What we've been up to

Much of the time, we're focused on the future -- what we've got planned, what we anticipate will affect the community going forward, and preparing you for the challenges we're all facing as we work to improve the lives of XLHers and their families.

This week, though, even as we're busy putting the final touches on XLH Day, we'd like to take a moment to review what we've accomplished so far this year:

The Natural History Study's initial beta version is complete and IRB-approved, while the more extensive, Phase II disease-specific questions have been compiled and reviewed by experts in the medical community. By the time the study is complete in ten years, we expect that there will be questions (and answers!) for as many as a dozen categories of symptoms/treatment. You can imagine the work it took to come up with comprehensive questions that were approved by the experts as using the correct terminology, while also being comprehensible to non-scientists like us. We are also working on forging collaborations that will allow the study to be even more user-friendly and comprehensive for our patient community.

Our book, Weak Bones, Strong Wills, the Stories of XLH, which was two years in the writing/editing/publishing (and more like five years in the planning), is ready for release on October 6th. As far as we can tell, it's the first and only widely published book of rare-disease patients' experiences written by the patients themselves, rather than filtered through the words of health care providers. We'll have links soon so you can get your own copy or send them to friends/family.

XLH Day this year has the most ambitious schedule ever, building on the experience we've gained during previous events.

Two board members and the Executive Director attended the annual conference of the American Society for Bone and Mineral Research (ASBMR) in Denver Colorado earlier this month, interacting with the people who have the expertise necessary to find a true cure (as opposed to the intermediate solution of an effective but ongoing treatment) for XLH (and the related phosphate-wasting disorders like Tumor Induced Osteomalacia).

We published a new and updated (to include information on FGF23) dental flyer for medical professionals. You can download it here to share with your dentist or oral surgeon: http://xlhnetwork.org/files/2015/0362/1533/DentalProBrochure_082417.pdf

We'be been keeping a close eye on the governmental review of KRN23/burosumab as the clinical trials are ending, data is being released and applications are filed with the European Medicines Agency and the U.S. Food & Drug Administration. If you missed any of this information, you can find the collected press releases at our forum here: http://vps.xlhnetwork.org/~xlhforum/forum/index.php?topic=228.msg357#msg357

That work was all in addition to the routine (but oh so necessary) work of maintaining our website, keeping the forum and social media filled with useful information for you, and making sure we have the funds we need to keep going, not just for the next few months but for the long term.

As if that weren't enough, we've spent countless hours on several major projects that aren't quite ready to be shared. Often, ideas that are generated during strategic planning, board meetings or conferences can take months or even years to come to fruition. We expect at least a couple of them to be revealed during XLH Day weekend, so stay tuned!

We're working hard, and there's never enough time or money to do everything we want to do. Still, we'd love to hear from you about additional projects you think we should be working on. And if you'd like to help, either financially or with your time, you can donate here. Or contact our Executive Director, Carol LaFleur, about other ways you can help, ExecutiveDirector@XLHNetwork.org .