Ronnie Sharpe (Rare Patient Voice) recently noted on LinkedIn that a lot of what is supposedly “patient-centered” is instead “patient-decorated.” That’s been my experience too often. Frequently people in the medical community claim to be all about being patient-centered or patient-focused, but when push comes to shove, and patients say something they don’t want to…
Author: giniajo@gmail.com
Pair o’ Parathyroid patients
Just as a matter of apparent coincidence, there were two case reports published recently on hyperparathyroidism (overly active parathyroid glands) in patients with chronic hypophosphatemia. Take together, they raise some interesting questions, which weren’t addressed by the case reports themselves. The first is: “A case report of X-linked hypophosphatemia combined with primary hyperparathyroidism.” I’ve mentioned…
Two universes of patients
It sometimes feels like the XLH community has a foot in each of two universes — one that’s moving forward with a life-changing treatment, and one that’s stuck in the past. And, really, the XLH community split into almost two different disorders in 2018 when burosumab started to become commercially available—one that consisted of patients…
Phosphorus and bone mineral density
There is a new and somewhat odd finding recently published from research looking to establish whether there’s a relationship between blood phosphorus levels and pelvic bone density in the general population, not XLH patients. They concluded, “These findings suggest that elevated serum phosphorus significantly increases the risk of fracture. … This negative correlation suggests that…
More consensus on XLH treatment
I’m starting to wonder when journals are going to stop publishing essentially the same article, over and over, on the topic of experts’ opinions about XLH treatment. I mean, it’s good to have consensus (especially when it mostly agrees with what patients expect from treatment), but it also feels like a waste of time and…
Only Questions in the Building
Sometimes I have answers for you, or at least hypotheses, but today all I’ve got is questions. I didn’t say they’d be cheerful questions! But those are some of the things I wonder about on the too-frequent nights when I can’t sleep. What are your XLH-related (or more general health care related) questions? *** Please…
Non-XLH research
One of the hacks for getting funding and attention for XLH research is to pitch its potential benefits for health care in general. So, for instance, the more we know about excess FGF23 levels in XLH patients, the more we understand FGF23 in general, and can apply that knowledge to, e.g., cardiac and kidney patients…
Taking action
I’m way overdue for sharing an action you can take to benefit the rare disorder community, and equally overdue for taking action myself. So today I’m asking you to join the National Organization for Rare Disorders’ “Living Rare” study if you live in the United States AND are an adult (18+) with a rare disease/disorder…
Birthday week!
My birthday is next week, and since it’s a major milestone (old decade ends, new decade begins), I’ve been a bit introspective lately. Mostly about the various big changes in my life—what authors call “turning points,” where the protagonist hits a stumbling block and takes the story in a new direction). Looking back, I can…
Where does FGF23 come from?
Sometimes I get a little too full of myself (okay, settle down; you don’t have to be that emphatic in agreeing with me) and think I know all there is to know about XLH, from the inside out (except for the advanced organic chemistry). And then I read something that makes me realize that I…