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,…
Author: giniajo@gmail.com
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…
International XLH awareness day
Later this month (October 23) is XLH Awareness Day internationally. I hope you’re already planning to share the patient perspective article some more, along with whatever other plans you have for helping to raise awareness. Another thing you can do if you use Twitter is check out my new account there, HypophosphaBot, and maybe give…
Muscle function
Researchers are starting to pay more attention to the effect of XLH on muscle function. Getting some data on this aspect of XLH is absolutely critical, both in pure-science terms (understanding the disorder better) and practical terms (understanding treatment needs). If XLH is purely a bone disorder (which it’s not), then it makes sense to…
Random thoughts for 2022
So how come XLH research never involves chocolate bars? We only get leaky buckets (see minute 1:37 of the video for a really nicely done use of the image)! Oh, but we do get cats — did you know that their purr has the same sound frequency as what’s been identified as the range that’s…
Dental research
One of the things patients have been saying for years is how much our dental issues affect our quality of life, and researchers are finally starting to look into whether burosumab treatment will prevent or at least reduce the spontaneous abscesses we have. The hope, of course, is that if patients start burosumab as infants/toddlers,…
Spread the word: patients have spoken!
It’s time to share the bejeebers out of this article: “Whole Body, Whole Life, Whole Family: Patients’ Perspective on XLH.” As I write this, it’s been viewed online about 750 times, and downloaded close to 200 times. But there are an estimated 12,000-16,000 XLH patients in the U.S. alone, and the article is available worldwide,…