The patient-written article about XLH (also relevant to the autosomals and TIO after it’s diagnosed and resistant to surgery) is live in preprint format (may contain some typos and formatting issues)! You can read “Whole Body, Whole Life, Whole Family: Patients’ Perspectives on X-Linked Hypophosphatemia,” online before it’s published in print.
The authors are Amber Hamilton (patient and, as of a few weeks ago, an MD about to start an orthopedics fellowship), Susan Faitos (patient), Athina Kinsley (patient), me (patient), E, Michael Lewiecki, M.D. (metabolic bone disease specialist), and Rupal Gupta (Ultragenyx Medical Affairs).
I hope you’ll read it when you have some time to give it your full attention. It’s a bit heavy on the medical jargon, because its intended audience is the medical community. (When adding material to the drafts, I tended to use simple, layperson terms, and then Amber and Mike would, quite rightly, change my language to be more formal, in keeping with the expectations of the journal’s regular readers, which made for great teamwork.) But even given its intended audience, I think the article is very readable even for laypersons.
Eventually, I’ll ask you to share it with everyone who might possibly be interested in it, but it’s probably better to wait a few weeks until the typos are fixed and it’s in the final format. You know I’ll share the link when I have it!
For now, I hope you’ll read the article and let me know what you think. Is there anything you hadn’t thought of before? Anything we missed? Anything you plan to discuss with your doctor in light of the article? If so, please let me know by sending a note to Gin at GinJones dot com.
And here’s something else to look forward to. I just heard that the same journal will be publishing another XLH article soon, “An Evidence-based Physical Therapy Prescription for Adults with X-linked Hypophosphatemia,” based on research done at Quinnipiac University a couple years ago. Some of you may have seen a presentation based on the research during the 2020 virtual XLH Day (available at youtube here). I’ll let you know when the article is available to share with your physical therapists (and primary doctors and everyone else).
I’d like to acknowledge the help we received on the patient perspective article from Ultragenyx, and especially from then-employee Kim Cohee for making this possible. Kim put together the team of authors, and Ultragenyx hired the professional medical writers who took our words and ideas and the general message we had, and helped us turn them into a polished argument about the importance of treating XLH as a whole-body, whole-life, whole-family disorder.
Also, we owe a shout-out to Elizabeth Olear, MS, MA (Yale School of Medicine, New Haven, CT), and Marian Hart, BSN, RN, CCRC (Indiana University School of Medicine, Indianapolis, IN), who first developed the concept of “whole body, whole life, whole family” to describe XLH.
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Please note that the author is a well-read (and now well-published!) patient, not a doctor, and is not offering medical or legal advice.
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