Wednesday, December 28, 2016

Looking forward to the next twenty years

Message from the Network's President, Bill Coogan:

We've already reviewed some of the milestones of the past twenty years, and now I'm here to share some of our expectations for the milestones of the coming year and beyond. If you want to see these goals come to fruition, we need your financial support now. You can donate here:

Already, 2017 is shaping up to be an eventful year. We hope to announce the hiring of an Executive Director soon, who will help us to accomplish our more substantive goals. 

In addition to our regular activities that we've engaged in for the past twenty years, of representing, supporting and advocating for the XLH community (and those with related phosphate-wasting disorders), we'll be particularly involved in the following major programs:

  • Organizing the next XLH Day to be held at Quinnipiac University's Frank H. Netter School of Medicine (in North Haven, Connecticut) on October 6-7, 2017. 
  • Collecting data for a Natural History of XLH (and related disorders).
  • Publishing educational materials geared toward children, providing age-appropriate information about XLH (and related disorders).
  • Publishing Weak Bones, Strong Wills, The Stories of XLH, a collection of essays about the XLH experience. 
  • Representing the XLH community (and those with related phosphate-wasting disorders) as KRN23 goes through the regulatory process. 
I'm sure you'll agree that these are all critical projects that need to be undertaken sooner rather than later, and none of them are without cost. If we're to do everything on our agenda, we need your financial support. 

Please help us to help you. Donate now:

Thank you.

Tuesday, December 20, 2016

Warm winter wishes

Your hard-working board members are taking a brief holiday break this week and next, but we'll be back in the new year, representing the global XLH community (including those with related phosphate wasting disorders).

You can see our holiday card over at our official facebook page:

Wednesday, December 14, 2016

Milestones on the way to our twentieth anniversary

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

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

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

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

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

A Clinician's Guide to XLH was published in 2011, and has undoubtedly been of assistance to clinicians and patients alike. If you haven't already read it, you can find it here for free:

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

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

We hope you're as excited about the next twenty years with the Network as we are. If you'd like to make a donation to help keep us going, you can do that here:

Wednesday, December 7, 2016

What's your story?

We're coming up on the deadline for submission of stories for Weak Bones, Strong Wills, The Stories of XLH (December 31, 2016).

If you'd like a peek at what others are writing about, here are a few snippets (each paragraph is by a different writer) reminiscing about childhood experiences, which have been the bulk of submissions so far. We have some pieces on the adult experience and parenting, but we'd love more. (We're greedy that way.) And we'd especially love to hear from a non-XLH sibling of an XLHer, about what it's like living with someone who has a rare disease. And from XLHers in their eighties (and above), either directly or as told to a younger generation.

For the first peek, here's a comment by a nine-year-old who's still living the childhood experience of XLH: "I have a best friend I met because of XLH. We met on XLH Day. We see each other at the doctor’s office sometimes, and once we even went to New York City together."

And now a collection of memories from growing up with XLH:

  • "Bicycling became my favorite thing to do. I think because it was less painful to run to keep up with the other kids. On my bike I was free and nobody could tell that I waddled when I walked and couldn’t run very well. I covered a lot of ground – going to the beach, to the river banks and to the Dairy Queen for a cone. I still haven’t given up the habit for over fifty years now."
  • "I remember blood tests, followed by special lunches with my parents. I remember feeling special because I got to visit the school nurse every day to gulp down my bitter phosphorus-laced apple juice."
  • "I hated seeing the phlebotomist with her little tray of needles and vials. I would curl my fingertips inside my hands so she wouldn't see them and decide to prick me!"
  • "I remember attending our high school Junior Prom . . . using canes for assistance in walking [while in a cast after surgery]. The theme of the Prom that year was "Candyland," and I decorated my canes with red and white crepe paper to look like peppermint sticks."

We know there are so many more stories out there, and we'd like to have a truly representative sampling. Please take the time to write yours down and send it to us. If you're having trouble getting the words right, just make some notes, do what you can, and send it to us with a note in your cover letter, asking for some editorial help, and we'll be happy to provide it.

You can find more information and the submission guidelines at our discussion platform here: If you haven't already registered with the forum, you'll need to do that first, or else send an email for a copy of the guidelines to: XLHstories at gmail dot com.

