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!

Sincerely,

Becky Mock, President

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)!

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.

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!

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

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

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.

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.

#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!

Gratitude

The Network's Board of Directors is grateful for our members and their support (both financial and otherwise), which helps us to further our mission to promote XLH awareness and education for affected families, medical professionals, and the community at-large; to support physicians and other providers of medical care for better diagnosis and treatment; to create resources and a community for affected individuals and their families so they can understand and cope with the complications of the disease; and to foster the search for a cure.

May you all have a wonderful day tomorrow, filled with laughter, good food and the best of times with loved ones.

Giving Tuesday: December 1, 2015

Save the Date: #GivingTuesday is December 1^st!

The holiday season is in full swing, and everyone at the XLH Network hopes that you are enjoying your holiday preparations and activities! Each year, the XLH Network asks members to consider participating in #GivingTuesday, a global day dedicated to giving back to our communities.

This year #GivingTuesday falls on December 1, 2015, and we hope you will help us use this day of giving to bring attention to the XLH Network and the families for whom we advocate. There are three ways you can help us make #GivingTuesday a success this year.

First, you can GIVE, and this year, the board of directors of the XLH Network wants to match your gifts! Various board members have agreed to combine funds in addition to their annual gifts to match up to a total of $2,000 in giving! This means that every dollar you donate on #GivingTuesday will mean an additional dollar is donated for XLH causes that will benefit XLH families! You can help double the hope!

Second, you can participate in the #unselfie movement! Take a picture of yourself holding a sign about giving to the XLH Network and plaster it all over your social media on #GivingTuesday. Use the hashtags #GivingTuesday, #UNselfie, and #XLHNetwork and show your friends and family that you are choosing to give. 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

Finally, you can spread the word! #GivingTuesday isn’t just about donations. Recruit at least one member of your family who is not already a member of the XLH Network and ask them to sign up! The more members we can reach, the more we can do for our entire community.

The XLH Network Board of Directors is excited about partnering with our members to celebrate #GivingTuesday. Donate at http://xlhnetwork.org/index.php/donate/, and the board of directors will match your donations up to a total of $2,000! We can’t wait to update you on our progress, so mark your calendars for December 1, 2015!

A variety of videos

Some of the videos of the Global Genes Rare Patient Advocacy Summit are available now, for those who couldn't attend in person and would like to know more about the work that patient advocates and patient support groups are doing in the complicated worlds of research, drug development, drug approval and the funding for all this work. https://globalgenes.org/2015sessionsvideos/

At our own Youtube channel, you can see the XLH Day videos from 2014 (and we're getting close to having the ones from 2015 ready for upload). In addition, we have a "playlist" with links to the "Growing Up With XLH" video and the ones from the 2013 XLH Day and Quinnipiac. Thanks to a volunteer (thank you, Ann Lewis!), we recently compiled an index to the Quinnipiac XLH Day videos (in the first comment for each of the two videos), so if you don't have time to watch the whole thing in one sitting, you can find the sections that might be of particular interest to you. The indexes even have hyperlinks to take you to the exact spot in the video! Alternatively, you can see an abbreviated index of the two videos here, to get a general idea of what the topics are: http://www.xlhnetwork.org/index.php/what-is-xlh/xlh-day/xlhday2013video

In related news, there's an interesting non-Youtube video (so we can't add it to our playlist) about an XLHer who underwent a relatively new orthopedic surgery technique (hexapod external fixator): http://www.13newsnow.com/story/news/health/2015/05/06/breakthrough-surgery-takes-beach-woman-to-new-heights/26870247/

Message from the Network President

From Network President Becky Mock: 

What an amazing year for the XLH Network! We’ve accomplished so much in 2015, thanks to your support. We've hired our first-ever employee, an administrative assistant who will assist with the daily operations, allowing Board members and volunteers to do more for Network members. We've established a template for XLH Days, which will make it possible to hold events in different locations around the United States.

Other critically important efforts included participation in patient advocacy and medical research conferences, where we met with numerous patient advocates and activists with the unified goal of educating, networking, and sharing best practices. We have been instrumental in assisting with recruiting patients for clinical trials this year and with distributing the Ultragenyx Burden of Illness Survey documenting the pain and suffering people with XLH endure every day, which has not been done at this level before. (It’s still open. Add your experience to the survey if you haven’t already: https://www.amihealthy.com/custom/ultragenyx/burdenofillness/burdenofillnesshome.aspx?SITE=XLHNETWORK.)

We are at a critical time in the growth of the XLH Network. We must be present and visible in front of leaders of the orphan drug and disease community: National Institutes of Health, pharmaceutical industry, academia, and the FDA. Current clinical research trials for children and adults may hold the key to a promising treatment. Negotiating the lengthy FDA approval process and bringing a new treatment to patients are complicated activities and take persistence. Only at national events such as those listed above is everyone brought together to discuss the best methods of researching, diagnosing and treating rare diseases in the 56 countries in which we know our members live.

We must educate more medical professionals, especially pediatricians and dentists, about the symptoms of XLH. We need to find more ways for members to meet. And finally, we need to do more as patient advocates, raising our voices so patient centered outcome studies will be a mandatory part of all work done by researchers, clinicians, and the FDA. We must work together to make this happen.

As 2015 comes to an end, please consider making a donation to our year-end campaign: http://xlhnetwork.org/index.php/donate/

Please help the XLH Network continue to work on behalf of everyone with XLH, their children, and their families. We can't do it without your help. Thank you!

Five things for parents to do after a child's diagnosis

Hearing your child has XLH is a scary thing, especially if it’s the first child in your family to be diagnosed with it. Member Melissa Braswell is here to share what she learned when her child was diagnosed with a spontaneous case of XLH. Melissa describes herself as "the blessed mother of a joyful XLH patient who loves life and desires to bring people together."

First, make sure you've got a correct diagnosis. Our 20 month-old was initially simply diagnosed with rickets. We saw a pediatric endocrinologist who confirmed that she had XLH and not nutritional rickets.

Second, see a doctor with XLH experience. I’m so thankful our daughter’s pediatrician referred us to a pediatric endocrinologist, who had provided care to other XLH patients. If our child had been treated for nutritional rickets, the medication wouldn't have addressed her need for extra phosphorus.

Third, educate yourself. The XLH Network has a lot of great information about XLH. Do your research. Ask your child’s doctor questions and write the answers down. A nurse once told me, “Understand your child is not here because she’s sick. She is not a sick child. This is not a life threatening disease.” That helped calm all the emotions I was feeling at the time, like confusion, resentment, anger, denial, sadness, and self-doubt.

Fourth, prepare to be strong. You and your family can handle what lies ahead. For my family, the hardest part of this journey so far has been comments from people who have no idea what is going on in our daughter’s little body. Most of them are well meaning people, but as her mother, it just hurts my heart. I use moments like that as an opportunity to educate others who have never heard of XLH. I also share how blessed we are that it is a manageable condition, even though it can be trying at times. It gives me satisfaction and an opportunity to share how great our daughter is handling her condition.

