There’s a new journal article on Autosomal dominant hypophosphatemia that reports on one patient and collects the literature specific to that form of chronic hypophosphatemia. It’s useful to have the citations to the very limited relevant literature collected in one spot, but the article itself is problematic for the patient community (including both autosomal and…
XLH BLOG
Reliable sources
The XLH community is an enticing one for both legit research and scammers. Researchers have been fascinated by FGF23 ever since it was discovered by, among others, Dr. Michael Econs, a prominent XLH researcher (and I’m told that researchers into another rare bone disorder, fibrous dysplasia, were simultaneously involved in that discovery). Excessive FGF23 production…
Bright future
In recent years, with the development of a class of treatments called “monoclonal antibody,” a whole new world of treatment options has opened up, and much of that world is populated by rare disorders like XLH. A monoclonal antibody is an antibody (no kidding, right?) that’s is cloned from a single specific cell. It’s designed…
Words matter
This is a plea to all who write or talk about XLH (and the other genetic hypophosphatemias), including patients, clinicians, researchers, editors, and academics (and anyone else I’ve forgotten): update your terminology to reflect current understanding of the disorder. First, stop calling the various chronic hypophosphatemic disorders “a form of rickets” or “hypophosphatemic rickets.” These…
Standard of care
Lawyers use the term “standard of care” slightly differently from the medical profession, but in both cases, it refers to the bare minimum of care that one person owes to another to avoid liability. In the law, it’s usually based on a “reasonable person” test — what would a reasonable person do in the circumstances?…
Rare bedside manner
Patients pay the price when clinicians don’t treat us like human beings deserving of respect. The frustrating thing is, it’s really not that hard to do better. Along with the rule of “First, do no harm,” just follow the Golden Rule: “Treat others as you wish to be treated yourself.” In my experience, clinicians break…
What’s my story?
Some of you know me from the XLH listserv days when I was a frequent poster and also the subscription manager. But if you’re newer to the community, you may be wondering, who is this person who thinks she understands at least some of the XLH experience? So let me share a little of my…
Patient voice at ASBMR
Back in 2003, The XLH Network, Inc., made history by presenting a poster at the annual conference of the American Society for Bone and Mineral Research (ASBMR), entitled “Self-actualized Perceptions of X-Linked Hypophosphatemia Suggest a Pro-active role for Patient-Support Networks in Managing Patients with this Rare Metabolic Bone Disorder.” It was groundbreaking, since as far…
New research survey
The XLH community has been fortunate in recent years to have researchers interested in studying us, and if anything, the research opportunities continue to grow. I try to volunteer whenever I’m eligible, and I’ll highlight opportunities that I think are particularly interesting. Some research involves more travel than I can handle, but other forms of…
Canadian XLH Network
I’m trying to be mindful that not everyone with XLH lives in the U.S., and we’re stronger together, so I’ll be highlighting the best support/advocacy work I see, regardless of where it’s happening. I’m not currently affiliated with any particular patient group, but I’m a big fan of the Canadian XLH Network. They’ve only been…