Life is interfering with all of my plans this week, as it does to everyone at some point, chronic illness or not, so I don’t have a fully thought-out post for you today. So I’ll just share a quick thought on medical research, inspired by this article: “Impaired Physical Performance in X-linked Hypophosphatemia is not caused by depleted muscular phosphate stores” from the Journal of Clinical Endocrinology and Metabolism.
The article is mostly too deep into the science weeds for my not-a-doctor/not-a-scientist understanding, but what I get from it is: 1. we’ve known for a long time that XLH causes muscle dysfunction beyond what could be explained by our warped bones; 2. these scientists thought it might be explained by lower-than-normal phosphate levels in the muscles (as opposed to the blood or bones), and 3. their research indicated that we have normal phosphate levels in our muscles.
I should note that it was an extremely small study, which affects the certainty of the conclusion, but let’s assume a larger study would produce the same results. And I don’t like their final assumption that if the phosphate stores in muscles can’t explain the dysfunction, then it has to be the patients’ own fault, but I’m not going to dwell on that today, because I don’t have the energy to be outraged.
Just looking at the objective conclusion, that “The content of phosphoric compounds within the musculature of XLH patients was not observed to be different from controls.” — Why should we care about this study?
Three reasons: First of all, it’s great to know that XLH is getting attention by researchers. For a long time, like between 1980 and 2000, there was practically no research into XLH, and then it blossomed with the discovery of FGF23. Scientists could move on to something new and shiny, so it’s reassuring to see that they’re still interested in XLH and FGF23.
Second, just as the discovery of FGF23 by XLH researchers revolutionized the understanding of a lot of other health conditions (especially chronic kidney disease), it’s possible that if science can understand why our muscles don’t work right, it might lead to more comprehensive understanding of muscle function across health care for everyone, not just us.
And finally, a negative outcome in research is (almost) as good as a positive outcome. Before this research, we knew the dysfunction exists, and we had an infinite number of possibilities for why. Now, we have one less possibility and can move on to other theories (not just the one that blames the patient).
Okay, so that last reason to care is a bit Pollyannaish, but in a crazy week, I’ll take any positivity I can find!
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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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