Notes from a guinea pig

Ever wonder what it's like to be a guinea pig? A few XLHers had the chance to find out a few weeks ago, when I volunteered for the Gait, Mobility and Range of Motion study led by SAB chair, Carolyn M. Macica, PhD at Quinnipiac University's Frank H. Netter MD School of Medicine.

The results of the study won't be available for a while, since the researchers need to crunch all the data and study the information. But the results should offer some basic information for understanding adult issues related to XLH and the various services (physical therapy or occupational therapy) that might be of use for professionals who can help improve our quality of life.

As described in the call for volunteers, the study had five pieces: diagnostic imaging, biomechanical data, a physical therapy work-up and an occupational therapy work-up. There were four volunteers the day I went, and we all agreed that the diagnostic imaging (x-rays, in particular) was the most challenging for us. X-ray beds are NOT designed to lie on for more than a couple minutes, and we were getting full-body x-rays, not just one or two quick images. All of us also agreed that it was worth the discomfort to make this information available to scientists who were genuinely interested in our issues.

The biomechanical lab was the most interesting, simply because it was something I'd never experienced before. It was similar to what is done to create video game characters, where an actor has sensors attached to his joints, and then he goes through a range of motions while cameras pick up the movement of those sensors. The computer can then create a figure on the screen, using the data from the sensors. They did essentially the same thing with the XLH adults in the place of the actors. Sensors were attached to our wrists, elbows, shoulders, spine, hips, knees and feet. Then we went through a series of normal, everyday movements (walking, standing after sitting, moving the knee, moving hands, etc.) while they were recorded.

We also spent an hour each with a social worker, answering questions about our experiences with XLH and how the condition affected us emotionally. And finally, there was a session with an occupational therapist, which involves more than just job-related issues, but also hobbies and basic things like being able to get dressed and take care of daily hygiene. I found it interesting that there's a trend toward asking the patients what WE care about getting done, instead of assuming that everyone wants the same help. For example, one person might care a lot about keeping her house clean (not me!) while another may not care if she can sweep and mop, as long as she can pursue a hobby she's passionate about, so the focus would be on what assistance might enable the pursuit of that hobby, rather than the assistance that would help with sweeping and mopping.

All in all, it was a fascinating experience, and so heartwarming. Patients with a rare condition can get a little cynical after dealing with doctors who, not entirely surprisingly, have never heard of XLH, don't quite know what to do with us and are too busy to really find out. The scientists we worked with -- and I heard this from the other volunteers too, so it wasn't just my impression -- were obviously interested in what we had to say, very grateful for our willingness to share our experiences and our physical data with them despite the discomfort it caused us, and incredibly understanding about our physical (and emotional) limits when we were simply unable to do some portion of the study.

The data-collection part of this study is over, but I encourage everyone to watch for future studies and consider participating in one. It's important work, and it can help the participants too, giving some relief, at least briefly, from the feeling that we're helpless in dealing with this disease.

Alternatively, if you haven't done it already, the Burden of Illness study sponsored by Ultragenyx Pharmaceutical, and which doesn't require you to do anything more than sit at your computer and answer a bunch of questions (in English or French), is still collecting data. You can find it here:  https://www.amihealthy.com/custom/ultragenyx/burdenofillness/burdenofillnesshome.aspx?SITE=XLHNETWORK