For a while, the XLH community’s battle cry (or one of them, at least) was “It’s not just for kids.” Whenever we went to conferences, doctors would tell us, “Oh, we don’t need to know about XLH, because we don’t treat kids,” and we’d shout, “No! Wait! XLH is not just for kids!”
The message that XLH is a lifelong disorder has (sort of) sunk in, and there’s a ton of literature that talk about adult symptoms. And yet ….
And yet, what both the health care community and the patient community seems to have absorbed is that treatment needs to continue into adulthood, and it can do a lot of good for the thirty- and forty-year-olds, the ones who, for whatever reason, had relatively mild symptoms before then. For most patients, it’s probably best to stay on treatment throughout their lives, not stopping when the bones finish growing. But for those who go off treatment, starting up again at age thirty (when, anecdotally, it appears that what were once mild symptoms get bad enough to interfere with daily activity), can alleviate late-onset symptoms and slow down the progression of the disease. Patients (and some clinicians) know that treatment can help if it resumes in mid-life (30s, 40s, even 50s), but once patients are approaching retirement or have irreversible symptoms (especially calcification or spinal stenosis), the assumption by both patients and clinicians seems to be that it’s too late to do anything, so there’s no point in starting effective treatment.
I’m here to say that if you fall in that category — older or already riddled with calcification and range of motion limitations — treatment can still help you. It can’t magically dissolve the calcifications or turn back time, but it CAN help enough to make the difference between being able to enjoy life and being totally sidelined.
I was reminded recently by a newsletter subscriber that we don’t hear about the benefits for older patients often enough. This reader told me they started burosumab “six years ago at age 64. I’m now 70 and I’m here to tell you it has saved my life. Almost no fatigue, great loss of weight, can exercise now, easier walking.”
Wish I could say the same about losing weight, but otherwise my story is very similar. I started burosumab at age 61 (the week of my birthday, in fact!), and while it didn’t reverse the calcifications, it did end the spinal spasms that were caused by calcifications (spinal stenosis), and seems to have at least slowed, possibly even stopped the progression of my calcifications. It also lifted much of my persistent fatigue.
I always come back to something another patient said to me years ago, someone who’d been in an earlier phase of the burosumab clinical trial than I was in, and so had experienced both the relief that the treatment offers and the recurrence of symptoms when he went off burosumab during a break between phases — You don’t know how bad you feel until you feel better.
That’s absolutely true, and it’s why I firmly believe that all XLH patients should consider at least trying burosumab, even if they think their symptoms are mild and stable. I used to say that I didn’t have the background sort of constant bone bone that other patients described, until I went on burosumab and the bone pain that I had always thought was just the normal human condition — not pain, but just how bones were supposed to feel — went away! Then I realized, “Oh, so that’s what people were talking about when they said they always had some amount of bone pain.” It wasn’t as terrible for me as it is for some patients, more on the level of mild discomfort than major pain, but I can’t help thinking that it had to have been physically draining, which contributed to my constant fatigue.
TIO patients know what it’s like to not have bone pain , so they know when they develop symptoms that need treatment. XLH patients, though, have never been free of our symptoms, so we think they’re normal until we experience what life is like without them. Phosphorus supplements couldn’t give us that experience, because they have such a short lifespan in the body, but burosumab gives us a chance to feel what normal is like!
So if you’ve been thinking it’s too late to benefit from treatment, it’s really worth finding out for sure. Burosumab may or may not help you, but you won’t really know unless you try it (after discussion with an expert clinician, of course).
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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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