Finally, get connected. It helps to know that we are not the only family going through this. I highly encourage joining the XLH Network! It is a wonderful support group full of people who can truly empathize with you. Beyond that, if you haven’t shared the diagnosis with family and friends, please learn from my mistake! We were so shocked by the news that our child had rickets that we didn’t know what to do with the information. We were trying to let it sink in, but I wish we had told our family sooner so they could have been there for us. After we told our family and friends, a weight lifted from our shoulders. They helped carry the burden during the most stressful time of the initial diagnosis.

Know you are not alone and with the help of family and friends and the XLH Network, your family can and will thrive!

Report from ASBMR

Members of the Network's Scientific Advisory Board were active at the annual conference of the American Society for Bone and Mineral Research (ASBMR) in Seattle this year.

SAB member Suzanne Jan de Beur, M.D., was the recipient of this year's Shirley Hohl Service Award at the conference. The award is given to an individual whose activities best represent the dedicated and unselfish devotion in service to the ASBMR and its mission and goals. The official press release is here: https://www.asbmr.org/Publications/News/NewsDetail.aspx?cid=0cb27ab8-0484-4ffe-a5be-0398bfcdd413#.VhhPaflVhHw  Network President Becky Mock and Treasurer Geoff Edelson were there to cheer her on.

SAB chair Carolyn Macica, PhD was on several panels, including one on a subject that many of us know a little too well, but is just starting to be documented in the medical community: "Pain Resulting From Unresolved Skeletal Disease Has a Significant Impact on the Daily Function of Adults with XLH."

SAB member Thomas Carpenter, MD, was also on several panels, including one with fellow SAB member Raghbir Kaur DMD, on the use of traditional treatment in LXH adults and its effects on enthesopathy and teeth.

SAB member Michael Econs, MD was also on several panels, although none were directly relevant to the XLH community.

Estate planning

Sadly, we've lost a couple of Network members this past year (not due to XLH!).The Board members were particularly touched by the fact that they had both thought about their final wishes in advance and arranged for donations in lieu of flowers be made to the XLH Network, Inc.

What about you? Have you thought about your final wishes? Not just the big things, like who gets the bulk of your assets and who will take care of your children if they're still minors. But also the smaller bequests and what you want for your memorial services.

If  you wish to leave a bequest to a charitable organization like the XLH Network, Inc., you will need to include it in your will. Your attorney can help you with the exact wording, but you'll need to provide our name and address for inclusion in the will: XLH Network, Inc., 911 Central Avenue #161, Albany, NY 12206.

Perhaps you're not in a position where you can make a donation in your will, but you'd like to designate the Network as the beneficiary of memorial donations. Instructions relating to the funeral generally do not go in a will, so all you need to do is let your family know your wishes while you're still in good health and of sound mind.

To make it easier for your survivors, which also makes it more likely that they'll comply with your instructions, you should make sure your family members have the exact name and address for any charities you wish to benefit from memorial donations. For the Network, you can refer them to our website's donation page, which contains all the relevant information on how to donate: http://xlhnetwork.org/index.php/donate/

We know it's not easy to think about death, but it's important, and waiting too long can result in your affairs not being handled the way you would have preferred. We hope that when you do make your final arrangements, you'll remember to support our work toward improving the lives of XLHers and their families.

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.

Patient engagement

"Patient engagement" is the hot buzzword in the medical science community these days. It refers to the revolutionary idea that patients ought to be consulted during the process of drug research, development and approval. Not just studied like lab rats, but talked to and asked about their issues that go beyond their x-rays and blood test results.

We're in the early days now of figuring out how to fold patient engagement into existing processes, both scientific and regulatory. As a result, it's a bit of a wild, undefined frontier for all the parties involved: patients, patient groups, researchers, drug developers and governmental agencies. The one thing we do know, however, is that we can't just take anecdotes to the researchers and drug developers and clinicians and regulators. Those anecdotes have to be turned into scientifically sound data, using scientifically sound models and methodologies. Which is even more complicated than it sounds.

Fortunately, there are several organizations working on the various challenges. Recently, Network board members attended events that addressed these challenges. The EveryLife Foundation For Rare Diseases (a nonprofit dedicated to "accelerating biotech innovation for rare disease treatments through science-driven public policy," founded by Emil D. Kakkis, M.D., who is also the CEO of Ultragenyx Pharmaceutical, which in turn is the U.S. developer of KRN23) held a workshop on "Incorporating the Patient Perspective in Rare Disease Drug Development." You can see an overview and find a link to a proposed framework for incorporating the patient's voice into drug development here: http://everylifefoundation.org/annual-rare-disease-scientific-workshop-7/

The National Health Council (an umbrella organization that works to be the voice of "more than 133 million Americans [who] live with a chronic disease or disability") recently released a white paper at an event, in collaboration with Global Genes and a variety of other important stakeholders, on "Advancing Meaningful Patient Engagement in Research, Development and Review of Drugs." You can read it, and gain a better understanding of how much work still needs to be done before patients' voices can be heard, here: http://www.nationalhealthcouncil.org/sites/default/files/PatientEngagement-WhitePaper.pdf

And most recently, Network president Becky Mock attended the annual Patient Advocacy Summit hosted by Global Genes. You can see from the agenda (available here: https://globalgenes.org/wp-content/uploads/2015/06/SummitAgenda_Livestream.docx.pdf ) that Patient Engagement was, either directly or indirectly, a key element in all of the topics discussed. If you're interested in seeing just how big a challenge patient support groups face, the speech by Pat Furlong, founder of Parent Project, Muscular Dystrophy is both inspiring and educational (and it will probably make you cry too). That video should be available soon, and we'll post the link when it is.

There's a lot of work to do, and the Network Board is diligently gathering information and making plans to move forward. The rules and procedures aren't really in place yet for effective patient engagement, but the Board will be monitoring the situation, educating ourselves on methodologies/guidelines for reducing anecdotes to usable data, and preparing for the right moment to take the next step, once the procedures are in place.

What you can do: 1) educate yourself by reading the information in the links we've provided; 2) participate in credible research studies that seek patient input, like the Burden of Illness survey (https://www.amihealthy.com/custom/ultragenyx/burdenofillness/burdenofillnesshome.aspx?SITE=XLHNETWORK ),  and 3) consider making a donation to the Network (http://xlhnetwork.org/index.php/donate/ ), so we'll have the funds, once the rules and procedures and methodologies are in place to contract our own patient preference research. (And if you can't afford to make a direct donation, consider enrolling in a program like Amazon Smile, https://smile.amazon.com/about , which won't cost you anything, but will benefit the Network whenever you buy things you'd be buying anyway.)

Catching up

There's been so much happening lately, and some topics have been piling up, so here's some short snippets of information to get us all caught up.

