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 XLH article in the same issue of the Journal of the Endocrine Society: “An Evidence-based Physical Therapy Prescription for Adults With X-linked Hypophosphatemia.”
There’s just so much good information in the article, which fills a major gap in treatment options for XLH. I’m sure I’m not the only person to have had traumatic experiences when trying to get physical therapy to improve my mobility. I had a physical therapist once who insisted on starting with range of motion exercises for my neck (when I was seeking help with strengthening my leg muscles!), despite my telling him that the spinal restrictions there were due to calcification, not tight muscles, and I even showed him the report from the CT scan to prove it. I’ve also been told that prescribed exercises couldn’t possibly be painful, despite my saying they hurt (probably due to misaligned joints and calcified tendons), like I didn’t know anything about my own pain.
Until this new article, I had nothing but my own experience (and we all know how little credence health care providers generally give the patient experience) to back up what I was telling them or to suggest types of exercises that could be helpful, but now I do!
The article is a little dense with jargon and math (which it needs to appeal to its intended audience of health care providers). Patients (and family members) can learn a lot from reading it though, even if you skip over the more complicated bits. It really boils down to two simple concepts: 1. physical therapy can be helpful for XLH patients, and 2. strength and stability are safer, more feasible goals of the therapy than improvements in range of motion.
In terms of what physical therapy can do for XLHers, the article talks about one of the biggest mobility issues for XLHers, which is the risk (and related fear) of falling. The study was designed to see if certain exercises could reduce that risk (and fear), and as it turned out, the exercises did indeed do that: “Progressive improvement … [was] demonstrated in both participants in balance, balance confidence, fall risk, and mobility….”
In terms of having realistic expectations for therapy, the article points out: “Critically, owing to the restrictive physical barriers [calcifications and malformed bones] for joint motion, significant gains in passive ROM [range of motion] were not an explicit goal of this study as this may impose unintentional and irreversible harm to the patient, especially in patients with spinal calcifications and stenosis.” Physical therapists always want to increase our range of motion, but that’s exactly the wrong thing for them to focus on, and it can actually do significant damage. Range of motion that’s limited by calcification is permanent and simply cannot improve (until science figures out how to reverse the calcification), but stability and strength can improve with physical therapy.
Another important piece of the study involves the recognition that XLH is a whole-body disorder, so while many think of it as primarily affecting the legs, the upper body is also affected and may need physical therapy. “Upper-extremity restriction is typical of advanced XLH due to the bony changes described and translate into a number of functional limitations involving movement of the shoulder joint in all planes, including reaching overhead, toward the ground, and personal hygiene and grooming activities.” But physical therapy for the upper body, while it may not increase range of motion, can improve stability: “Exercises targeting the shoulders to improve alignment of the head with the vertical body axis served to improve center of gravity and sense of balance.”
So if you’ve ever considered pursuing physical therapy but were afraid of making things worse (a very real and significant risk for us), I encourage you to get a copy of this article, read it over (you’ll be able to understand the most important information), and use it to interview some physical therapists. You’ll be able to weed out any health care providers who think they already know everything and aren’t interested in learning about a rare disorder, and then when you find someone who’s actually eager to read it (some will be, I promise, and they’ll be grateful for the information!), you’ll finally be able to get some help. Given the progressive nature of XLH, common sense suggests that the sooner you start on a physical therapy regimen and get used to doing the exercises at home, the better, so don’t delay any longer!
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Please note that the author is a well-read patient, not a doctor, and is not offering medical or legal advice.
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