If you haven’t seen the video already, there was a segment about XLH on a televised talk show recently. You can watch it here: https://www.youtube.com/watch?v=BJoNh_X5GMk&t=908s
It’s basically a paid infomercial sponsored by Kyowa Kirin, NA, advertising the need for treatment, rather than a specific treatment. There was another similar one a while back sponsored by Ultragenyx, which you can see here: https://www.youtube.com/watch?v=z6NdJrDhY1E&t=30s
Just because it’s an infomercial doesn’t make it bad. I think this one was really well done (and no, I’m not getting paid by KKNA to say so!). Engaged patients, care providers, and family member probably already know everything in the video (especially if you’re already on treatment of some sort, whether it’s burosumab or phos/calcitriol), so you may not find it particularly enlightening. That doesn’t mean it’s poorly done, just that I suspect (I have no inside information here) that you’re not really the intended audience, for this video. If you really want in-depth information about XLH, I’d recommend watching the video from the Symposium on Hypophosphatemia (Dr. Karl Insogna) instead: https://www.youtube.com/watch?v=AUdPIhDENa8&t=507s
So who is the audience for this video, the people who can benefit most from it? My guess is that it’s an attempt to reach out to two distinct groups of XLH patients, and I think it does so quite well. One group consists of XLH patients who have given up on ever getting help with their symptoms. These are the patients who probably haven’t seen a specialist in many years, because they’ve sought treatment before and been told repeatedly that there’s no effective treatment, nothing that medicine can offer them, so they’ve just given up, accepting their fate, and don’t know that now there is an effective treatment. I was in that group at one point, when there really wasn’t any treatment, before I joined the patient community and began to have hope. These patients might tune into a tv show or video that mentions XLH, just out of curiosity, since it’s so rare to see media discussing XLH, and then hear that there is a new treatment (even though it’s not named), and be inspired to try one more time to find a specialist who can help them. I hope they do, and can see that it’s not too late for them to feel better, even if not all of their symptoms are reversible.
The second intended audience group, I think, consists of patients who have only mild symptoms and don’t think they’re worth treatment. That includes the young adults in what’s been described as the honeymoon phase of graduating from pediatric treatment, when they’re feeling relatively good, and are fueled by the energy and resilience of young-adulthood (and a bit of rebellion against the demands of their pediatric care regimen), so they’re not terribly motivated to continue treatment. And it includes the rest of the adult population to the extent that, while their symptoms have worsened slowly, the patients have adapted, and they don’t think treatment is necessary.
What these patients may not be fully aware of is the devastatingly progressive nature of XLH. Waiting until things get bad enough to be “worth” treating risks permanent damage, especially in the form of calcification of soft tissue in the spine and joints (as well as permanent dental damage and possibly — there’s no data yet on whether treatment is as beneficial to hearing as it is to dental health — irreversible hearing loss.
Too often, adult treatment is recommended by clinicians (and in journal articles) only for patients with the most severe symptoms (and sometimes that’s applied, horrifyingly, to kids too), and I think patients absorb that attitude too. But it’s the totally wrong approach. Ongoing treatment (whether burosumab or something else) should be the default, the standard practice, and deviation from it should have to be justified, not the other way around. Otherwise, it’s just a game of Russian roulette, because there’s absolutely no way to predict which patients will, over time, develop more severe symptoms until after the damage is already done and has become irreversible. Patients with mild symptoms as a kid or young adult can go on to have severe symptoms later if they stop (or never start) treatment.
If there’s one thing that both patients and clinicians need to better comprehend about XLH, it’s the relentlessly progressive nature of the condition, as well as the patients’ ability to cope with the advancing symptoms for much longer than we should. The progressive nature of XLH is a big part of the “whole body, whole life” language that many of us use to describe XLH, but it’s also useful to explain that the symptoms don’t just hit a plateau at the end of childhood and then remain the same over the remainder of the patient’s whole life, but in fact worsen irrevocably and at a rate much faster than can be accounted for by the natural effects of aging.
This new video really seems to hit the “progressive” aspect of XLH hard, which is exactly what I think advocates for better patient treatment need to be doing. The message starts in the title: “A Hereditary, Progressive, Lifelong Disease.” Then the patient featured in the video essentially testifies to how her condition has progressed over time, showing the progressive nature of XLH. The patient did a great job of expressing this theme, and it’s no reflection on her, but If there were one thing I’d have liked to see in the video, it would have been an additional patient who could testify how even an XLHer who has mild symptoms early on, someone who isn’t already mobility-challenged by young-adulthood, someone who didn’t have significant pediatric surgery, can still go on to have disabling symptoms in their thirties and forties (and beyond), because of the progression of symptoms.
Around the ten-minute mark, there’s a health care provider talking about how symptoms continue in adulthood, which may not sound too surprising, since of course we’re not going to get taller and our bones aren’t going to get straighter. But what’s important is that the video goes on to talk about how “new symptoms may appear” in adulthood. That’s the message that I think a lot of patients (and health care providers) haven’t heard if they’re not actively engaged in the patient community.
The video goes on to address the myth that it’s too late for adults to get help for their XLH in adulthood. I’ve heard patients say things like that (at least implicitly), and it breaks my heart. It may have been true in the past, but burosumab really changes everything for XLH, and it can benefit virtually all of us. As the health care provider says (around eleven minutes), “Whether you have no symptoms, mild symptoms, or your disease is progressing, this is a lifelong disease process that requires multidisciplinary care.”
I hope this video reaches its intended audiences, and if you know anyone who has XLH (or TIO), but is feeling either invincible or hopeless, please share this video with them!
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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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