First, there's an online survey for research at the University of Rochester (New York) on "Understanding and overcoming obstacles to participation in clinical research for patients with rare diseases." If  you'd like to share your thoughts on the issue, you can complete the survey here: https://redcap.urmc.rochester.edu/redcap/surveys/?s=PE9AWFM48K

For new members who haven't heard about it yet, if you'd like to share your thoughts and experiences on research that's more specific to XLH, you can do the Burden of Illness survey here: https://www.amihealthy.com/custom/ultragenyx/burdenofillness/burdenofillnesshome.aspx?SITE=XLHNETWORK Note that it's now available in a variety of languages: English, French, Portuguese and several versions of Spanish.

And finally, a reminder that the Global Genes Patient Advocacy Summit is happening tomorrow and Friday. If you'd like to watch the livestream to better understand what you can do to advocate for yourself, and what the Network's board is doing on your behalf, you can register here: https://globalgenes.org/2015summit/ Our president, Becky Mock, will be attending the summit, and we hope to have some pictures at our official Facebook page, facebook.com/xlhnetwork

One of the speakers is Pat Furlong, the CEO of Parent Project Muscular Dystrophy (Thursday, 9 a.m. California time, noon Eastern time), and I (Gin Jones) can tell you she's amazingly inspiring. She spoke at a workshop I attended last week, and I'm still thinking about some of the things she said, like how patient advocates need to find innovative ways to "quantify the patients'/caretakers' tears," putting the suffering into a format that researchers and funders and the FDA can understand.

Additional KRN23 adult trial

In addition to the Phase 3 clinical trials of KRN23 that we mentioned previously (starting in October, not yet recruiting), there's another, smaller study that will begin in November (also not yet recruiting). You can read about it here: https://clinicaltrials.gov/ct2/show/NCT02537431?term=XLH&rank=2

This study is for XLHers who have NOT been on the standard treatment regimen at any time during the past two years. This study will consist of approximately ten patients, and will involve bone biopsies rather than blood and urine samples. The intent is to study the effects on the bone directly, rather than indirectly (using blood tests as a proxy for what is happening to the bones).

If you're interested in participating, be sure to read the information at the link above, and watch for an announcement (here, on the listserv and at the official Facebook page) that recruiting has begun.

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.

Awareness

While the Network is narrowly focused on a single rare disease, other worthy organizations take a step back to focus on the broader picture. Two such groups are in the news this month for their efforts to raise public awareness.

First, Global Genes works "to raise awareness for the over 7,000 different identified rare diseases that affect roughly 30 million Americans and approximately 350 million people worldwide." As part of that mission, on September 24th and 25th, Global Genes will be holding its fourth annual RARE Patient Advocacy Summit in California. On behalf of the Network's members, our President, Becky Mock, will attend both the Summit and the Tribute to Champions of Hope Gala on the 26th. You can read more about the Summit and the Gala here: https://globalgenes.org/raredaily/global-genes-to-host-fourth-annual-tribute-to-champions-of-hope-gala-and-patient-advocacy-summit/

The second organization in the news this month is the American Chronic Pain Association, which works year-round to raise awareness of chronic pain, an issue of concern to many XLHers. The ACPA's work is particularly noteworthy in September, since it's been designated "Pain Awareness Month." You can read more about this designation and also find useful links to information about pain treatment options here: http://theacpa.org/September-is-Pain-Awareness-Month

The patient's perspective on clinical trials

In light of the upcoming Phase 3 trials for KRN23, we've been talking to some XLHers who have participated in a variety of clinical trials in the past, so we can share a bit about the experience generally. These comments are not specific to the KRN23 trials, but are just meant to shed some light on an experience that most people are unfamiliar with.

Today's insights, the first in a series on this topic, are from a male in his fifties, who lives in the southeast.

1. How and why did you decide to participate in the trial?

I decided to participate in the trials due to my health concerns and those of my children. I wasn't sure if I could get any relief for my self but wanted to participate with the hope that it would benefit those who are younger and still have a lot of living to do. If I could help them relieve some of their issues thru the trials then I was all for it.

2. Was there anyone in particular who helped you decide whether to participate or to cope with any challenges? 

Family and a fellow XLHer.

3. What do you know now that you wish you'd known before participating in your first trial?

The trials I have participated in have been well explained and there really wasn't any hidden info or circumstances. So really nothing.

4. Anything else you want to share with the Network's members?

I know people have different varying conditions of hypophosphatemia and everyone will feel different on trial medications, but my thought on the whole trial study is if you or I could help the next generations with this disease then why shouldn't we? It may not help us now but our children, their children, and generations down the line may benefit from something we help accomplish.

Disclaimer: 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.

KRN23 adult clinical trials

The Phase 3 KRN23 clinical trials for adults with XLH are set to begin in October. The announcement indicates that they're not yet recruiting, but we'll  update when we find out that recruiting has begun.

In the meantime, if you're considering participating in the trials, you can review the inclusion/exclusion criteria (available here: https://clinicaltrials.gov/ct2/show/NCT02526160?term=XLH&rank=1 ) and discuss your participation with trusted advisers.

You might also find the following sites useful for background information on participating in clinical trials and questions to ask:

http://www.nih.gov/health/clinicaltrials/basics.htm      

https://www.ciscrp.org/education-center/

Board member Kathy Buchanan, who has extensive experience as a clinical research nurse and is a certified clinical research coordinator, suggests that anyone considering participation in a trial should read all of the documents carefully, especially the consent form. Some questions that ought to be addressed by the paperwork, but that you may wish to ask about are: 1) how much time your involvement will require, 2) how often you'll be required to travel, 3) how often bloodwork and other lab work will be done, 4) what side effects may occur and how/when to report them. Finally, if payment is offered for participation, make sure you understand when the monies will be paid (e.g., at the end of the study or at shorter intervals).

Note that, 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.

Changing mindsets

Today's guest post is by Network member, Andrew Shortall. He was diagnosed with XLH at age two, and has become a self-taught chef, wine business person and a writer, with aspirations to become a novelist. 

“Wait, I’m not disabled!”

How familiar is that statement among XLH patients? Very! Or at least it is in my life. While I understand and accept that I have a life altering condition, I’ve always been stubbornly proud and hesitant to admit that I do indeed have a disability or handicap. The same stubborn pride that I’ve seen in other XLH patients; the thing that drives us all forward and never allows us to give up on ourselves or each other.

However, as I grow older and my condition progresses, I’m finding it increasingly difficult to continue saying I don’t have anything more than physical limitations. The truth of the matter is, while my condition isn’t as serious as others, I do in fact, have a physical disability.  

But, accepting that truth doesn’t mean I have to give up my stubborn pride!

It is a streak that makes me always want to do things for myself. I carry my own laundry basket. I drive a car with a manual shifter and no control modifications. I can cook, clean house, maintain the car and do a multitude of other things that a more severely disabled person might not be able to do. For that, I’m hugely grateful. Yet, I must still accept that there are a great many things that I am simply physically incapable of doing.

