When I queued up last week’s blog, it struck me that it would go live on my father’s birthday. Unfortunately, he’s no longer with us to celebrate the day, having died young, almost thirty years ago. It got me to thinking about how much has changed for me and the hypophosphatemia community since then.
The most striking change is that my father died before either of us realized I would have progressively disabling symptoms from my XLH. The XLH Network hadn’t been organized yet, either informally (the listserv) or formally (incorporation as a non-profit/charity). All we knew is that I was short, I had some mild bowing of leg bones, and I had a bit of arthritis. But I thought that was the sum total of the purely pediatric bone disorder I’d supposedly had, and I was anticipating an active and healthy future.
At the time, neither of us had ever heard of “X-linked hypophosphatemia,” and we didn’t know I had a phosphate-wasting disorder instead of a vitamin D disorder. Dad died before the internet was a commonly available resource, so I had no way to connect with other patients (I have a spontaneous case, with no relatives to prepare me for what was to come), and no way to look for medical information other than by asking my clinicians, who knew absolutely nothing about “Vitamin D resistant rickets.” Now, I have an abundance of resources and have become a resource myself!
The old treatment for XLH (phosphorus and calcitriol) had been developed by 1980 or so, well before Dad died, but in yet another example of the seventeen-year statistic (new medical developments take, on average, seventeen years to go from discovery to widespread adoption by clinicians), I was still being advised fifteen-ish years later to take calcium, not phosphorus. So in the 30-ish years since he died, we’ve gone from hardly anyone knowing about phosphorus/calcitriol treatment, to its becoming the standard, and now to its being replaced by a truly effective new treatment, which is going through its own seventeen year delay in widespread adoption.
One other big change in those thirty years was the discovery of Fibroblast Growth Factor 23 (FGF23), the hormone that regulates phosphorus levels. When Dad died, the consensus was that the endocrine system consisted solely of a handful of organs and glands. With the discovery of FGF23, and the realization that it was produced by the bones, we now know that the skeleton is actually part of the endocrine system. (That fact is apparently still stuck in the seventeen-year-average delay, some twenty-three years later. If you look up “endocrine system” online, perfectly solid resources like the Endocrine Society don’t include the skeleton in diagrams or basic summaries. Wikipedia — I know, not always reliable, but usually gets the basics right — doesn’t even acknowledge the bones’ role in the endocrine system.)
I’m somewhat more tolerant of taking a longterm view than most people are, perhaps because of my experience as a lawyer. Legal professionals tend to experience time differently from non-lawyers. We consider an “expedited” timeframe to be two or three years in a civil case, while a “speedy” trial date could be a year or more down the road. When a lawyer says they’ll get back to you “soon,” it could mean a month or more, not the 2-3 days that’s considered the maximum polite time to respond to an email.
As a patient, though, if you’ll excuse the pun, I’m far from “patient.” That damned seventeen-year statistic gets me every time. But sometimes it’s good to stop and see that progress is happening, even if it’s so slow as to be invisible in the short term. Science, like the legal profession, moves slowly, but it does move, and it can accomplish great things.
What are you hoping will be accomplished for the hypophosphatemia community in the next thirty years?
***
Please note that the author is a well-read patient, not a doctor, and is not offering medical or legal advice.
If you’d prefer to read this blog as a newsletter, sent straight to your inbox, please sign up here.