Last week, I shared some XLH-related highlights from last year, and now it’s time to start thinking about the coming year. My plan (I always have a plan; executing it is the challenge) going forward features two different issues that I expect will each generate a series of monthly posts that I hope you’ll find interesting.
The first series will be about the standard of care for XLH, sort of like the old ABCs of XLH, but using quotes from the various journal articles reflecting the growing consensus for XLH treatment. At the end of the year, I’ll compile them into a handout you can share with your (or your child’s) primary care provider if you wish, with citations to the relevant journal articles in case they want to do further reading.
Second, I’d like to explore a topic that has not shown up in journal articles yet—the issues related to the second transition that XLHers (and their families) go through. I’ll be talking about the one from regular adult to geriatric treatment, not the better understood one from pediatric to adult treatment. This series will be mostly anecdotes and questions and speculations, since there just isn’t any published information about XLH in old age. I’d love to hear of your experiences with this second transition, including any challenges you faced and any tips for dealing with it.
In addition to these two series, I’ll also be talking about all the usual stuff, like new journal articles and ongoing research. There’s one study in France that looks interesting (but isn’t yet recruiting), searching for a better biomarker (something objective, not the patient’s subjective impressions) that can quantify treatment effectiveness. The study is called “ATP (Adenosine Triphosphate) Concentration Measurement by Phosphorus-31 Spectroscopy in Phosphate Diabetes.” (Some countries refer to XLH as phosphate diabetes.)
Phosphorus levels alone aren’t all that useful for measuring effectiveness of treatment, because some of us have (barely) normal levels of phosphorus even without treatment, and where we fall in the normal range during treatment isn’t necessarily a good measure of how well our bones are mineralizing, or how well the phosphorus is getting to our muscles. The fuel for muscles is ATP, and the P stands for phosphorus, so it makes sense that our muscles are somewhat dysfunctional. But no one really understands the dysfunction or even, I believe, how to measure it. This study intends to fill that gap a little to better understand how our muscles work and how the dysfunction might be measured.
The description for the study is a little deep into the science weeds for me, so I can’t explain much more than that. It feels a bit open-ended, something of a fishing expedition, which isn’t a bad thing in a situation where there isn’t already a lot of data. That’s some of what I find so exciting about scientific research—the researchers are open to whatever the data they collect tells them, and they don’t know what it will be! Perhaps they’ll stumble across a real breakthrough in understanding the more amorphous muscular symptoms we experience and that are often ignored by clinicians and regulators.
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Please note that the author is a well-read patient, not a doctor, and is not offering medical or legal advice.
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