My birthday is next week, and since it’s a major milestone (old decade ends, new decade begins), I’ve been a bit introspective lately. Mostly about the various big changes in my life—what authors call “turning points,” where the protagonist hits a stumbling block and takes the story in a new direction). Looking back, I can identify two such turning points related to my XLH, breaking my life into three phases.
The first one, not surprisingly, was Ignorance, and lasted through my early twenties. I “knew” I had something called Vitamin D Resistant Rickets (yeah, clear evidence of my and my clinicians’ ignorance), and that it made me short and lopsided (one leg was slightly longer than the other) and very slightly bow-legged. I also “knew” that the condition wouldn’t need treatment once I turned eighteen, and that, while I’d always be short, lopsided, and bowlegged, there wouldn’t be any further health issues related to the VDRR.
During this phase, I pretty much never thought about my rare disorder, except when my height contributed to my failure to become a cheerleader, majorette, or marching band dance team member, all of which I tried out for, but never got past the first cut. At the time, I was still conflating my short stature with the entirety of my XLH symptoms, so, in a sense, I didn’t see my XLH as limiting my options, just the one symptom, if that makes sense. I didn’t consciously think of my limitation being related to a rare medical condition, so much as it was to something that a lot of people experienced (shortness), with or without a medical cause. That let me still think of myself as having very few limitations for my future, other than that I would be unable to have a career in fields, like basketball, that required height. (In retrospect, I think my height was less a factor than my aphantasia — inability to visualize literally — which makes it very difficult for me to memorize physical movements, like dance routines or tai chi.) At the time, I thought there were very few careers that required height, unaware at the time of the evidence that short people are often discriminated against, even in fields like the legal profession, where there’s no obvious need for height.
During the Ignorance phase, I pretty much ignored my diagnosis, and generally didn’t even see any connection between it and assorted challenges or failures in my life, and was totally unaware that I would need to adjust my expectations for the future. That changed in the next Phase, which I’ll call the Outrage phase that lasted about forty years, until around the time I started burosumab. During this period, I learned that I had all sorts of ongoing health issues (mainly osteoarthritis in my twenties, then the slowly accreting soft-tissue calcifications), and eventually pieced together that they were related to my VDRR, except it wasn’t really VDRR but XLH. I also learned that most clinicians, even at top-notch institutions like Brigham & Women’s, were clueless (in the early 1980s, my rheumatologist—yeah, wrong specialty, but they didn’t even realize that much—prescribed calcium instead of phosphorus). I also had to come to grips with the realization that there was no medical intervention that would alleviate my symptoms, and I had to just accept the ever-increasing pain, fatigue, and disabillity.
During this second phase, I did a 180-degree turn from believing my XLH had no real effect on my life, and instead I tended to blame everything on my XLH. Develop a headache? Had to be due to the calcifications in my neck due to XLH, when in reality, it was more likely to be allergy-related. Didn’t get the job I wanted? Had to be because I was short from XLH. (There is data proving height discrimination, but that wasn’t the whole story.) Obesity? The result of self-medicating my XLH pain with food and/or the consequence of avoiding exercise that exacerbated my XLH pain. Hives? Okay, that probably wasn’t even remotely XLH-related, but my father had an allergy to a weird filler ingredient in NSAIDs, so maybe I was reacting to the NSAIDs I took for my XLH pain.
With all that blame I was throwing around, there was also a lot of whining and “why me?” and anger and frustration and anxiety (especially around health care providers and expectations of increasing mobility challenges). (Talk therapy helped, giving me a time and place to whine, and I highly recommend it as a coping tool.)
You’ll probably notice from the blaming/whining I did that my phases roughly follow those that you’ve heard of for dealing with grief (although apparently those phases have been at least partially debunked). Ignorance is a form of denial, Outrage covers a lot of the intermediate steps, and now, finally, as I approach a new decade, I think—I hope—I’ve reached the Acceptance phase.
These days, I’ve got a bit more nuanced understanding, where I can acknowledge that some of the challenges I didn’t think were related to XLH actually were (my inability to run the mandatory lap around the track in high school gym class was due to XLH, not inherent laziness), and some things I blamed on XLH were really my own screwups (too much random procrastinating, rather than XLH fatigue slowing me down).
I’m not really sure how acceptance is going to affect my daily life going forward. I’ve gotten much better at acknowledging my limitations and letting people help me when I need it. (Although I still chafe against help that’s forced on me, without asking first, or despite my declining the assistance.) And I’ve gotten better at simply acknowledging my limitations and moving on, without going into a blue funk over them, which saves me a whole lot of wasted time being miserable!
Acceptance has also made me think about retiring, both from this volunteer work sharing what I know or learn about XLH, and from storytelling. But I enjoy both too much to quit them completely. At least just yet. It seems likely that I’ll experience at least one more phase after Acceptance, maybe in another decade, when I face down the next big milestone. I hope you’ll follow along with me as I find out what it will be.
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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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