The lead scientist in charge of the Burden of Illness survey that we've been talking about (if you haven't taken it yet, consider doing it now by clicking here), Ali Skrinar, PhD, MPH, with Ultragenyx was kind enough to share with the Network's Board some preliminary information about what she's learned already from the responses to the survey.
We can't get into all the details, especially since this is just preliminary information at the mid-point of collecting data, but Dr. Skrinar is excited about what she's learning and finally having statistics to back up what we know anecdotally. It won't come as any surprise to an XLH patient that the data confirms that, as a group (and this is a generalization, with outliers, so it doesn't necessarily apply to everyone), we're shorter than most, we have more bone/joint pain than most, and we have dental issues.
No surprise, right, but this is the first time that we know of, where researchers had data to back this up, and scientists don't believe anything without data (or, actually, without multiple sets of data, but for right now, we're happy to have one set!). The plan is for this data to be published, so there will finally be a medically recognized resource that both medical professionals and patients can refer to.
Dr. Skrinar was thrilled by the response so far, but like us, she's greedy for more, more, more. The more data she has, the more confidence she can have in her conclusions and the more attention the medical community will pay to the survey results.
The data collection will end December 8th, so we're getting down to the final weeks. She'll be grateful for any additional responses whatsoever, but in particular, she'd like to see more responses on behalf of children. (Note that the early glitches reported with respect to filling out the survey for children have been fixed, so if you held off, there's no need to wait any longer.)
Dr. Skrinar also has on her wish list the possibility of hearing from more adult males, since significantly more adult females have responded than males. For years, it's been reported, both in personal conversations and in journals, that the symptoms may be more severe in male XLHers than female XLHers. While this survey doesn't directly address that issue, it's possible that getting more responses from XLH males will give researchers at least a glimmer of an idea of how to investigate that issue.
As always, the XLH Network, Inc. does not endorse or critique specific research surveys, and does not counsel individual patients either for or against participation in any specific survey. Prospective volunteers should always carefully review the research survey's informed consent documentation, and discuss the pros and cons of their participation with trusted advisors, including their health care providers and family members.