Thursday, December 1, 2016

Thank you

Thanks to all the generous donors who participated in #GivingTuesday yesterday and chose the Network to receive the funds. We're already busy setting our budget for next year, looking for the best ways to put that money to good use (and to squeeze every penny's worth of value out of it by using volunteer services for most of our activities). 

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.

Thank you again for your generosity. Stay tuned for some exciting news in 2017 as the work we've done this year, thanks to previous years' donations, comes to fruition with an amazing XLH Day (October 6-7 in North Haven, CT), the launch of the Natural History Study, publication of new educational materials for children, and release of the book of XLH stories (which is still looking for stories; send them to 

We expect 2017 to be something of a breakthrough year, with advances in science, possible FDA approval of pediatric use of KRN23 and the ever-increasingly accepted role of patient groups' involvement with the medical research community. We hope you'll be here, sharing in the good news and supporting our work.

Tuesday, November 29, 2016

It's your turn now

You know how hard we're working to help the XLH community. Now it's your turn to support the Network.

#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!

Don't forget: in honor of the Network’s twentieth anniversary, donors who give at least $20 will receive an XLH Network sticker!

And don't forget your #unselfie to show your support! 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 an "I Pledged" graphic that you can use instead! You'll find it at our official Facebook page:

Now is also a great time to recruit a new member! If you can't give financially, you can give your support. Help one of your friends or family members with XLH become a part of the XLH Network. Ask them to like our Facebook page or join our forum.

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

Tuesday, November 22, 2016

Giving thanks

Three things for the XLH (and ADHR, ARHR and TIO) community to be thankful for this year:

1. Hope for the future, with the encouraging data coming out of the KRN23 trials and other research into understanding the metabolic process that leads to phosphate wasting in X-Linked Hypophosphatemia (and the related autosomal conditions, as well as Tumor Induced Osteomalacia.

2. The great attitude of the members of our community. For one example, check out Cheryl's story here: And if you want to meet more people who share your experiences (as well as getting the latest information on treatment), mark your calendar now for XLH Day 2017, which will be held in Connecticut on October 6-7.

3. Twenty years of support and advocacy by the XLH Network! And while you're thinking about how much you appreciate the Network, here's a reminder that if you're doing holiday shopping at Amazon in the coming month, you can show your support by enrolling in the Smile program and choosing the Network as your beneficiary. We get a percentage of your purchase, at no additional cost to you! Find out more here:

Wednesday, November 16, 2016

Giving Tuesday for Twenty Years of Networking

On this, the twentieth anniversary of the XLH Network, we hope you'll remember us on Giving Tuesday, November 29th.

You can donate here:

We'd be particularly grateful for recurring (also known as "sustaining") donations that help to guarantee our long-term viability.

If you can't spare any money, or if you want to do even more than a donation, you can share your appreciation of the Network, encouraging others to consider giving to the Network over on Twitter, using the hashtags #GivingTuesday and #XLHNetwork.

Thank you.

Thursday, November 10, 2016

Ultragenyx filing for regulatory approval of KRN23 in 2017

According to a new press release from Ultragenyx Pharmaceutical, there are plans to file for approval of KRN23 in the US in the second half of 2017. An application is expected to be filed even sooner (around the end of 2016) for Conditional Marketing authorization in Europe.

You can read the entire press release here:

Also of note in the press release is the following: "Data from the Phase 3 study in adult XLH patients expected in the first half of 2017. The fully-enrolled Phase 3 study will evaluate change in serum phosphorus levels, pain, stiffness, physical function, and safety of monthly KRN23 compared with placebo over 24 weeks in 134 adult XLH patients."

Tuesday, November 8, 2016

Call for UK volunteers

The XLH Network, Inc., is investigating the possibility of establishing country-wide groups affiliated with the Network to address more local issues than a global organization is equipped to handle. 

To that end, board member Oliver Gardiner is looking for volunteers to assist in the creation and operation of an affiliate in the UK (primarily England and Wales). He is looking for individuals (with or without XLH) who could volunteer their skills and expertise to ensure the health and growth of the organisation. You must be over the age of 18. 

