Some of you know me from the XLH listserv days when I was a frequent poster and also the subscription manager. But if you’re newer to the community, you may be wondering, who is this person who thinks she understands at least some of the XLH experience?
So let me share a little of my background. I have a spontaneous case of XLH (spontaneous mutation, not inherited from my taller-than-average parents). I’m ancient, so I’ve lived through all the iterations of diagnosis/treatment that have been available for us. When I was first diagnosed at age three, doctors still thought it was a vitamin D problem, and I was given mega-doses of inactive vitamin D (in liquid form — blech), which, fortunately, didn’t kill me, but also likely didn’t do me any good either. My childhood symptoms were relatively mild, and like many patients, when I reached 18, I was told I was done, no further treatment needed, no further symptoms expected, go have a good life.
I somehow initially missed the major advances in the late 1970s and early 80s, when science figured out the actual problem was phosphate-wasting, and so didn’t get any treatment then, probably too distracted by my education and starting work as a lawyer. It wasn’t until around 2000 when I first realized the disorder wasn’t just a pediatric one and my body was falling apart (or, more accurately, painfully turning to stone), so I needed to understand what was happening to me. I quickly got caught up on the science, reading everything I could find about XLH, which wasn’t much at the time. I practically memorized A Clinician’s Guide to XLH, which now is largely obsolete.
Since the then-existing science raised more questions than answers, I turned to the Network’s listserv to hear more from other patients and years later, I compiled and edited Weak Bones, Strong Wills to document some of their stories directly from the patient (and caregiver) perspective. To the best of my knowledge, the book is the first ever published collection of narratives that come straight from the patients, rather than filtered through a clinician’s perspective. It’s the first such book, not just about XLH, but about any medical condition, since most published “patient” stories are actually written by a clinician about the patients, not by the patients.
I was also involved behind the scenes (and before the camera with my own testimony) with the Symposium on Hypophosphatemia and writing the Voice of the Patient report from that Symposium, where I soaked up more patient experiences (and like with the Clinician’s Guide to XLH, practically memorized the material).
After all that engagement with the community, when I talk about the patient experience, I can share more than just my own experience. I don’t have significant hearing loss or tinnitus, but I know how widespread they are in the XLH community, and how much those symptoms affect XLHers’ daily life. I’ve never had orthopedic surgery, but I have heard story after story of XLH-related surgeries, both successful and not, that I now share when asked about the challenges we experience. I’ve never taken opiates for pain, but I can empathize with the stories of XLHers who have needed them, and can explain them to clinicians and researchers.
Often, it’s not the individual symptoms I need to explain to clinicians and researchers, but the big picture of what it’s like to live with a disorder like XLH that affects practically every cell in the body, with symptoms that affect bones, teeth, muscles, kidneys, nerves, hearing, and energy (fatigue), AND, as if that’s not enough, all of those symptoms are progressive and will — not may, but will — get worse over time without effective treatment.
What is difficult for non-patients to fully grasp is that it’s not any one symptom (or, in our cases, it’s not any three or four symptoms) that threatens to defeat us, it’s the full array of symptoms and the chronic, neverending, progressive nature of them. They feed off each other too, with pain making the fatigue worse and fatigue making us less able to cope with the pain. It’s the impact of many interwoven symptoms and their progressive nature that I can speak to from direct experience!
Not to whine (okay, a little), but to share the extent of the symptoms/challenges I have experienced myself, I have: calcification and arthritis with limited range of motion in all my major weightbearing joints (hips, knees, ankles, shoulders, elbows, wrists), spinal stenosis (calcification within the spinal canal), ossification of the posterior longitudinal ligament (the rubbery ligament that keeps the vertebrae in place while allowing the spine to twist and bend, has essentially turned to bone), widespread (but fortunately mild) bone pain, fatigue, and occasional nerve pain. I have been condescended to, disbelieved, non-diagnosed, misdiagnosed, given useless treatments (vitamin D and calcium), sent for unnecessary tests, told there was nothing that could be done to help, told I was drug-seeking (even as I said, “Please don’t give me opiates, because I don’t react well to them.”), told I was wrong about both science and my lived experience, and told I was imagining the pain.
So now you know a bit more about who I am. Over time, I hope to learn even more about other patients’ and caregivers’ stories, and to share them in future posts. If you’d like to be featured, send a note to Gin at ginjones.com with a bit about you and what aspect of your experience you’d like to share.
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As always, the author is a well-read patient, not a doctor, and is not giving medical or legal advice.
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