This week I’d like to get some feedback about what you do to organize your (or your kids’) medical stuff — appointment schedules, contact info for health care providers, past lab results, key journal articles for sharing with new health care providers, etc. — and what you’d like to do better. I consider myself fairly…
XLH BLOG
What keeps me awake at night
I started the year with optimism, and there is good news to revel in, but I’d be lying if I said there weren’t also problems on the horizon. There are certainly plenty of reasons for insomnia in the news, but what’s keeping me awake at night in the healthcare field is this: we’re looking at…
I need a footnote!
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…
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…