I cannot walk for long distances, let alone run. When I’m working in the kitchen, I have to sit down every so often. These, and others, are things I cannot do. I do not have the physical ability for them. That’s basically what a disability is, and exactly what I’ve been trying to get my head around these past months and years.

It truly bothers me that handicap and disability is so heavily stigmatized. In a world where equality is at the forefront of daily life, we still have inequality and discrimination towards those who aren’t “normal.” Perhaps that’s why it has been so difficult for me to accept that I have a disability. Because of the perceived stigma attached.

What I do know is that we must strive to show people that while we may have a physical disability or handicap, they don’t change who we are as humans. They don’t make us less useful or relevant in modern society.

This change in mindset came about for me because a friend asked what government benefits I receive for my disability. Which is when I exclaimed, “wait, I’m not disabled!” Their acceptance of me and the things I can do made me realize that while I am disabled, I am still relevant and useful. And that will make it easier for me to accept the help I will most certainly need in the future.

I have to accept that my physical limitations are now disabilities. Yes, I am disabled. And I’m okay with that!

President's message

The Network’s Board of Directors held its annual in-person meeting the first weekend of August this year, and while words are inadequate to convey the degree of dedication, excitement and anticipation in the air, I can give you a taste of the projects we’re currently working on or have planned for the rest of the year.

One of the biggest topics of discussion was the future of XLH Days. The last two (MidWest XLH Day and West Coast XLH Day) were great experiences, and we are looking forward to meeting more of our members at future events. The board formalized its intent to hold one XLH Day each year, generally in the summertime. While there are many, many details still to be worked out (and both volunteers and financing to secure), based on the enthusiasm shown by members in Texas recently, we have begun looking into holding the next XLH Day in the vicinity of Houston in late July or early August of 2016.

We also created an ambitious calendar for the board. This fall, we will represent our members at the American Society for Bone and Mineral Research (ASBMR) conference in Seattle and the National Organization for Rare Disorders (NORD) event in DC. We’ll also be attending workshops on how best to interact with the medical research community in the context of the Patient Centered Outcome Research Institute (PCORI.org). For the future (2016 and beyond), we’re looking into the costs and benefits of eventually expanding our representation to conferences of pediatricians, dentists, and orthopedic surgeons.

A great deal of time was spent on some major projects that are either in early, confidential stages or are a bit further along, but not quite ready to be unveiled. You’ll hear more about them over the next six months, and I’m certain you will be as impressed as I am by the dedication of your Board members in pursuing these time-consuming but incredibly valuable initiatives. Based on our hard but often invisible work over the last two or three years, the XLH Network, Inc. is positioned for significant growth in the coming year.

Last, but not least, we spent a substantial amount of time reviewing our financial condition and figuring out how we are going to pay for our existing programs as well as the ambitious new initiatives. We’re confident, however, that our members will step up to ensure that each XLH Day will be even better than the one before, that we can continue to advocate on your behalf, and that XLHers will always be able to turn to the Network to support you through the challenges of living with XLH or caring for someone with the condition. In that vein, it would be remiss of me not to mention that information on donating to the Network can be found here: http://xlhnetwork.org/index.php/donate/

I look forward to moving ahead with the plans made at this meeting and sharing the details of the new initiatives as they are finalized.

Becky Mock
President, XLH Network, Inc.

Odds and ends

Your blogger left all her deep thoughts on the table at the annual in-person Board Meeting, so all you get this week is a picture of the Network's board members at the beginning of our work, before we were too exhausted to smile for the camera.

In the front (left to right) are Becky Mock (President) and Gin Jones. In the back (left to right) are Geoff Edelson (Treasurer), Joyce Inman (Secretary), Kathy Buchanan and Chris Younger. While Oliver Gardiner and Vice-President Bill Coogan participated via Skype, they were obviously unavailable for the picture.

If for some reason you can't view the picture here, you can check it out at the official facebook page for the Network: https://www.facebook.com/xlhnetwork  If you have a facebook account, we hope you'll follow us there.

And make sure to check back next week at this time, either here or at the official facebook page, for a nessage from the Network president Becky Mock, which will contain highlights from the Board meeting.

Rare Diseases International

The XLH Network, Inc. has always had a global focus, with members from all over the world. It's challenging, though, especially when it comes to fundraising and the lack of uniform international laws with respect to medical treatments and how those treatments are approved or paid for. We think it's worth dealing with those challenges, since the rareness of XLH means there are relatively few XLH patients, and we need our combined strength to make sure all patients have the most up-to-date information about XLH and access to the broadest support possible from other XLHers.

Other organizations tend to have a more limited geographic focus. NORD (National Organization for Rare Disorders, rarediseases.org), for instance, solves the problem of too-small numbers by combining a wide variety of rare disorders and works on the issues that they have in common within the United States.

The Network is a long-time member of NORD and supportive of its work. In return, we benefit too. Anyone who is looking for information on XLH at NORD's website, can put that term into its search box, and will get contact information for the Network. That search also generates a page on Familial Hypophosphatemia that our SAB member, Thomas O. Carpenter, M.D. helped put together, with the basic information about XLH. You can find it here: http://rarediseases.org/rare-diseases/familial-hypophosphatemia/

The only thing missing from NORD's excellent work until recently was that it was limited to addressing issues within the United States. In late May of this year, NORD expanded its reach by joining with EURORDIS (similar to NORD, but for Europe) and patient representatives from thirty countries to create Rare Diseases International (RDI). The mission of RDI is to "represent patients and families of all nationalities across all rare diseases. It will be the voice of all people living with a rare disease around the world today and will work to give visibility to rare diseases in the global health agenda." NORD will be working toward those common goals as the RDI representative for U.S. patients.

You can read the entire press release here: http://campaigns.rarediseases.us/t/ViewEmail/r/2E786CDA9C23E4562540EF23F30FEDED/2CF5BAF93C87CAE373767151F2435ACA

You can read more about RDI (its vision, objectives, history, etc.) here: http://www.eurordis.org/content/rare-diseases-international

Why donate appreciated stock

You may recall that last year we announced that the XLH Network is now set up to receive donations of appreciated securities (stock). Perhaps you're already more financially savvy than most, and understand why that can be a useful financial planning tool, but for the rest of us, we've got a bit of explanation.

Why Making a Gift of Appreciated Securities Makes Sense. In making a gift of appreciated securities, such as stocks, bonds or mutual fund shares, donors can make sizable contributions to the XLH Network and simultaneously derive practical financial advantages. Donors who have experienced growth in their investments are in an excellent position to donate appreciated securities.

