
Author: giniajo@gmail.com
XLH and disability
A while back, I did some posts on applying for disability benefits (not individual legal advice, just general information), but at the time, we had no data on how many #XLH adults were receiving disability benefits, or more generally, any data on the employability picture for us. (You can see the disability benefits posts by…
Not just for kids, revisited
For a while, the XLH community’s battle cry (or one of them, at least) was “It’s not just for kids.” Whenever we went to conferences, doctors would tell us, “Oh, we don’t need to know about XLH, because we don’t treat kids,” and we’d shout, “No! Wait! XLH is not just for kids!” The message…
Good news!
After last week’s rant, it’s time to look for some good news! I’m still happy about the NICE decision in England to approve burosumab for adults (it was already in use for kids, but they had to stop taking it when they became adults). That’s huge, really, and I hope more countries will follow their…
On being a champion
Kinda’ seems appropriate, in the wake of the Olympics, to talk about what it means to be a champion. You all know how much I believe in the benefits of burosumab, so much so that, as a layperson, not a doctor, I think it should be the default treatment for both XLH and TIO (when…
Where to (re)start?
So much has happened in the XLH world (and rare disorder community generally) during my hiatus month. Hard to know where to start! Most exciting is that adult patients in England will soon be able to get burosumab, and teens won’t be forced to stop taking it when their growth plates close! Apparently the details…
Summer hiatus & great data
Mostly just intended to let everyone know that I’m taking July off for birthday month and recovery from cataract surgery and assorted other distractions. I’ll write if there’s breaking news, but otherwise, I’m taking the month off from deadlines and commitments. But first, I need to share a journal article with some really great data…
Patients’ point of view
Too often, members of the medical community forget to consider the patient’s point of view when describing or prescribing a treatment or regimen. What I just realized is that sometimes even I can forget, and I’m always advocating for health care providers and researchers to #ListenToPatients. Recently, I wrote about a study that compared surgical…
Enthesopathy breakthrough?
I talk a lot about enthesopathy (calcification of the soft tissue where it attaches to bone), in part because it’s a large part of my own disability, but also because it’s widespread in the hypophosphatemia community while at the same time getting little attention in research and literature. There’s some brand new research though that…
Case reports are problematic
XLH (and to a lesser extent the other chronic hypophosphatemias) has been well-represented in medical journals in the last ten years or so, in the run-up to the clinical trials and eventual approvals of burosumab both XLH and TIO. The articles tend to fall into one of three categories: pure science at the molecular level…