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 mutation?” But then we get over ourselves and move on.
I’m also inclined to whine (only to my cats usually, and I’m making an exception to whine with you this once) about unfairness whenever I or anyone else with a rare disorder develops an unrelated significant health challenge. I mean, seriously, there ought to be a scientific principle, based on a fair universe, that if a patient has one serious disorder, they shouldn’t have to experience other major health issues. But, as noted, life isn’t fair.
Sometimes when an XLHer has a second significant condition, it leads to speculation about whether the additional one was somehow caused by the XLH. Some years ago, I read about two XLH siblings who developed severe, early-onset chronic kidney disease (CKD). At first, I was wondering if there was a potential link between their CKD and the XLH, perhaps not an intrinsic one, but due to overly aggressive phosphate supplementation that had damaged the kidneys (causing calcification to the point of rendering the kidneys dysfunctional). The situation was confusing, because we know that our kidneys are where the phosphate-wasting occurs, so it’s easy (but wrong) to think that our kidneys are intrinsically defective in some way. (Our kidneys, absent damage from treatment or some other cause, are fine; when they waste phosphate, they’re doing it because of a bad signal from the bones/parathyroids, not because of something inherently defective about the kidneys themselves.) But eventually it became clear that the patients with the bad kidneys had two independent health conditions: the XLH plus an unrelated family disposition toward kidney disease.
A double whammy like that is definitely unfair, right? And yet it happens, and we whine, and then we pick ourselves up and move on.
Other secondary conditions are easier to discount as just being bad luck, clearly unrelated to the XLH. I’ve had an autoimmune thyroid disorder for many years, which clearly has nothing to do with my XLH (the parathyroid glands are affected by XLH, but they are separate organs from the thyroid glands, which, to the best of my knowledge, are not part of phosphate regulation and therefore are unaffected by XLH).
Once diagnosed, my thyroid condition was easy to treat, so I had very few “it’s unfair” days related to it. But now I have a more significant, unrelated second condition that seems totally unfair: heart disease. I’m currently recuperating from cardiac bypass surgery. And ever since my heart issues first came to light in late May, I’ve been whining to my cats a lot about how unfair it is that I apparently inherited a disposition for heart disease from my father (by way of both of his parents), when I’d been hoping to inherit my mother’s healthy-heart genes.
My surgery was successful and the recovery is progressing shockingly well (sometimes the XLH high pain threshold comes in handy!), but I’ve been advised that I’ll be tired and a bit brain-foggy for pretty much the rest of the calendar year, and there’s no way to judge one’s own level of brain fog. So, if there are glitches in the queued-up blog posts and newsletters over the next couple of months, or you reach out to me and don’t get a quick response, it’s because I’m still recuperating. I’m hoping to be back to something of a reliable part-time routine for both my fiction writing and my patient advocacy, by early November, but we’ll just have to see just how good burosumab really is at healing surgically broken breastbones!
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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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