How It Works to Your Advantage. Let’s say that 10 years ago, you purchased $500 worth of stock, which has a value today of $5,000. If you choose to sell the holding in your account, you will be responsible for paying tax on the $4,500 capital gain. However, if you are inclined to make a charitable gift, you can transfer the security outright to a charitable organization, rather than selling the security first, triggering the tax, and then contributing the cash. By gifting the security, you will avoid the capital gains tax and will have made a generous contribution to the charitable organization. You will, of course, also receive an income tax deduction based on the mean price of the security on the date of the gift.

How It Works at the XLH Network. Giving appreciated securities is easy! First, it is important that you contact Geoff Edelson, Treasurer, at gsedelson@hotmail.com to inform us of your intention to give securities. Then, electronically transfer shares into the Network’s account:

First Clearing, LLC

DTC #: 0141

Account Name: The XLH Network, Inc.

Account #: 7948-5790

Contact:      Chris Inman

Inman Wealth Management

Wells Fargo Financial Network

140 Mayfair Rd., Suite 400

Hattiesburg, MS  39402

Tel:  601-602-3571

Fax:  601-602-3867

              

Youtube channel for the Network!

If you missed the 2014 Midwest XLH Day (or went, but wish you'd taken notes during the speakers' presentations), we now have the videos available at our very own Youtube channel, so you can get the valuable information from home, at your convenience. You can find the videos here (after you click on the "videos" tab): https://www.youtube.com/channel/UCOCxS6CV6NeNxoFFivOyNpg

We'll be adding to the collection with videos from the 2015 West Coast XLH Day and future events, so make sure to subscribe to get notifications of new content. For now, we have five videos from Midwest XLH Day: Opening remarks by President Becky Mock; Carolyn M. Macica, PhD., on XLH Beyond the Adolescent Years; Erik A. Imel, M.D., on XLH and FGF23; Michael J. Econs, M.D., with a brief history of XLH; and closing remarks by President Becky Mock. You'll also find a playlist with links to other relevant videos.

And just in case the videos inspire you to contribute to medical understanding of XLH, the Burden of Illness study is still accepting responses. Also, we recently received word that the Burden of Illness study has been translated into Portuguese (for residents of Brazil), and Spanish (with three different versions, depending on whether you reside in the U.S., Mexico or Latin America), so if you were unable to participate before because of the language barrier, now  you can participate.

Here's the link (and use the dropdown menu to choose a language and country): https://www.amihealthy.com/custom/ultragenyx/burdenofillness/burdenofillnesshome.aspx?SITE=XLHNETWORK

FDA procedures for new medical treatments

There's been some discussion among Network members about the drug approval process, as KRN23 is entering Phase 3 clinical trials, and you may be wondering just what is involved and how long it takes.

In extremely simplified form, the process in the United States (each country has different rules, but they're likely to be similar) involves negotiations between the applicant (in the case of KRN23, that would be Ultragenyx Pharmaceutical) and the Federal Drug Administration (FDA).

The first step (long since completed in the case of KRN23) is to do some initial laboratory testing (NOT on humans) to determine whether the product is likely to be toxic or not.

If the initial results are encouraging, the next step is to apply to the FDA for an Investigational New Drug exemption from the law that prohibits testing on humans by offering data that suggests it's reasonable to believe it's safe.

If the FDA believes that testing in humans is reasonably likely to be safe, then the applicant can proceed with the third step, which is to design the Phase 1 testing. Before each of the clinical trial phases, the applicant will be discussing the study design and protocol (exactly how the study will be carried out) with the FDA to increase the likelihood that the results will satisfy the FDA later in the process.

Once the study is designed and a protocal established, the applicant must obtain Institutional Review Board (IRB) approval. An IRB is an independent group of experts who review of the existing data to data to make a preliminary recommendation with respect to proceeding with testing on humans.

Phase 1 clinical trials are generally small (less than 100 patients), often healthy patients (not having the condition being tested) and are solely to determine toxicity. Approximately thirty percent of tested drugs fail at this point. KRN23 successfully completed this Phase several years ago.

If the Phase 1 testing suggests that the drug is reasonably safe, then Phase 2 can begin, again after discussing the study design and protocols with the FDA and another IRB review. This is a broader trial, both in terms of how many people are enrolled (although it's still a relatively small number) and in terms of what is being studied. In addition to safety, researchers are considering whether the drug actually works. Approximately sixty percent of tested drugs fail at this point. KRN23, however, had encouraging data at this phase, and is moving on to the next step.

Phase 3 clinical trials are the broadest and most complicated trials. Again, they're designed by the applicant, with feedback from the FDA. Significantly more patients are needed for these trials. KRN23 is currently in Phase 2B, with patients who previously volunteered in Phase 2. When Phase 3 begins later in 2015, it will be open to anyone meeting the eligibility requirements. On average, Phase 3 trials last from one to three years. Getting sufficient volunteers who are eligible for the study can be a challenge for rare diseases like XLH and can delay completion of the trials. Note that another thirty percent of tested drugs fail at this point. We're hopeful that won't be the case for KRN23, however!

Finally, upon satisfactory completion of the Phase 3 trials, the applicant files a New Drug Application with the FDA, with analysis of the data from the clinical trials and a draft of the label (the printed information you get when the prescription is filled), and the FDA undertakes its review. Only about fourteen percent of drugs fail to get approval at this stage.

There are two levels of priority for review, which determines the timeframe. The standard period is twelve months from filing the New Drug Application (after the Phase 3 trials) to a decision by the FDA. Note that a "decision" may consist of a request for more information, so it's not a guarantee that the matter will be resolved in that timeframe. There's also a priority review period that's slightly faster, at eight months, for treatments for conditions that have no alternative therapy. It's possible that KRN23 will qualify for that expedited review, since the existing treatments manage symptoms rather than getting to the root of the condition.

Once the FDA has reviewed the New Drug Application and made a final decision with respect to the right to market the drug and the exact wording of the label, the drug can be marketed. The FDA may require an additional set of clinical trials, however, called Phase 4. These are intended to resolve any remaining questions the FDA may have, and are common where there are issues relating to symptoms or clinical outcomes that may take ten or more years to get answers for. This testing, however, does not stop the marketing of the product, except in the event of serious unexpected side-effects being reported.

Administrative Assistant

The Network is hiring its first-ever employee (part-time, virtual administrative assistant), thanks to the generous financial assistance of Ultragenyx Pharmaceutical.

