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…
XLH BLOG
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…
ABCs of XLH, revisited
Back before the FDA approved burosumab in 2018, I did a series called “The ABCs of XLH” for the XLH Network. Since we’re coming up on XLH Awareness Day (June 23 in the Americas), I thought I’d revisit the series to see what I might do differently if I wrote it today, five-plus years later….
Pain scales
Most patients hate the pain scale, especially those of us who live with chronic pain. We’ve learned to ignore a good chunk of our pain, and what would be catastrophic for people who do not live with chronic pain is just another day for us. Which doesn’t make us special or heroes or warriors; it’s…
Terrible, horrible, no good, very bad treatment
We’re a few months past the fifth anniversary of the FDA approval of burosumab for treatment of XLH, which got me to wondering about when the medical community will catch up to the fact that the pre-burosumab treatment regimen does not work. (Slight exaggeration, but necessary to move the needle, I think.) It’s beyond time…
Patients on strike
If you’ve been reading my stuff for a while, you know that that I encourage everyone to get involved in (ethical) medical research, both when it’s pure science (no clear benefit to the volunteers) and when it’s interventional research (where a treatment might benefit the volunteers). I’ve done both kinds, and the researchers and their…