Tuesday, December 29, 2015

Message from Network President Becky Mock

It has been an honor and a privilege to serve as the President of the XLH Network for the past three years, but it is time for me to pass the gavel to someone else. I will be stepping down as president at the end of this year, although I will continue to work as an at-large Board member.

Current Vice-President, Bill Coogan, will be stepping up to the presidency. Many of you have met Bill and know, as I do, that he brings a great deal of dedication, skill, and personality to the organization.

Over the past few years, we've accomplished a great deal—the Board of Directors, the membership, and I, all working together. It has been my mission to transition the Network from an all-volunteer group to one with paid staff, and I am pleased to say that we have taken the first steps toward that goal.

During my tenure, two grants were funded by Ultragenyx Pharmaceutical, one to underwrite a substantial portion of the cost of hiring an administrative assistant, and the other to do the same to hire an executive director. The administrative assistant is in place. The process for hiring the executive director has begun, and I am confident that with grant funds available and the recruitment process underway, we will move forward and hire our first executive director in 2016.

I am proud that we have seen XLH Days become life-changing experiences, offering both educational opportunities with expert presentations about XLH, and fun times helping people with XLH meet "someone like me," perhaps for the first time ever. We know how important it is to bring XLH Day to all parts of the country. We’ve held events in New York, Connecticut, Indiana, and California. Work is well underway for the Texas XLH Day in 2016. We’ll get back with more information and a definite date as soon as we can get the logistics sorted out.

We cannot take a rest. We must forge on. The XLH Network is the ONLY organization that advocates for you and others with XLH. There is much more to do to maintain our new initiatives and advance our future projects. We cannot do all that is needed with the funds we have now. Our budget is tight, focused and designated for the work we're doing today. To maintain, we need your help. To grow, we need more donations and support. We are the best investment you can make if you wish to make a difference in the lives of everyone with XLH.

Finally, I would like to thank everyone that has volunteered or made a donation during my presidency. I'm counting on you to offer that same support to future presidents. Please help the Network continue to advocate for everyone with XLH and their families.

We can't do it without you!


Becky Mock, President

Tuesday, December 22, 2015

Happy holidays

The Board is taking a tiny break from year-end fundraising and our other duties to enjoy the holiday week (but it's not too late to make your donation here: http://xlhnetwork.org/index.php/donate/ ).

You can see our festive pictures in a card posted at our official Facebook page (facebook.com/xlhnetwork) and don't forget to like our posts there on a regular basis, so you'll keep seeing our information in your feed. (If you don't like/share/comment on one of our posts at least once a week, Facebook won't keep sending the posts to your feed.)

We'll be back next week, rested and re-energized (or frazzled, but still determined to do what needs to be done by the end of the year)!

Monday, December 21, 2015

KRN23 adult trials go global

There are a total of 29 locations for the KRN23 adult clinical trials across the globe now (some not yet recruiting, while they wait for local approvals, but you can contact them now to let them know you're interested when the location is fully set up), including eight in the U.S., two in Canada, one in Denmark, three in France, five in Japan, two in Korea, six in the UK, and one each in Denmark, Ireland, and Italy.

You can get all the details here (age 18-65, regardless of past treatment): https://clinicaltrials.gov/ct2/show/NCT02526160?term=xlh&rank=1

or here (age 25-65, no treatment in past two years): https://clinicaltrials.gov/ct2/show/NCT02537431?term=xlh&rank=2

As always, the XLH Network, Inc. does not endorse or critique specific clinical trials, and does not counsel individual patients either for or against participation in any specific clinical trial. Prospective volunteers should always carefully review the clinical trial's informed consent documentation, and discuss the pros and cons of their participation with trusted advisers, including their health care providers and family members.

Wednesday, December 16, 2015

Record-setting #GivingTuesday

We are excited to announce that this year we had our best #GivingTuesday in the history of the XLH Network, and this, of course, is due to the generous contributions of our members, family, and friends.

Including the Board’s matching funds, #GivingTuesday 2015 resulted in $10,465 in donations to the Network’s efforts. This is almost ten times the amount of money we raised last year for this day of giving back!

So, as we enter the chaos of the holiday season and look forward to 2016, we want to say thank you for your generosity. We are only as strong as our membership, and our membership showed up in full this #GivingTuesday, and for that we are very grateful.

Of course, it is not too late to give to the Network. If you have yet to make an end-of-year gift, we hope you will consider making a donation to the Network so that we can achieve all of our plans and goals in the upcoming years. https://donatenow.networkforgood.org/xlhnetwork?code=donate%20page

And do not forget that there are many ways to give: like our Facebook page, join us on Twitter, or encourage someone else to do so! Help us extend our reach so that every person with XLH has access to our wonderful community and to the latest information on coping with our disease.

Thank you again for your generosity. We are already preparing for 2016, and we can’t wait to share our plans with you. Plus, we're looking forward to new trials and treatments that may mean new opportunities for all of us. It is going to be a full year, and we are excited. We hope you are too!

