I love telehealth and think it offers the potential for more rare-disorder patients to get better care from clinicians who actually understand and have significant experience with their disorder! I’m not alone in believing that, as shown by the results of a survey by Rare Patient Voice last year on the topic of telehealth. They…
XLH BLOG
Looking ahead: 2023 and beyond
The XLH community (there really isn’t an official community for TIO or the other genetic hypophosphatemias that I’m aware of) has done some really great work, like the International XLH Alliance’s annual symposiums of hypophosphatemia, but there are a lot of projects that no one seems to be working on. So, in lieu of resolutions…
December hiatus
I’m taking the month of December off from blogging, since I’ll be too busy to write, and you’ll be too busy to read. I’ve got new topics lined up for the new year, and will be back on January 4th! If you don’t want to miss anything, and you’re not already a subscriber, click on…
Something to be thankful for
I’m still working my way through the videos from the Third XLH Symposium organized by the International XLH Alliance, and every time I think a presentation can’t be topped, the next speaker is even better! I’m so thankful for all the patient advocates working on our behalf, and especially the volunteers behind this symposium. If…
Dental issues
You may get tired of hearing me rave about how great the presentations were at the International XLH Alliance’s symposium this summer, but really, I’ve never seen anything quite this impressive, both individually and as a collection. The video on dental issues is the first time, to my recollection, that I’ve ever seen a presentation…
FGF23 inflammatory syndrome
For more than a decade now, my main message has been that XLH and the other chronic hypophosphatemias are far more than a “pediatric bone disorder.” Clinicians are trained in med school to use shorthand labels for conditions, so they can keep track of the overwhelming amount of information they need to remember. It’s necessary,…
November actions: Just ask
Most of my action suggestions have been intended to benefit the hypophosphatemia community as a whole, which can indirectly benefit you. But it’s also important to advocate for yourself, which can also have broader effects on the community as a whole by making sure you, one of the community members, is thriving! Here are a…
What we have in common
Our journal article about how XLH is a whole-body, whole-life, whole-family condition was, on the surface, specific to XLH, since that’s within the authors’ primary expertise, but I believe that just about everything we wrote (except for the details of genetic transmission) is equally applicable to the other chronic hypophosphatemias. Sure, there are some differences….
Ideas for research
There’s been a ton of research related to XLH (and the other chronic hypophosphatemias), but since phosphate-wasting affects so many parts of the human body, there’s still work to be done! It’s part of what makes now an amazing time to be doing science — we’ve started to understand the biochemistry of the human body,…
Enthesopathy
Technically, enthesopathy is the calcification of tendons and ligaments where they attach to bones (insertion points). It can happen to anyone, with XLH or not, but it happens earlier and more extensively in XLH patients. It can be extremely disabling, since it turns soft tissue (ligaments and tendons) that are supposed to be stretchy into…