Yeah, say that three times fast! (And wish me good luck with typing it a bazillion times in the following paragraphs.) So we all know that elevated parathyroid hormone (PTH) levels are common in the chronic hypophosphatemia community. They can be high even before starting treatment, although most often, the elevation appears to be triggered…
XLH BLOG
Good news, revisited
I hope you had a lovely, long Labor Day weekend (if you’re in the U.S., and if not, i hope you had a lovely regular weekend)! So in the hope of continuing the good vibes, how about a few tidbits of good news in the hypophosphatemia community today? First, I’m really impressed by how (relatively)…
Really good advocacy work
My natural inclination (reinforced by law school) is to look for problems in everything I read or observe. It’s a hard habit to break, but I try to remind myself to spend equal time supporting good work. So let me tell you about the Osteogenesis Imperfecta Foundation Europe (OIFE). Now, before you stop reading, yes,…
Recent journal articles
I’ve been thinking a lot lately about just how many medical-journal articles have been published in the last five years about XLH and/or the related chronic hypophosphatemias. Used to be, if someone needed an article about XLH, the only one I ever recommended was “The Clinician’s Guide to XLH.” (It’s still good as a basic…
Occupational therapy
Wait, don’t skip this post, because you think you don’t need occupational therapy (OT)! It’s not what you think! OT can help with any activity that “occupies” your time, not just the ones you get paid for. Think of it more like “Daily Activity Therapy,” instead of OT, and you’ll see why it could be…
What my father knew
When I queued up last week’s blog, it struck me that it would go live on my father’s birthday. Unfortunately, he’s no longer with us to celebrate the day, having died young, almost thirty years ago. It got me to thinking about how much has changed for me and the hypophosphatemia community since then. The…
The truth is out there!
One of the big challenges for rare-disorder patients is that even after we finally get an effective treatment, we still have an uphill battle to convince clinicians (and insurers) to prescribe it. Approval by the FDA (or the EMA in Europe) confirms that it’s basically safe and effective when used for the relatively short period…
Volunteers needed
The hypophosphatemia community is well aware of the prevalence of hearing loss (and other ear issues) among us, but very little is known about why so many of us have these symptoms. There’s been some research with the hyp mouse, but no significant human research that I’m aware of, at least not with respect to…
The future is here!
You know how I keep saying it’s time to learn the basics of gene therapy, because it’s coming at us fast? Well, I was wrong. It’s not coming; it’s here. Not for XLH yet, but I’ve gotten the impression recently that a lot of people don’t know that gene therapy is indeed happening now for…
Vacation & links
I’m on vacation the next two weeks, so to tide you over until I return on July 19, I’m sharing some links to a few of my favorite posts of 2023. They’re worth a second look (or first look if you missed them originally). But first, a quick addendum to my recent comments on pain…