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…
Author: giniajo@gmail.com
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,…
How much suffering is enough?
I had something else planned for this week, but then a journal article came out that struck me as a really bad harbinger of limited access to expensive treatments in the future, not just for the XLH community, but for all patients and all conditions, both rare and common. Sometimes patient advocates are warned not…
Educating your clinician
I suspect we’ve all experienced a referral to a supposed expert for treatment of our XLH, only to find out that they’re either the wrong specialty (rheumatology is a common referral, and they can treat the arthritis but generally don’t know how to treat the phosphorus wasting) or they’re the right specialty (endocrinology), but they…
What about our arms?
Do you get numbness or tingling in your hands or fingers? I’ve been thinking about that recently and wondering if it’s an under-recognized symptom of XLH. I’m just speculating here, but I wonder if we’re more at risk for carpal tunnel syndrome (and other nerve impingements that affect the hand) than the general population. We…
Whole body, whole life, whole family
Last week, I talked about knowing the main message you want to convey when you tell your story. Now, I want to ask you to include a specific message whenever you tell your story. It’s the “whole body, whole life, whole family” message. It doesn’t have to be the whole focus of your story the…
August action: tell your story
You may have seen some calls to “tell your story” as part of awareness campaigns, and you wanted to do it, but didn’t know where to start. I won’t tell you it’s easy (unless, like me, you’re a professional storyteller!). But it doesn’t have to be hard. It all boils down to somewhat inconsistent elements:…
XLH, obesity and hypertension
Both patients and medical experts have known for a while that XLHers tend to be overweight, which isn’t surprising, given that it hurts when we move, and we have an elevated risk of falling or otherwise seriously injure ourselves with physical activity, so we have extra disincentives to get the recommended amounts of daily exercise….
Physical therapy for XLH
First, a quick note to update the link for the patient perspective article I mentioned a few weeks ago. Please update your bookmark and use this one when you share it with your health care providers (and friends and family and anyone else who’s interested): https://academic.oup.com/jes/article/6/8/bvac086/6607648 Mostly, though, I want to talk about the other…