After last week’s rant, it’s time to look for some good news!
I’m still happy about the NICE decision in England to approve burosumab for adults (it was already in use for kids, but they had to stop taking it when they became adults). That’s huge, really, and I hope more countries will follow their lead. Yes, the treatment is expensive, but it’s also the ONLY effective treatment for XLH (and TIO when total removal of the tumor can’t be achieved).
It’s long been known that XLH patients tend to be overweight, and there may be a biochemical reason for it, beyond the effect of pain and muscle dysfunction interfering with our ability to exercise. And we know, from non-XLH studies that excess weight is associated in the general population with metabolic issues like diabetes. A brand new journal article, “Metabolically healthy obesity in adults with XLH,” however, suggests that within the XLH population, being overweight is NOT associated with an increased risk of metabolic issues like diabetes. I’m not offering this as justification for gaining weight (excess weight is particularly hard on our compromised joints), just saying that you can relax a little if you have some excess weight and are concerned about possibly having an increased risk of diabetes. And you can cite this article to your clinician if they keep trying to scare you into weight loss with lectures about the risk of diabetes.
I found a site in Japan that talks about a variety of medical conditions that cause rickets/osteomalacia, and it’s pretty good, although I wish they were clearer on some points (it’s confusing about the differences between “vitamin D Resistant Rickets,” the old name for XLH, which needs to be staked like a vampire so it won’t keep coming back to life, and “Vitamin D Dependent Rickets,” a condition where the rickets/osteomalacia really are caused by a Vitamin D metabolism issue, unlike XLH, and more generally, the site is so focused on rickets that it loses sight of the non-bone/teeth symptoms). I particularly like the patient stories, which demonstrate that XLHers all around the world experience the same challenges (there’s comfort in community and shared experiences), especially with delayed diagnosis and with clinicians not understanding that XLH is a lifelong, progressive disorder, so treatment needs to continue after the growth plates close. Note that the site was originally written in Japanese, but if it doesn’t translate to English for you automatically, there’s a button at the top right that gives you that option.
If you’ll indulge me with something not directly related to XLH, I heard about a positive step in medical knowledge generally from a friend, who is involved in the autoimmune disorder setting. He’s done some statistical work on the prevalence of autoimmune disorders, bringing some much-needed big-picture information to that field. Beyond being impressed by his initiative, I think it’s encouraging to see a citizen-scientist, someone who has a personal but well-informed interest in the field, rather than an MD or health-sciences PhD, advancing medical understanding. It’s a good reminder that having that advanced degree isn’t necessarily a prerequisite to having valuable insights. #ListenToPatients (and caregivers).
And that’s about it for good news recently. Perhaps you’ve got some good news about XLH that you can share with me, so my next “good news” collection will be more extensive!
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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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