You’ve all heard my rant about the importance of not calling XLH “a form of rickets,” so I’ll keep it brief here. I mean, it’s fine to say in conversations with friends or family, where accuracy doesn’t matter, and it’s easier than getting into all the details. But with clinicians and researchers, it’s important to…
Author: giniajo@gmail.com
Good news for a new year!
Let’s start 2024 with some good news. First up is this research that suggests burosumab treatment may improve the dental issues of XLH, even in adult teeth. https://www.nature.com/articles/s41368-023-00259-8#Sec2 That’s pretty shocking to me, since adult teeth form and mineralize in childhood, so I didn’t think it was even possible for them to fill in the…
Hiatus until 2024
I’m taking a break (unless there’s more breaking news, and there may well be — I’ve edited this twice already to push the date back, because of critical calls for action) until January 10, 2024. To tide you over, I’m sharing links to a few recent posts that are my favorites or that I think…
Action needed immediately!
If you haven’t seen the news already, the governmental agency (NICE) in England has decided NOT to pay for burosumab treatment of XLH adults. You can read about it, along with a call to action, at the XLH-UK website. One of the actions is to submit comments to NICE. You’ll find a link at the…
Pain management research
Patients have been talking about the pain of XLH for years and years and decades even, but there’s been very little research into how we can manage it. That’s about to change, and you can be part of it! Carolyn Macica, PhD, at Quinnipiac University, is undertaking research into a possible tool to help XLH…
Gratitude for the XLH advocates
In the spirit of Thanksgiving (in the U.S.), I’d like to mention some people I’m particularly grateful for this year: Hope you have a lovely holiday, if you celebrate! I’ll be back next week with a round-up of my favorite posts of the last few months, and then I’ll be going on hiatus until January…
Arthritis and XLH
There’s a new article about osteoarthritis in XLH patients, “Biomechanical Impact of Phosphate Wasting on Articular Cartilage Using the Murine Hyp Model of XLH” in the Journal of Bone and Mineral Research. While the science in the discussion is a bit advanced for me, the conclusion is simple and opens up possibilities for better understanding…
Diagnostic codes
Kyowa Kirin (the US iteration) did a press release about its presentations at the ASBMR conference earlier this month, which I encourage you to read. The findings aren’t surprising to patients — they boil down to a familiar message: #XLH is a whole-body, whole-life, whole-family disorder! No kidding! (I’m being a bit snarky here, frustrated…
Expert Insights
An international group of XLH medical experts have been meeting annually since 2021 to discuss the current state of treatment and research. They recognize that the understanding of XLH is undergoing fairly rapid changes, and also that their colleagues have useful clinical experience to share where hard data is missing. Th group recently published an…
The horror of “Prior Authorization”
The U.S. Senate’s Special Committe on Aging is holding a hearing Thursday (October 26), and has invited public input. There’s still time (barely) to send your story about living with a rare and progressive disorder. Here’s the announcement of what they’re looking for: Have you or a loved one been affected by a rare, progressive,…