Two recent webinars reminded me that I would really like to see medical-educational webinars (for non-health-professional audiences) sponsored more by patient groups, rather than by pharma. First, patient groups have a better idea of what patients/caregivers want/need to know about than pharma does (or can find out easily by engaging directly with patients/caregivers). They can…
Author: giniajo@gmail.com
Another burosumab anniversary
This week is the eighth anniversary of the FDA approval of burosumab (and the eighth birthday of my cats who were born the day before the announcement). Which means we’re coming up on the tenth anniversary of my starting on burosumab, and I’ll be talking about that in June before I go on my summer…
So many journal articles …
… So little time. I can’t keep up! Here are the highlights from a few that seemed particularly interesting. Height: There’s a new article, “Real-world Impact of Treatment on Growth in Children With X-Linked Hypophosphatemia” that suggests early treatment with burosumab will, in fact, lead to patients being taller as adults. The data on this…
The paradox of teams
Do you know what the plural of paradox is? I had to look it up, and sadly it’s just boring old paradoxes. I was really hoping for paradoci or paradocorum or something else a little interesting. Because in health care, especially in the rare disorder world, and even more especially for whole-life/whole-body disorders, there isn’t…
Broken record
Nothing about us without us! (I didn’t come up with that slogan, and I’m not sure who did, but it’s brilliant.) It looks like we need to shout it even louder, because it’s not being heard by researchers (and pharma). I recently told a researcher that there was a logic error in a survey, which…
The weight paradox
Excess weight can be even more problematic for chronic hypophosphatemia patients than for the general population, since we already have mobility challenges, which the excess weight can exacerbate. But those mobility challenges also make maintaining a health weight more difficult. Plus, just to really make it seem like the cards are stacked against us, there’s…
XLH and primary care, chapter one
This is Chapter One in the series about what the Primary Care Provider (PCP), rather than the specialist, needs to know about their XLH patients. To avoid repetition and keep the chapters from becoming unwieldy in length, I’ve posted the footnotes separately here. For the pediatric PCP The diagnosis and genetics of chronic hypophosphatemia are…
Footnotes
Since the material on XLH for PCPs and Aging with XLH in will be fairly long, I’m putting the footnotes here. Note that I’ve abbreviated the titles in some cases, rather than trying for formal citation format. Footnote 1: “XLH Matters 2022”Orphanet Journal of Rare Diseaseshttps://link.springer.com/article/10.1186/s13023-023-02883-3 Footnote 2: “XLH Matters: an evolving programme”Orphatent Journal of…
Alkaline phosphatase
Alkaline phosphatase (abbreviated to ALP or Alk Phos) is an important lab result for the chronic hypophosphatemia community, but you don’t see it discussed much, at least outside of the more advanced meetings of bone-metabolism specialists. It’s worth getting to know the basics though, so you can spot concerning lab results or you can reassure…
Blizzards & dental basics
I meant to talk about what PCPs need to know about XLH today, but it’s complicated, and I’m digging out from almost three feet of snow, so just a quick and simple (but I hope useful) post this week! Really good little podcast overview of the dental issues of XLH: https://www.drbicuspid.com/podcasts/article/15817596/what-dental-professionals-should-know-about-xlinked-hypophosphataemia I’m not much of…