Back when I wrote “Did You Know?” for Weak Bones, Strong Wills, in 2017, I thought I was documenting something that had happened in the past but that fortunately patients in the twenty-first century wouldn’t ever have to experience. But then I was contacted recently by a patient in their late 20s who’d been told ten years ago that they were done with their XLH and could go on to have a normal life. And then of course they developed chronic pain/fatigue, calcifications, arthritis, dental abscesses and hearing loss, and only then did they find out that it was all related to their XLH. They understandably felt betrayed by both their body and the medical profession.
I worry that that message persists and patients even today are being kicked out of pediatric care without any preparation for the future, in terms of either preparation for future challenges or even referral to a clinician who treats adults. So here’s my experience with thinking that my XLH was a thing of the past, only to find out it wasn’t:
DID YOU KNOW?
“Did you know?” a friend asked me a few years ago. “Did you know you’d end up like this?”
He didn’t have to explain what he meant by “like this.” It referred to the stooped spine, restricted range of motion in all of my joints, and the kind of difficulty with walking that would have been more typical of a person in her eighties, rather than my actual age then of late fifties.
We were at our thirty-fifth college reunion, and it’s a school known for the wide range of outdoor sports available to students. I’d always been terrible at most sports, but throughout college I was on the swim team and I ran up to my sixth-floor dorm room several times a day without any noticeable effort. While most of my classmates at the reunion looked like they’d soon be proving that sixty is the new forty, I was old and decrepit before my time.
I lived through the gradual changes and didn’t notice them much on a daily basis, but my friend hadn’t seen me in ten years. He was clearly shocked, and couldn’t reconcile the changes with the person he’d gone to school with. I completely understood why he asked, “Did you know?”
I brushed it off, making light of my challenges, but after the reunion I kept coming back to the question.
The superficial answer was easy: No, I didn’t know. I’m one of many, many, many XLHers who, once the growth plates closed, were essentially told that we were done with the XLH experience. It took another fifteen years before I started to realize that wasn’t true. And probably ten more years before my suspicion that my joint problems were related to XLH was confirmed by medical literature, although even then, they were barely mentioned. That’s the thing about having a rare disease, exacerbated by being, as I am, a spontaneous case, so I don’t have any relatives with the condition. I’d never met anyone with XLH until I was in my fifties, and I’d never seen what it could do to spines and joints and ligaments.
The deeper question was harder to answer: would the experience have been better if I’d known what to expect as I aged with my XLH?
I don’t have a good answer for that. There are several ways in which having that warning would have been useful. It might have motivated me to lose weight and engage in regular physical exercise. A healthy weight and daily exercise is good for everyone, but it’s particularly important for anyone with compromised bone structure. I’ll never know for sure, but I might have slowed down the progression of my arthritis and calcifications if I’d been lighter and more active.
Knowing that I’d have increasing daily pain and mobility restrictions might have helped me to appreciate the things I could do before I lost those abilities. It might also have inspired me to be kinder to myself on days when pain and chronic fatigue kept me from accomplishing everything I wanted to do. There were many times when I called myself lazy, when the reality was that I was physically unable to do much. With some warning of what was to come, I might have been more prepared, and I could have worked on a state of acceptance, instead of becoming angry about what felt like an ambush by the pain, fatigue, and mobility restrictions.
On the other hand, I have to wonder if knowing what was to come might have had some negative consequences. Believing I could do anything gave me the freedom to go to college and law school, practice law, and pursue a normal life. I never questioned whether I’d have the necessary stamina and physical abilities to grow a huge organic garden, make quilts, or serve as the general contractor (and painter) for a huge addition to my house. If I’d known that my skeleton and muscles continued to be compromised by the lack of phosphorus, would I have been that fearless? Would I have been more inclined to go easy on myself when it came to setting goals? Would I have been even more inclined to be lazy, since I had a legitimate excuse of being chronically ill?
I’ll never know for sure whether my life would have been different if I’d known back in college what my physical condition would be in the future. I’d like to think that the knowledge would have helped me to accomplish more of my goals. Still, while I can’t do everything I want to because of my messed-up bones and endocrine system, if I care about something enough, like writing books, making quilts and advocating for fellow XLHers, I find a way to do it.
***
Please note that the author is a well-read patient, not a doctor, and is not offering medical or legal advice.
If you’d prefer to read this blog as a newsletter, sent straight to your inbox, please sign up here.