If you're interested in applying, or know someone with the right skill set, the details are at the link below. We will accept applications through July 24th.

http://www.xlhnetwork.org/index.php/adminjob

21st Century Cures Initiative

The U.S. House of Representatives' Energy and Commerce Committee recently unanimously approved the 21st Century Cures Initiative, a bipartisan effort "to modernize and personalize health care, encourage greater innovation, support research, and streamline the system to deliver better, faster cures to more patients." You can read the press release here: http://energycommerce.house.gov/press-release/21st-century-cures-act-unanimously-approved

This is just one step -- an important one, though -- before this legislation can be enacted. Rare disease advocacy groups have been active in supporting it. You can read the official letters from Global Genes here: http://globalgenes.org/wp-content/uploads/2015/05/20150423CuresSupportLetter.pdf
and here: http://globalgenes.org/wp-content/uploads/2015/05/Please-Permanently-Reauthorize-the-Rare-Pediatric-Disease-PRV-Program-House.pdf

NORD (National Organization for Rare Disorders) issued a statement on the committee's vote, which you can read here: http://campaigns.rarediseases.us/t/ViewEmail/r/C47E8D149A5BBA7A2540EF23F30FEDED/2CF5BAF93C87CAE373767151F2435ACA

NORD has also sent a letter to the leadership of Congress, expressing its support of the Initiative. The XLH Network, along with over two hundred other similar organizations for other medical conditions, have co-signed the letter.

Stay tuned for more information as the bill continues through Congress.

Meet a key donor: Sally Cihos

You've met all of the current Board members, so over the next few months we're going to introduce you to some other key players in the Network. Our first interview is with Sally Cihos, who has been a recurring donor to the Network, and  recently made a substantial contribution that will help to ensure that we can continue to provide education about XLH and offer information and support to XLH patients and their families. If Sally's story moves you, we hope you'll consider making your own donation, which you can do at http://xlhnetwork.org/index.php/donate/

1. How did you become involved with the Network?

I became involved with the XLH Network in 2011 because I was (and still am) having trouble with my left hip. I searched online and eventually found “Hip Talk,” an online support group. It was there where I met Delynn Shelton. We exchanged a few emails and discovered that we had similar symptoms and experiences. She was the person who told me about the XLH support group. I think I joined soon after learning about it, but I was a pretty silent member. So I give Delynn (“Hi!”) all the credit for leading me to this wonderful group!

I have a long history of bone deformity/fractures and dental issues. I was a “chubby” baby and weighed 30 pounds at nine months! I walked very early and had much bowing which was blamed on the weight. I had many cavities as a child and eventually root canals and crowns/bridges starting in my teens. My four siblings have none of my problems and I was very self conscious about my bowed legs and waddling gait beginning at around age 10.

When I was in high school I had a skiing accident and tore the medial cartilage in my right knee. I had open knee surgery 10 weeks before my high school graduation. After surgery I was told I had permanent damage in my knee and I would be in a wheelchair by the time I was 30! But the doctor never told me “why” and no one asked.

I remember that day as if it were yesterday and yet I never dwelled on it or really even thought about it much for many years; life went on and, besides, I was never, EVER going to be THIRTY! And so, during the next 50 years I had shoulder surgery, hip surgery, five more knee surgeries, eight nor nine stress fractures in my feet/legs, 23 crowns, twelve root canals (and 2 root amputations), and increasing spinal stenosis and crunching everywhere from the loose bodies, spurs, and calcifications. Probably all too familiar to most of you!!!

Even with all of that, the road to diagnosis came very late for me. I had low serum phosphorus for many years (1.2), the waddling gait, the dental issues, deformity, pain, etc. In 1997, after repeated stress fractures in my feet, my local podiatrist suggested I see a young sports podiatrist in Palo Alto, who had an interest in metabolic causes of fractures. The sports podiatrist immediately suspected hypophosphatemia. He referred me to an endocrinologist at Palo Alto Medical Foundation, who then sent me to another endocrinologist Stanford, who was considered an expert in Vitamin D metabolism. I started on the K-Phos and Calcitriol, but I didn’t stick with it because I didn’t feel any better and it did not improve my serum phosphorus level. I didn’t understand that the goal was not to necessarily increase the measured phosphorus level. In 2001 those three doctors published a paper about me in the Journal of Foot and Ankle Surgery, tho I didn’t learn this until I returned for treatment 12 years later.

By 2013, I thought I was finally ready to have hip and knee replacement surgery. Because I had learned through the (XLH) Network that the treatment I had abandoned could/would be of benefit to me, I returned to the endocrinologist to resume treatment. He ordered imaging studies and blood work before restarting treatment. My scan was on a Friday and my endocrinologist called me with the results that Friday afternoon at 5:30PM. As it turned out, I had early stage kidney cancer (presumed benign lipoma, but carcinoma upon biopsy) and a HUGE (suspected cancer, but benign upon biopsy) ovarian mass! Two fearful weeks later, after a series of tumor marker tests and pre-op screenings, I had two surgeons and a robot fix me up at Stanford. I now have annual screenings of my kidney and a half, as well as my pancreas because my only aunt had pancreatic cancer and I have a slight abnormality (duct size). I am again taking Calcitriol and K-Phos and again I am not really feeling any better, but I feel that I am doing as much as I can to prepare for the eventual joint surgeries. I am still very active, but no longer walk 20-25 miles a week plus Jazzercise 4 times a week as I did 10, 20, 30 years ago—moderation is key as I approach 70 (GAG!). I do miss my youth, but I am learning to be content to enjoy the young lives of my two daughters, seven grandchildren, and one great grandchild. Remarkably, not one of my descendants (or my siblings’ children) has inherited my condition, for which I am VERY grateful!

2. What motivated you to make a financial contribution to the Network?

I was motivated to donate to the Network because I wanted to give back to an organization which very well may have saved my life! I most likely would not have sought to go back on the meds had I not read the discussions on the Listserv; there were many personal stories about the benefits of the Calcitriol/K-Phos treatment, even with no measured improvement in serum phosphorus levels.

The Network has helped me to further understand the condition and realize that I am not alone. It was so powerful (especially being a spontaneous case) to actually meet with others for the first time (at Yale in New Haven)!! And the 2015 event in Novato, California, was even better attended and was really fun and heartwarming. I am very impressed by the Board’s dedication and success and they have added a lot of enthusiasm to the organization! I hope we can continue to attract and enable members to attend future events for education and camaraderie.

3. And finally, what is your superpower?

Well, after all of this yakking, I guess my superpower is that I can talk a lot. I love people and am generally outgoing, but I avoid public or group speaking and/or being the center of attention. I’m more of a behind-the-scenes ordinary person with an often irreverent/wacky sense of humor, quick wit, and unrelenting curiosity.

Travel jitters

With summer vacation time rapidly approaching, you may be feeling anxious about the physical challenges of air travel. Guest blogger Andrew Shortall is here with some tips and anecdotes.

*bing* 

“I’m sorry sir, would you step over here, please?”

These are probably some of the most dreaded sounds and words for an XLH’er but I’m here to tell you they don’t have to strike fear into your being! I've been travelling internationally for many years. Being Irish, my osteotomy implants have almost always set off the metal detectors in Dublin airport. And when questioned, I explain that I have surgical implants in both my legs. A mere wave of their detector wands and seconds later, I'm free.

