Researchers are finally taking seriously the symptom that many, but not all, XLHers experience, and that has a major adverse effect on daily life: hearing loss. There are now two published journal articles discussing research (in mice, not humans) on the bones in the ears, which (if I’m reading it right, and remember, I’m not…
XLH BLOG
Post-surgical hypophosphatemia
Did you know that surgery can trigger a drop in phosphate levels in your blood, and it can happen to anyone, not just XLHers? It’s seen in high percentages of patients after general surgery, liver surgery, and cardiac surgery. See “Hypophosphatemia following open heart surgery: incidence and consequences” in the European Journal of Cardiac Surgery…
International XLH awareness day
Saturday is International XLH Awareness Day, and the community needs you to do your part in letting the public know what it’s really like to live with XLH. The XLH Alliance has done the hard work, putting together informative graphics about the “best care” for XLH, taken from both medical literature and a survey of…
So unfair
I’m sure I’m not the only person with a rare disorder to think life is unfair in a number of ways. We all have days when we’re overwhelmed by our challenges and think “Why me? Why did I have to get this stupid genetic mutation?” Or “why did my kid(s) have to get this stupid…
Random thoughts
I try to present a coherent argument when I publish my XLH essays, with a theme and logic and conclusion, sometimes even a call to action. But I also have some random thoughts about the XLH life, thoughts that are still forming, perhaps going nowhere, but perhaps just waiting for additional insights that would inform…
Reading the science
So, you’ve read everything you can find about XLH at various reliable websites, but you want to know more. One option is to read what your health care providers are (or aren’t) reading about current research and the overall scientific understanding of XLH. But perhaps you don’t know where to start, so here’s a quick…
Coding for the future
We’re in the really early days of artificial intelligence (AI) being used extensively in health care, and while I can see some great potential, I worry that it’s all built on flawed assumptions. Research by AI often depends with billing codes, known as ICD codes (the most current of which are known as ICD10). There’s…
Autosomals get some attention
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…
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…