I collected a few bits of info over the summer, which aren’t big enough for a whole commentary, so I’m sharing them as a group today.
First, there’s a new review of the dental issues for #XLH patients, “Diagnosis and management of X-linked hypophosphatemia in dental practice: A scoping review.” There’s nothing particularly new in the article, but it’s a good overview, and it collects many other relevant articles in the footnotes, so if you have a dentist who’s interested in learning about XLH, it’s a good one to offer them.
Second, Dr. Agnes Linglart, a pediatric endocrinologist in France, was recognized for her research work (including work on XLH) by the French Society of pediatric endocrinologists at this year’s conference. If you read enough journal articles about rare bone disorders, you’ll come to expect to see Dr. Linglart’s name in many of the very best articles, but doctors who study rare diseases don’t get much attention outside their little niche, so it’s nice to see her getting the recognition of her peers. Also, if you can read French, there’s a new publication/newsletter about XLH from the hospital where Dr. Linglart is affiliated. I can’t read enough of it to know for sure, but it looks excellent, as I would expect it to be, given her involvement. You can read it here (scroll down to the “read the issue” button).
Third, you may have heard of the EveryLife Foundation, which was started by Dr. Emil Kakkis, who also founded Ultragenyx. EveryLife has been both a direct advocate for the rare disease community, as well as a mentor/trainer of patient advocates for the rare disease community. It’s probably best known for its work on Newborn Screening (not really an XLH issue, since there’s no way to screen newborns for XLH without full genetic testing), and research into the real costs of living with a rare disease (definitely an issue for XLHers!). I attended one of their training sessions, and found it very useful. It sounds a bit like I’m about to tell you that they’ve shut down, but actually I’m here to tell you the opposite: they’re rebranding, and sound more energized than ever. The new name is RARE Foundation, with RARE standing for “Relentless Advocates, Robust Evidence.” It looks like they’ll be doing essentially the same work, just with different branding.
Fourth, just something to watch for: I’ve been talking to a researcher who’s working on a patient survey about XLH and nutrition. It’s expected to launch later this month, and I’m hoping that all of you will participate in it. I’ll let you know when it goes live, so for now, it’s just a heads up that it will be coming soon.
Fifth, it’s not often that XLH gets mentioned in a general-interest publication, but there’s a page on XLH and Meniere’s in the current issue of Hearing Health. Scroll to page 41 for “What if a Rare Bone Disorder Could Help Explain Why Some People Develop Meniere’s Disease?”
And last (but not least!), you may remember my talking about the importance of the rare bone disease communities working together to share our commonalities. In that vein, our own Joyce Inman (prior board member of the XLH Network, and parent of a spontaneous XLHers) will be speaking at a “Skeletal Dysplasia Family Day” event at the zoo in Birmingham, AL on October tenth. XLH is a form of skeletal dysplasia, so if you’re in the area, you’re encouraged to attend! You can register here, and it’s free!
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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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