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 .

Milestones on the way to our twentieth anniversary

In light of our anniversary, we're sharing a few milestones to indicate just how far the XLH community (including those with other related phosphate wasting disorders) has come in those twenty years.

The Network was founded in 1996. That was four years before the discovery of FGF23 (the hormone that triggers phosphate wasting)!

Beginning in 2001, the Network has represented the XLH community at the annual conference of the American Society for Bone and Miner Research (ASBMR). You can see a poster the Network presented in 2003, explaining the importance of patient organizations, at our official facebook page, facebook.com/xlhnetwork

A membership survey in 2004 revealed that the listserv was reaching approximately 350 email addresses, which, when accounting for the number of affected family members, represented close to 900 people with XLH. We currently reach somewhere in the vicinity of three to four times that many email addresses.

The first XLH Day was held in 2011 in the U.S. and in 2012 in England. Since then, there have been events in Connecticut, Indiana, California and Texas. It's coming back to the east coast for 2017, with details to follow in the new year. We're looking into options for holding many more events, all around the world.

A Clinician's Guide to XLH was published in 2011, and has undoubtedly been of assistance to clinicians and patients alike. If you haven't already read it, you can find it here for free: https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3157040/

In 2015, the Network hired an administrative assistant, our first ever paid staff member. We're currently working on the search for our next paid staff member, an executive director, to start work in 2017.

Finally, the Network's corporate mission statement includes "foster[ing] the search for a cure." At the time the Network was incorporated, that seemed like something of a pipe dream, but now it's much more feasible. While a true "cure" is not yet on the horizon, a promising new treatment, KRN23, is on track for its developer, Ultragenyx Pharmaceutical, to apply for FDA approval in the U.S. in mid-2017, and comparable approval in Europe even sooner. We'll bring you updates as they're available.

We hope you're as excited about the next twenty years with the Network as we are. If you'd like to make a donation to help keep us going, you can do that here: https://donatenow.networkforgood.org/xlhnetwork?code=donate%20page

President's message: Celebrating 20 years of the Network

From the Network's president, Bill Coogan:

As we enter this season of giving and acknowledge twenty years of accomplishments, please help us continue to help you. Donate now:  http://xlhnetwork.org/index.php/donate/

Twenty years ago this summer, Larry Winger created a website to collect information on XLH and then was joined by others to form The XLH Network. The listserv began beta testing in November 1996, and roughly two weeks later, there were subscribers from England, British Columbia, South Africa, and the United States.

A lot has changed since then. We've grown from a community of just a handful of people to a network that reaches thousands of patients and their caregivers. We've gone from not knowing what causes the phosphate wasting to the discovery of the previously unknown hormone, Fibroblast Growth Factor 23 (FGF23). We once viewed the prospect of effective treatment as more science fiction than fact, and now we have a promising new potential treatment on the not-too-distant horizon.

It seems fitting that this anniversary year has been one filled with significant accomplishments. The Network's board has worked hard to maintain all the work of previous years: educating and advocating for the various stakeholders in our community—patients, families and health care providers—by attending medical conferences, sharing what we know about XLH and offering safe places, like our forum and XLH Day, for members to help each other.

Beyond that, though, the anniversary year has also seen some major new initiatives that will come to fruition between now and our twenty-fifth anniversary. The Natural History Study will gather data about the progression of XLH throughout the entirety of patients' lives. For the more personal side of the story, we're collecting stories from our community about living with XLH, for a book entitled Weak Bones, Strong Wills, The Stories of XLH. Several other publications are in the works, including an updated dental brochure and materials to help children of various ages understand their disorder.  

Much of this work is done by volunteers or funded by grants, but there are always uncovered financial costs. The Natural History Study is part of the National Organization for Rare Disorders (NORD) Natural History Program and is paid for in large part by an FDA grant to NORD. Still, the Network will need several thousand dollars a year to insure that the study can continue long enough to provide useful data. Volunteers have donated their time to produce our various educational materials, but we'll still need to pay for their publication. XLH Days are a great experience for those who attend, but again, they can't happen without financial support.

Major milestone: The Network's first employee

From Network President Becky Mock: 

Stacy Duck joined the XLH Network, Inc. this week as our first ever part-time virtual administrative assistant. She is a self employed grant writing consultant with extensive nonprofit management experience. 

Stacy worked for Western New York Developmental Disabilities Service Office in West Seneca, NY for a number of years and relocated to North Carolina in 2003. She was Program Coordinator at Central State of the Carolinas and received her BS in Human Development and Family Studies at UNC-Greensboro. Stacy served as Executive Director of Chatham Social Health Council in Siler City from 2008-2012. She led the Alliance of AIDS Service – Carolina in Raleigh, NC from 2012-2014, and stepped in as interim ED for Preservation Chapel Hill during the maternity leave of the ED.

Seeking free time to attend her son’s wrestling matches, Stacy decided to start her own business as a grant writing consultant. The position posted with the XLH Network caught her attention and she applied. With her outstanding range of skills, she was selected by the Staffing Committee to become our virtual administrative assistant.  Stacy lives in the same county as I do, but we had never met before. The position is virtual, but we can meet to work on projects if needed, an unexpected bonus.

Stacy is married to her high school sweetheart who is Executive Director of another nonprofit, WECAHN (Wellness & Education Community Action Health Network). Her oldest son will be graduating from the Culinary Institute of Virginia this spring and her youngest is a senior at Southern Alamance High School. He is a high school wrestler and she and her husband are avid fans. She enjoys spending time outside, fishing, camping and travel. The family loves their five dogs, five cats, and two prairie dogs. 

Welcome Stacy!

Becky Mock, President

XLH Network, Inc.