Wednesday, September 27, 2017

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:

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:

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, .

Wednesday, September 20, 2017

KRN23/burosumab trial data presented at ASBMR

Some data from the clinical trials of KRN23/burosumab were shared with clinicians and researchers during the recent conference of the American Society for Bone and Mineral Research. Dr. Karl Insogna presented about the treatment of adults, and Dr. Michael Whyte presented for pediatric issues. 

The data were summarized in an article by MedPage Today, which you can read here:

Of particular interest is the lack of significant adverse effects reported in the adult study, as reported by MedPage Today:  

"The safety profile of burosumab was similar to what was seen for placebo, with no serious drug-related adverse events and no events leading to study discontinuation.
"We conclude that burosumab represents an exciting new therapy for XLH," Insogna said."

And for the pediatric study, as reported by MedPage Today, the improvement in the rickets score (lower is better), even though at least some of the patients had previously been treated with the current therapy (phos and calcitriol): "the most substantial improvements [in rickets scores] being seen for children who had more severe rickets (RSS of 1.5 or higher at baseline). In that subgroup, RSS decreased from a baseline score of 2.46 to 1.01 .... "

Also, side effects in the pediatric study were considered either insignificant or unrelated to the new treatment: "Renal function remained normal and there was no evidence of ectopic mineralization of the myocardium. The most common adverse events were transient injection site reactions, and only one child had a serious adverse event, which was considered unrelated to the therapy. "The favorable benefit-risk profile of burosumab holds promise for long-term outcomes for these children," Whyte concluded."

Monday, September 18, 2017

XLH Day Registraton is Closed

XLH Day Registration is now closed. Attendees will receive an email in the next two weeks with last-minute information about the event.

Saturday, September 16, 2017

Final reminder for XLH Day

This is it -- just one more day to register for XLH Day at Registration closes at midnight Eastern time on Sunday, September 17th.

Wednesday, September 13, 2017

Last chance to register for XLH Day

Registration for XLH Day closes this coming Sunday, and you won't want to miss it! Register now at

We'll be making some big announcements during XLH Day, with opportunities for you to make your voice heard in the medical and regulatory communities about the needs of XLHers and their families. We'll also be launching our book, Weak Bones, Strong Wills, the Stories of XLH, so attendees can be among the first to get a copy! Some of the contributors to the book will be attending, so you can even get it autographed if you wish.

We've already got more people registered than for any previous XLH Day, and more educational sessions are scheduled than ever before. The morning workshops cover physical therapy, dental issues, education plans, genetic counseling and othopedic foot care. The afternoon will be more focused on new treatment possibilities and a general Q&A session where you'll be able to ask the experts general questions about XLH.

Don't think it will be all work and no play, making XLHers dull! We've incorporated some fun events, like a game to test your knowledge of XLH, and we've built in lots of time for you to get to know other members of the XLH community on Friday and Saturday evenings. There will also be additional social opportunities on Sunday morning during the 5K walk/run event.

Most of the Network's board and staff will be at the event, and we hope to meet as many members of  the XLH community as possible on October 6-8. See you then!

Wednesday, September 6, 2017

Explaining about life with XLH

Labor Day in the United States is dedicated to the achievements of American workers, but it's often celebrated with family and friends as opposed to co-workers. 

If you live in the United States, odds are you had a barbecue or other get-together this past weekend. If so, you may have experienced either the loving support or the bewildered confusion of your family/friends with respect to XLH. 

Even if you have a supportive community, you may still be reluctant to talk too much about XLH for fear of coming across too negatively. And if you're surrounded by a less supportive community, you may struggle to make them fully understand the complicated medical explanations for your lived experience. Or sometimes it's just too exhausting to keep all the terminology straight, so it's easier to just brush off any questions. (Seriously -- who but a scientist or an XLH patient would ever imagine that calcitriol refers to a hormone made out of vitamin D and not to anything related to calcium?) 

Whatever your circumstances, if there are people around you who want to know more about XLH, who want to discuss how best they can be supportive, or who want to see the proof of what you describe as XLH symptoms/treatment -- we've got a suggestion: send them to our forum

Some of the information at the forum is open to the general public, other sections are open to family/friends, and others (the most personal discussions) are limited to those most directly affected (patients and the parents of minor patients). We encourage extended family members and friends to join, so they can read the FAQs about the condition and get links to news and journal articles. Doctors and other health care professionals are encouraged to join as well.

So, the next time someone asks how they can learn more about your XLH or insists that XLH is just for kids, send them our way. The forum will set them straight!