To find out more and request an application form, please email: oliver.gardiner at 

Wednesday, November 2, 2016

President's message: Celebrating 20 years of the Network

From the Network's president, Bill Coogan:

As we enter this season of giving and acknowledge twenty years of accomplishments, please help us continue to help you. Donate now:

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

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

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

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

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

Thursday, October 27, 2016

KRN23 pediatric trial is enrolling patients

Ultragenyx Pharmaceutical, Inc. just announced that the first patient has been enrolled in the most recent KRN23 clinical trial. As explained by the CEO and President of Ultragenyx, Emil D. Kakkis, "This study will allow us to directly assess whether KRN23's potential impact on rickets ... is superior to that of conventional oral phosphate and vitamin D therapy for children with XLH."

You can read the press release here:

You can read more about this Phase 3 pediatric clinical trial, which is recruiting pediatric patients (currently recruiting at two locations in California, plus one location in each of Indiana, Missouri and Tennessee, with additional sites worldwide not yet recruiting) here:

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.

If you're considering participation in a trial, please remember that discussion of the details of others' experiences (especially with respect to symptoms and side effects) may have some adverse consequences for the validity of the study. On the other hand, discussions of things like the time commitments, disruptions to daily life and the quality of the staff are safer to discuss with other participants in the trial.

Wednesday, October 26, 2016

So many stories, so little time

Remember our call for stories about living with XLH? The deadline was October 1st, but we've been so busy working for  you that we missed our own deadline.

We've got a bunch of great stories for Weak Bones, Strong Wills, The Stories of XLH, but it's become obvious that we won't be reading and organizing them for a few more months, because of other commitments, so we're extending the submission deadline to December 31, 2016.

If you meant to send in a story and, like us, ran out of time, you've got a second chance now. And if you didn't mean to send in a story ... well, why not? We've got some great material already, but as we all know, there's such wide variability in the symptoms and experiences of XLHers, that it's a challenge to try to represent the many facets of living with XLH. We need every story, every angle, every voice, to make this the brilliant book we think it can be.

You can find more information and the submission guidelines at our discussion platform here: If you haven't already registered with the forum, you'll need to do that first, or else send an email for a copy of the guidelines to: XLHstories at gmail dot com.

Wednesday, October 19, 2016

The promise of monoclonal antibodies

As KRN23 is entering what is expected to be its final clinical trial prior to submission for approval by the FDA, it may be useful for the XLH community to understand more about this potential treatment.

KRN23, rather than being a traditional drug, is similar to newer treatments on the market, commonly referred to as "biologics." KRN23 is a "monoclonal antibody." It's not the only such product. You may have seen advertisements for one currently used in the treatment of rheumatoid arthritis: abatacept (Orencia).

Monoclonal antibodies are designed to bind with another substance in the body with greater specificity than other drugs, generally rendering the substance inactive. XLH (along with the autosomal variants and tumor-induced osteomalacia) appears to be well suited to treatment by this kind of antibody.

The symptoms of XLH is are caused, in large part, by the excessive production of a hormone, Fibroblast Growth Factor 23 (FGF23), which in turn causes phosphate wasting and the decreased ability to metabolize Vitamin D into its active form. The expectation is that the antibody known as KRN23 will bind to the FGF23 and essentially render it inactive, allowing normal phosphate reabsorption and active vitamin D production.

This expectation appears to be proving true in the clinical trials to date. If you'd like to read more about it, there's a somewhat technical article that's still comprehensible to the layperson (at least if you're willing to look up the terms  you don't understand) in the Journal of Endocrinology & Metabolism, which you can read for free here:

The conclusion: "KRN23 has the potential to improve biochemical and skeletal outcomes in adults and children with XLH, with greater convenience and compliance than multiple daily doses of calcitriol and phosphate."

Of course, there's still more work to be done before we'll know for sure that KRN23 will be a safe and effective treatment. Additional research is also continuing into better understanding of XLH, including searching for answers as to why and how the DNA mutations associated with XLH trigger the excessive production of FGF23.

So much has been learned about bone metabolism since the discovery of FGF23 just sixteen years ago -- that's four years after the XLH Network was founded! -- and we're increasingly hopeful about the prospects of a better quality of life for individuals with hypophosphatemia.

Thursday, October 13, 2016

Rare disease, rare art

The EveryLife Foundation For Rare Diseases ( is a nonprofit dedicated to accelerating biotech innovation for rare disease treatments through science-driven public policy. It sponsors an annual contest to recognize artists from within the rare disease community.

