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…
Author: giniajo@gmail.com
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…
Actions for July
Last week, I reminded you about a few of the topics covered in the first six months of 2022. So now I have an easy action for you: let me know what else you would like me to address. Or would you like to write a guest post about something you’ve experienced in dealing with…
In case you missed it
Taking the week off from creating new content, but if you’re new here, I’ve collected links to my favorite posts of the last six months, in case you missed them: Pediatric treatment and the need for adult treatment in a really well-done journal article My take on applying for Social Security Disability benefits: Part one…
The XLH gait
This week I’m sharing some light beach reading for your summer vacation. Okay, I lied, and it’s not really light reading, but it’s still worth your time if not perhaps while on vacation! It’s unlikely that your clinicians (unless you see top experts) will know about the most recent XLH research, since there’s a lot…
Read it now!
The patient-written article about XLH (also relevant to the autosomals and TIO after it’s diagnosed and resistant to surgery) is live in preprint format (may contain some typos and formatting issues)! You can read “Whole Body, Whole Life, Whole Family: Patients’ Perspectives on X-Linked Hypophosphatemia,” online before it’s published in print. The authors are Amber…