Thursday, December 10, 2015

Pediatric KRN23 trials update

A recent press release from Ultragenyx Pharmaceutical contains encouraging results from the KRN23 pediatric clinical trials, including this quote from our Scientific Advisory Board member Thomas O. Carpenter, M.D.:

"The recent data from the KRN23 experience in pediatrics are compelling, with sustained improvements in biochemical and radiographic measures beyond those achieved in most patients with standard therapy. Gauging from this response, and the preferences of the patients and families themselves, the drug has great potential to change the treatment paradigm for XLH," commented Tom Carpenter, M.D., the lead investigator in this study.

You can read the whole press release here: http://ir.ultragenyx.com/releasedetail.cfm?ReleaseID=945146

Tuesday, December 8, 2015

Research into XLH adults' issues

Two news stories relevant to XLHers were included in the Quinnipiac University's magazine recently, and you can read them here: http://www.quinnipiac.edu/prebuilt/PDF/Magazines/QU_fall15/Quinnipiac_Fall_2015_Bracing-for-Impact.pdf

The first one is about a relatively new technique for leg-straightening surgery that was used on an adult with XLH to apparently good effect

The second one is about the gait, mobility and range of motion study led by our Scientific Advisory Board Chair, Carolyn Macica, PhD, and featuring member Marina Velazquez. 

Smaller-scale research like Dr. Macica's that can be funded via seed grants is something we'd like to support in the future, especially since governmental sources of funding are drying up. To do that, we need to increase our budget. Can you help with a potentially tax-deductible contribution during our year-end campaign? If so, please donate now: https://donatenow.networkforgood.org/xlhnetwork?code=donate%20page

Friday, December 4, 2015

Adult Clinical trials are recruiting

We just learned that the Phase 3 clinical trial of KRN23 for adults is recruiting now. You can get the details and contact information here: https://clinicaltrials.gov/ct2/show/NCT02526160?term=xlh&rank=1

U.S. locations are: California, Connecticut, Indiana, North Carolina and Texas.

The XLH Network, Inc. does not endorse or critique specific clinical trials, and does not counsel individual patients either for or against participation in any specific clinical trial. Prospective volunteers should always carefully review the clinical trial's informed consent documentation, and discuss the pros and cons of their participation with trusted advisers, including their health care providers and family members.

Wednesday, December 2, 2015

XLH in medical journals

The Journal of Clinical Endocrinology and Metabolism recently ran an article co-written by Scientific Advisory Board member Thomas O. Carpenter, MD, entitled "Conventional Therapy in Adults with X-Linked Hypophosphatemia: Effects on Enthesopathy and Dental Disease." You can read the abstract here http://press.endocrine.org/doi/full/10.1210/JC.2015-2199 The remainder of the article is behind a paywall, but your doctor will likely be able to access it if you provide that link. Also, the link will take you to instructions for requesting a copy from the publisher.

The conclusion of the article: "Treatment [with phosphorus and a vitamin D metabolite) in adulthood may not promote or prevent enthesopathy [calcification of soft tissues]; however, it may be associated with a lower risk of experiencing severe dental disease." J. Clin. Endocrinol. Metab 100: 3625-3632, 2015.

Accompanying that article was a commentary piece by another SAB member, Michale J. Econs, MD, entitled "Conventional Therapy in Adults with XLH improves Dental Manifestations, But Not Enthesopathy." Again, you can read a portion of it (and find instructions for obtaining a full copy) here: http://press.endocrine.org/doi/abs/10.1210/jc.2015-3229

While the conclusion (that conventional treatment of adults is unlikely to reduce the risk of enthesopathy) is less than encouraging, the good news is that the article and the commentary both document the fact that adults with XLH do, indeed, have ongoing symptoms, i.e., dental abscesses and enthesopathy. Getting this fact on record, in peer-reviewed, highly regarded medical journals is a slow process, but one that is critical for educating physicians who seldom see an XLHer and are unaware of the adult symptoms.

Tuesday, December 1, 2015

#GivingTuesday: Double the Hope!

#GivingTuesday is here! Help the XLH Network bring awareness about our disease to medical and patient communities all over the world by giving this holiday season!

Remember, if you donate to the XLH Network today at http://xlhnetwork.org/index.php/donate/, the board of directors of the XLH Network will match up to a total of $2,000 in donations.

Don’t forget your #unselfie! Take a picture of yourself holding a sign that mentions the XLH Network, #GivingTuesday, and being #unselfie! Let’s take this day to show faces of XLH to people all over the world. And for those of you who prefer not to take #unselfies, we have “I Pledged” graphics that you can use instead! You'll find them at our official Facebook page: https://www.facebook.com/xlhnetwork

And, of course, now is a great time recruit a new member! If you can’t give financially, you can give support. Help one of your friends or family members with XLH become a part of the XLH Network. Tell them to like our Facebook page or join our listserv.

Let’s make our voices heard this #GivingTuesday! We are our best advocates!