The most personally invasive experience was in Chicago O'Hare in 2009 when I was returning to Ireland. Naturally, my appliances set off the detectors and I was called aside by a very kind and respectful gentleman of what is now the TSA. I mentioned the metal, and he asked me to follow him a few paces to a small, private room. He asked me if I minded showing my surgical scars, which I didn’t. But really, how in the world can I hide them? I rolled up my pants legs and showed them to him. And to be quite honest, it was HE who was more embarrassed at having to ask.

And that’s why you don’t need to be afraid. The TSA and their counterparts around the world understand that millions of people have surgical implants, be they joint replacements, skull plates, or in our cases, plates and pins. Personally, I view my scars and metal as trophies. I won them on the hard road through my treatments. I don’t feel self-conscious about them now, as they have been a part of me for a long time. And I’m proud of them!

Finally, as summer rapidly approaches, many of us will choose to take a vacation and fly to our destinations. I’ve looked through the TSA website, and I’m impressed with how accommodating they are, even with today’s need for such increased security measures. While their primary concern is safety and security of air passengers, they also focus on passenger comfort, respect and dignity. Here are some helpful links:

This page is the launching pad for medical and disabilities information:

http://www.tsa.gov/traveler-information/travelers-disabilities-and-medical-conditions

Here you’ll find information most suited to XLHers:

http://www.tsa.gov/traveler-information/metal-implants

This page provides advice for anyone with limited mobility:

http://www.tsa.gov/traveler-information/mobility-impairments

In all cases, you need to speak to the TSA at least 72 hours before your flight. This will make their job easier, and will help reduce your stress and worry about the checkpoints. It’s also highly recommended to speak to your airline, as they will provide mobility assistance upon your arrival at the airport, and throughout your flight, should you need it.

And while this post is written primarily about the USA, I know from personal experience that similar procedures are in place around the world. Speak to your airline, and the airport authority well in advance of travelling. They’re all there to help!

Expanded pediatric clinical trials

The expanded pediatric clinical trials for KRN23 are recruiting NOW!

Here's the link to clinicaltrials.gov: https://www.clinicaltrials.gov/ct2/show/NCT02163577

Note that this is happening in a number of countries, not just in the U.S. There are locations in France, the Netherlands and the UK.

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 advisors, including their health care providers and family members.

Meet the Director: President Becky Mock

1. How did you get involved with the XLH Network, and then how did  you become a member of the Board of Directors?

It was only by chance that I learned that the disease that was common in my family, hypophosphatemic renal rickets was also called XLH and that there was a patient advocacy organization!

In 2003, I was looking for a doctor with experience treating hypophosphatemic renal rickets for my two teenage children. It was past due for them to transition from the pediatric nephrologists that had treated them for years to an adult endocrinologist. My doctor recommended they see a doctor with more training in growth issues and referred me to Dr. Thomas Weber at Duke Medical Center. I spoke to Amy Wright, Dr. Weber's nurse, inquiring about his experience with hypophosphatemic renal rickets. I mentioned that I had experience leading support groups and wanted to start one for XLH, but I couldn’t figure out how to find others with XLH. Amy asked if I knew about the XLH Network and gave me the website address. That random conversation helped me find the XLH Network. I signed up as a member that afternoon.

The XLH Network website offered a checklist of symptoms well known by my family. My father, I, both sisters, two children and a grandchild all have XLH. It was so helpful to learn how others dealt with our rare disease and to connect and share information.

In 2011, after I retired as program director at a local nonprofit organization, I learned that the Board needed new members. I joined the Board in 2012 and became President in 2013. It’s been an intense three years of work on behalf of everyone with XLH. Leading the XLH Network requires more time and effort than ever before by every person involved, Board members and volunteers alike. We are committed to doing whatever it takes to create a stronger Network, as the child and adult research holds promise of a treatment for XLH in the next few years. We have to move our organization to the next level of development if we are to adequately provide the support and services our members need.

2. What's your "super power" -- the special skill, knowledge or experience that you bring to the board?

I’m not afraid of hard work and as a seasoned advocate, I know how to make our case (lobby!) at the local, state and national level. I’ve visited Congress on behalf of XLH patients asking for an increase of funding for National Institute of Health research. I’ve had breakfast with North Carolina legislators with the NC Rare Disease Coalition, representing the XLH Network. The exhaustion from secondary hyperparathyroidism slows me down, but I’m still willing and able to put on my XLH Day button and talk to anyone that walks by the XLH Network at medical conferences across the USA. We have to do this outreach to raise awareness of XLH or we remain invisible to the majority of doctors and the public. I hope to train more volunteers this coming year to do this very important work.

3. What XLH Network project are  you working on now that you're particularly enthusiastic about?

There are so many great projects going on within the Network right now, but I am most excited about moving from an all volunteer organization to one with a professional Executive Director to improve our ability to serve our membership. It’s an important part of growing our organization and an important benchmark of stability for the Network’s future.

NOTE: You can also read a newspaper article featuring Becky here: http://www.epaperedition.com/Olive/Tablet/BurlingtonTimes/SharedArticle.aspx?href=BUR%2F2015%2F05%2F26&id=Ar01102

Meet Director Chris Younger

1. How did you get involved with the XLH Network, and then how did you become a member of the Board of Directors?  

I became a member of the XLH Network in 2000. I was having debilitating joint pain and looked to the internet for answers. Turns out my issues were not related to XLH, but finding the XLH Network was truly life changing. I'm a spontaneous case and grew up knowing very little  about XLH. I recall late nights reading through the listserv archives in complete amazement. Having my issues, especially dental issues, validated  through the experiences of other members was overwhelming, in that I was not alone and there was an explanation for my issues.
   
Shortly after finding the network I found a specialist and started the standard treatment of K-phos and calcitriol. Through the information from the network I realized I was not being monitored properly, and I was being over-dosed. The specialist who claimed to have experience treating XLH clearly did not, and I moved on.    

Through the network I found out about and participated in several clinical  trials at Yale, which is where I finally met another real live XLHer in the  flesh. This only took 40-some years! Several meetings were organized at Yale  with XLH patients and the XLH Network in order to generate more volunteers and  involvement for the network. What came out of this was the first XLH Day in  2011. I was part of the planning committee for this event and every XLH Day  after that. In 2012 I surmised sleep was over-rated and joined the board.  I  am currently serving a 2nd 3-year sentence, oh I mean term, and chair the  Communications and Technology Committee.  

2. What's your "super power" -- the special skill, knowledge or experience that you bring to the board? 

I like to think everyone with  XLH has superpowers, having that additional something to overcome the extra  challenges thrown our way. Maybe my superpower is the ability to be involved in a lot of activities and still keep my head above water. Well, maybe it's being super crazy, or the inability to say no, which may be genetic. I'm one of nine children and my mother was always asked how she ended up with had nine kids, and  her response was, "I guess I couldn't say no." See, genetic!
 