This year will be the eighth such event. This year, the organizers "hope to engage even more members of the rare disease community in order to raise awareness of their diseases and showcase their talent."

The deadline for entry is December 5, 2016, with prizes ranging from $100 to $500, plus the opportunity to have the winning work displayed at the Rare Artist Reception to be held on March 1, 2017 in Washington, DC in conjunction with Rare Disease Week on Capitol Hill. Artists with works chosen for this reception will be eligible for travel stipends.

For more information and the instructions for how to enter your artwork, go to

Tuesday, October 11, 2016

More patients with joint replacement surgery

We previously shared information about a research survey for XLH patients who have had joint replacement surgery.

Here's the gist of the project: "We [the researchers] are seeking men and women aged 18 or older with X-linked hypophosphatemia (XLH) who have had a hip or knee replacement to participate in an online questionnaire in exchange for a Starbucks gift card. The purpose of this questionnaire is to learn more about joint replacements in patients with XLH. With the information gathered, we will be able to educate clinicians about joint replacements in patients with XLH."

The researchers have had some response, but could use some more, and have expanded the criteria for eligibility, so that patients previously ineligible may now be eligible. In particular, those who are in clinical trials now are eligible. Accordingly, if you didn't do the survey before and you're interested in sharing your joint-replacement experiences with researchers now, here's the official announcement (and make sure to read the full announcement in the link below):

We are currently accepting new submissions from patients who are either enrolled, or not, in a clinical trial! If you were previously excluded because of your involvement in a clinical trial and you are interested in participating in this very important assessment of pain and joint health, please complete the survey using the updated link below.

Additionally, if you have attempted the survey previously but have not completed it, you can restart the survey using the same link below.

If you could not take the survey because you had a joint replacement within 6 months, please take the survey as soon as you pass the 6-month mark.

Thank you for your participation!

Contact: or (203) 582-4053

*If you have already successfully completed the survey, there is no need to resubmit your response.

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

Wednesday, October 5, 2016

Celebrating the Twentieth Anniversary of the Network

This November will be the twentieth anniversary of the coming-together of XLH patients to form the Network. What an amazing two decades for a grassroots organization of rare disease patients. It's likely that none of those original founders could have imagined where we'd be today, with so many members, so much improved knowledge about the underlying metabolic cause of the condition, and so much hope with the possibility of a breakthrough therapy on the horizon.

So far in 2016, we've been working hard to ensure that the next TWENTY years will bring even more accomplishments for our community. We've already represented families with XLH at three major medical conferences. We've hosted the Texas XLH Day and had the opportunity to meet families who are part of our network, as well as doctors and researchers who are working to support our community. We are also closely monitoring the progress of the clinical trials for KRN23, a new and potentially life-changing treatment for patients with XLH.

And that's not all. You'll be hearing about some other work in the next month, as the behind-the-scenes projects come to fruition. In particular, we're on the verge of launching the XLH Natural History Study and Patient Registry—a platform that will, for the first time ever, allow us to collect the data necessary to further the research into XLH and related conditions.

We hope you'll support that ongoing work and join in the celebration of the past TWENTY years of community and advocacy. For every donation of at least TWENTY dollars made to The XLH Network, Inc. from October to December, donors will receive one of our new XLH Network car stickers. (They're about 3" x 5", and you can see a picture at our official facebook page, )

We hope you will enjoy this small recognition of your contributions to the Network and the work that we do. And, of course, we hope that people will see your sticker on your car or laptop case and ask you about The XLH Network, Inc. When they do, be sure to take a moment to educate them!

Go to to donate and get your XLH Network sticker today!

Tuesday, October 4, 2016

Around the world with XLH: Spain

Long-time Network member Marina Velazquez met with a pediatric nephrologist, Carmen de Lucas Collantes, MD, and five families living with XLH in Spain this past weekend, to share their experiences and learn more about treatment options around the world.

The families were from Madrid, Cordoba and Avila, and they met in the Hospital del Niño Jesús in Madrid, Spain. One of the major topics of discussion was whether treatment was any different in Spain than in the United States. They learned that the medical treatment itself is no different, but there are differences in the structure of the health care system. For one thing, it is more common for nephrologists to provide the treatment in Spain, whereas endocrinologists usually provide the treatment in the U.S. The more troubling difference is that the socialized medicine system in Spain limits where patients can go for treatment, so some patients don't have access to doctors with significant XLH experience.

