The XLH community has been fortunate in recent years to have researchers interested in studying us, and if anything, the research opportunities continue to grow. I try to volunteer whenever I’m eligible, and I’ll highlight opportunities that I think are particularly interesting.
Some research involves more travel than I can handle, but other forms of research can be done from the comfort of my home, answering questions online, and that’s valuable too. A few years ago, Ultragenyx sponsored what it called the “Burden of Disease” survey to get a better understanding of XLH while it was in the early stages of developing burosumab and creating its clinical trial protocols. I suspect some of the data surprised them, things that we patients knew, but that hadn’t been collected from us in ways that the medical community recognized before that study. You can read about the results in a journal article, “The Lifelong Impact of X-Linked Hypophosphatemia: Results From a Burden of Disease Survey.” It was truly groundbreaking work, the first time, to my knowledge, that the full nature and extent of our symptoms, especially the ones experienced in adulthood, were even touched upon in a medical journal.
There’s a new opportunity to be heard in a study being done at Quinnipiac University. I’m not affiliated with the research in any way (other than having answered the questions), but it looks extremely valuable. Doing the survey only takes a few minutes, can be done at home on your computer (or phone, I believe, although I did it on a desktop), and if you wish, you can opt into being interviewed on Zoom later on (but you don’t have to commit to that additional time). Please note that, for a variety of legitimate reasons, this study appears to be limited to XLH patients only (not autosomal versions or TIO), so my usual inclusionary language doesn’t apply here.
The benefits of gathering this research are obvious — to increase the medical community’s understanding of the patient experience. We take certain things about living with XLH for granted, and we know they’re true, but until our stories get transformed into data through a survey like this one, the medical community has difficulty hearing our truth. The more our stories are turned into data, and the more data points that can be gathered, the easier it is to get the medical community to listen.
The only down side that I can think of for participating in the study is that, for me, at least, any time I have to reflect on my experiences, it can be a little emotionally draining. One of my usual coping tools is denial of my challenges, pretending they don’t exist, so having to answer questions about my symptoms or experiences requires me to reflect on less-than-pleasant moments. But I think that brief, temporary discomfort is vastly outweighed by the potential benefits for the patient community as a whole, helping to bring about a future when patients who may not have to go through some of the negative experiences once the medical community is better educated on the full extent of our challenges.
So I hope you’ll consider participating in this and future research! There are many XLHers doing patient advocacy now across the globe, but we can’t do it alone. We need your voices, your participation in research, to make sure we’re all heard.
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Please note that the author of this blog is a well-read patient, not a doctor, and is not offering medical or legal advice.
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