In any event,  I'm an electrical engineer and have been working in the semiconductor business  for 30 years. The job is quite demanding and ever changing but keeps me on my  toes and pays the bills. My second "job" is the XLH Network. Giving back is  important to me and the work I do for the network is a small price to pay for  all the information that I have received. It is also a pleasure to work with  the rest of board, as they are an outstanding group of unselfish, dedicated  professionals.

Additionally, I'm a musician and songwriter and have been  performing with my wife in a band for the last ten years. We have an original  CD and perform pretty much anywhere small objects can't be hurled at us. (Shameless promotion is tempting here but I'll behave.)

I'm also an exercise  enthusiast and make time to work out. I think this is the best Rx we can do for quality of life issues.  So holding all this together along with the other routine aspects of life can be quite challenging. When all these things peak at the same time I do question my sanity and consider scaling back, but see above (inability to say no).  

3. What XLH project are you working on now that you're particularly enthusiastic about?  

As mentioned above I chair the Communications and  Technology Committee. Personally, I update our websites, participate on the XLH  Day committee, and help maintain our online sites. We are a virtual  organization and everything we do is based on technology. As a committee we  make sure our existing technology keeps working and meets our needs, and then  look to see what's out there for improvement. Our communications are based on  technology and this is also reviewed constantly to make sure we are reaching  members in the best way possible and that we are providing a mechanism for  member engagement.

Some exciting future projects are a new integrated website  with a more value added member site. We also realize the listserv is very old  technology that doesn't compete with today's social media experience, so we are  looking at viable replacements. Without giving away too much we are also working on and investigating sites for various media.  

Now, to get on my soapbox (because I like to feel tall once in a while), keeping this  organization going is very difficult with volunteers, and growing it is even  harder. Sustainability is the key, and in order to do that we need all members  to be engaged, and everyone with XLH to be members. Our disease is rare, our  population is small, no pun intended, and we need everyone's involvement to be  successful. Imagine the network with paid staff, with representation at every  major medical conference, funding research, influencing insurance coverage, and the list can go on and on. It won't happen on its own, and surely can happen faster with the support from all members.

Now can someone help me down off this  box . . . .

What YOU can do

The XLH Network is always interested in recruiting volunteers to help us meet our mission. We realize that we talk about our need for volunteers frequently, but at this time of year the nominating committee always considers how to increase involvement in an attempt to ensure that we have our bases covered and that we are continuing to grow and extend the reach of the Network. We want all patients with XLH to have access to early diagnoses and the best treatment possible, and it takes a lot of volunteers working together to try and meet this goal!

As we look toward 2016, the nominating committee is hoping to recruit volunteers in any number of capacities. Do you like to write? We need volunteers who are interested in writing blog posts about their experiences with XLH. Are you interested in moderating conversations on the forum we are developing? We need volunteers who are interested in trying out the new forum and being trained in how to moderate various threads. Also, there's been a lot of discussion lately about future XLH Days in various parts of the world, but to make that happen, we need volunteers to help organize them. There might be opportunities for less formal regional gatherings too, but again we'd need someone local to be part of the project. Are you interested in serving with others as a point of contact for your region? And, finally, we have a number of other initiatives that aren't ready for unveiling, and we could use people with organizing, clerical, photography, tech, graphic design, local fundraising, database design, and public speaking skills to help us meet our goals.

Of course, we would love it if you could commit to lots of hours every month, but we can also use help that just involves one hour per month, or project-based assistance that begins and ends with a specific project.

The Network is growing, and it is exciting! But as we grow, we are going to need more and more help from volunteers to ensure that we are reaching as many families and medical professionals as possible. We hope that 2016 is the year you will volunteer your time. If you are interested in volunteering, post on our Facebook thread or send us a private message. We are looking forward to everything the next calendar year is going to bring!

Ultragenyx Patient Day

A report from Network President Becky Mock on last month's Ultragenyx Patient Day:

Ultragenyx hosted their second annual Patient Day on Saturday April 11, 2015 in sunny Novato, California. Approximately 68 XLHers and their family members joined other rare disease groups and Ultragenyx employees to celebrate the challenges and sacrifices that rare diseases patients make every day. The event was lots of fun with wonderful food and drinks, clowns, a video game truck, bouncy houses for the kids and a wall mural for self expression. 

Ultragenyx CEO, Dr. Emil Kakkis, and four individuals affected by rare diseases, including our own President, Becky Mock, made presentations about their particular disease. The Ultragenyx tradition of naming conference rooms for people affected by rare conditions was carried on at Patient Day with one of the conference rooms being dedicated to Becky, in honor of all those affected by XLH. 

A final highlight of the day was a special performance by the 70’s rock band, Three Dog Night, including their hits Old Fashioned Love Song, One, a new powerful song called Prayer of the Children, and of course, Joy to the World!

XLH Network members enjoyed the festivities and appreciated our selection for the special honor of a conference room named for all those affected with XLH.

If the shoe fits

Today's guest post is by Network member, Andrew Shortall. He was diagnosed with XLH at age two, and has become a self-taught chef, wine business person and a writer, with aspirations to become a novelist. 

I was always a difficult person to buy shoes for. My feet are wide, so I generally had to get the next size up. I never truly understood the importance of having comfortable shoes as an XLHer. And now that I have you hooked, allow me to explain.

Many years ago, I slipped in the shower and broke the fifth metatarsal of my right foot. The so-called “soccer player’s injury,” or at least it was, according to the orthopaedic specialist looking after me.

Over the course of my recovery, I had a fiberglass cast and cast shoe. Both combined to have the effect of giving my right leg an extra inch in length, which leveled out my hips. Rather miraculously, this lead to a significant reduction in my back pain. So, I asked the specialist and he referred me to an orthotics clinic who outfitted my shoes with a raise designed to do the same job as the cast and shoe.

While my walking and back pain improved, it wasn’t perfect. And I didn’t understand why until I moved to France and my now well-worn shoes finally started falling apart. I got them re-soled but that made them increasingly uncomfortable. So, when a lace snapped, I put on some old trainers or running style shoes. Within a day or two, I felt more at ease on my feet and started walking better. So, I bought new trainer style walking shoes. They were cheap, but they were also a stop gap.

Again, my walking improved, as did my stamina for standing in the kitchen. However, as is inevitable with cheap shoes, they quickly became uncomfortable so on the recommendation of my Dad I researched some specific walking boots and went to try them on early in January. Again, I ended up buying a couple of sizes bigger than normal, but apparently French feet are smaller than Irish ones!

Happily, my new walking boots are far more comfortable than the old ones. And once again, I’m walking easier and have more stamina while standing in the kitchen. But the best part of this story is that I’ve drastically reduced my reliance on NSAID pills to manage my back and joint pain. I’ve gone from two to four pills a day to two pills a week. Although I do take one or two when I’m working.

I never realized that footwear could have such a profound effect on mobility and stamina. While I won’t be walking a 10K any time soon, I’m very grateful for the improvements. So, if you have similar issues, please consider trying some different shoes. You might be surprised!