There’s a new article about blood pressure in pediatric XLHers, “Office Blood Pressure and Obesity in Children with XLH.” The article starts off badly by calling XLH “the most common inherited form of hypophosphatemic rickets.” I’m cutting the authors a little slack, since they’re focused specifically on pediatrics (only kids can get rickets), but it’s…
Author: giniajo@gmail.com
Seventh anniversary
This week is the seventh anniversary of the approval of burosumab to treat XLH. That means I’ll have been on it for nine years in July. It’s been life-changing for me, but I’m not in the mood to celebrate. And all I can think about is that only about five percent of rare diseases have…
New research on pain
There are two new articles on pain in the XLH community. The first is “Qualitative analysis of pain impact in adult patients with XLH.” The conclusions aren’t surprising to patients: “adults with XLH experience chronic pain that affects all aspects of life. Individuals with XLH face challenges when managing their pain due to lack of…
Listen to patients, part infinity
There’s a lot of good information in this new article, similar to articles published by clinicians in other parts of the world, “X-Linked Hypophosphatemia Management in Children: An International2 Working Group Clinical Practice Guideline,” and the authors a veritable who’s who of North American experts in XLH. Still, I hate to say it, but it…
Research opportunities
Like last week, I’m archiving material of interest to the XLH community that may disappear in the current destruction of government services. This time, it’s information from clinicaltrials.gov about ongoing research related to chronic hypophosphatemia. I’m giving the governmental link for the trials, for as long as the website is active, but also including a…
Recent journal articles
Since I’m not sure how much longer the National Institutes of Health and its PubMed website will exist, I’m sharing links to recent XLH research here. (I’m also worried about the continued existence of clinicaltrials.gov, but I’ll address that next week.) Some may be duplicates, but in the past I’ve been able to use links…
New clinical guidelines for XLH
There’s a brilliant new journal article, “Clinical practice recommendations for the diagnosis and management of XLH” available now (with patients representing advocacy groups listed among the authors!), and for today, I just want to share the link and encourage you to read it for yourself (and print it to give to your clinician if they…
January action: research recruitment
Recruiting patients, especially those with rare conditions, for clinical trials is really, really hard, and that difficulty can delay research. There are a number of reasons why patients are reluctant to participate, some valid, some myth-based, which need to be overcome. And then there’s the basic challenge that most patients don’t even know the research…
Plans for 2025
I’m going to change things up a bit this year, since “embrace change” is my motto for the year. First, I’m going to have a once-a-month post on the basics of XLH. Some of you may recall the “ABCs of XLH” series I did for the XLH Network, and our understanding of the issues has…
Year-end hiatus
I usually go on hiatus for the holidays, but I’m starting it a little early this year, because I have a lot going on right now with life in general and some writing deadlines (and a new book coming out next Tuesday). I’ll be back on January 8, 2025 (unless there’s something time-sensitive that occurs…