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…
Author: giniajo@gmail.com
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,…
International XLH Awareness Day
Next Monday is International XLH Awareness Day, and I hope that sometime between now and then you’ll check out the excellent social media campaign that the International XLH Alliance is running. The theme is what it means to be part of a patient community, and the Alliance is sharing insights from patients/parents of the various…
ASBMR!
Another short post this week, because while I did finally finish the manuscript yesterday and sent it off to my beta reader, my brain is now mush. But I can’t miss the chance to let you know that the American Society for Bone & Mineral Research (ASBMR) — one of the two professional organizations that…
National history study data!
Another short entry this week (the editing gremlins haven’t totally won yet, but it’s close), this time about the natural history study happening in Europe. “The International XLH Registry: first interim analysis” just establishes baseline data about its almost-600 participants (half of what they hope to eventually include eventually), so there’s nothing terribly surprising (to…
Transition to adult treatment
Apologies for not posting last week (and a little late this week). I’m facing down a deadline for my day job (manuscript for a book that will release next summer), and it had to take priority. I’ve got another week to go before the manuscript is done, so this week’s entry will be brief, but,…