You can see a picture of the five familes with Marina and Dr. Carmen de Lucas Collantes at our official facebook page:

Thursday, September 29, 2016

Pediatric clinical trial of KRN23

The Phase 3 clinical trial of KRN23 for children from 1 to 12 years old has been announced. This is a head-to-head comparison study of treatment with KRN23 to the current treatment with phosphate/calcitriol, happening throughout the world.

You can find the location information and read more about the inclusion/exclusion criteria here:

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, September 28, 2016

The Network at ASBMR

President Bill Coogan and Board member Gin Jones represented the Network and the XLH community at the annual conference of the American Society for Bone and Mineral Research in September.

Data on the clinical trials of KRN23, the antibody to FGF23, which causes phosphate wasting, were presented during the meeting, and you can read about it at Medscape: or in the press releases from Ultragenyx Pharmaceutical: and

Bill and Gin also met with some of the Scientific Advisory Board members, and attended the Rare Bone Disease event that included a presentation by Scientific Advisory Board member Suzanne Jan deBeur on XLH.

Dr. Karl Insogna spoke at another session on rare bone diseases, focusing on the symptoms and treatment of adults with XLH. He was particularly emphatic in warning clinicians about the problems with prescribing large amounts of phosphorus without adequate amounts of calcitriol/rocaltrol. He also recommended that patients stay active, particularly with non-weight-bearing exercises, like swimming and Tai Chi.

At our official facebook page, , you can see pictures of the booth that was a joint effort by a group of rare bone disease organizations jointly known as the Rare Bone Disease Patient Network, and the poster that summarized some results from a recent study at Quinnipiac University's Frank Netter School of Medicine into XLHers' Gait, Mobility and Range of Motion.

Wednesday, September 21, 2016

Global Genes Patient Advocacy

The Global Genes Rare Patient Advocacy Summit is happening in California tomorrow and Friday (September 22-23). You can register for the livestream here: If you can't watch them live, they'll be available afterwards to watch in the archives.

To get an idea of what the event is like, check out the previous years' archives here:

There are a lot of great topics scheduled for this year's event. One that stood out as particularly relevent to the XLH community is on transitioning care from pediatric to adult healthcare providers.

Global Genes is one of the leading rare disease patient advocacy organizations, and it works to build awareness, educate the global community and provide critical connections and resources that equip advocates to become activists for their disease.

Wednesday, September 14, 2016

XLH Symposium in Paris

Last week, there was a symposium on XLH in Paris for medical researchers and clinicians to learn and share their experiences. It was organized jointly by the RVRH-XLH patients' association and the Reference Center for Rare Disorders of the Calcium and Phosphorus Metabolism, , with help from other medical-professional groups.

Two of our  Scientific Advisory Board Members, Thomas Carpenter and Carolyn Macica spoke at the event. You can see the full agenda here:

One of the Network's directors, Oliver Gardiner, was there to represent our patient community. He reports that the conference was hugely successful, with over one hundred medical professionals attending from over 23 countries  in order to discuss research and developments related to XLH and ADHR.

You can see a picture from the event at our official facebook page, It shows Oliver with the UK medical professionals who attended the event.

Wednesday, September 7, 2016

When to see a doctor

Too often, rare-disorder patients stop seeking treatment, because they're overwhelmed with all the medical appointments and they've come to believe that nothing can be done about their condition.

While it's understandable, it's also risky. Many XLHers have reported not knowing they had a broken bone for weeks or even months after the injury, because the pain didn't feel significantly different from the routine bone pain they'd experienced without having any broken bones.

Once in the habit of ignoring bone pain as just something to live with, it can be easy to ignore pain in other parts of the body. Again, we've heard many stories of XLHers not realizing they had a serious medical condition, because they were used to living with pain and waited longer than they should have before seeking medical treatment.

For most people, it's a fairly simple formula for deciding whether to go to the doctor: if they hurt, they seek treatment. For someone who hurts all the time, it's a more complicated decision, with a lot of trial and error and wondering if the right decision has been made.

For some suggestions that might make the decision a little easier (but not completely easy!), check out this guide from Psychology Today online.

Wednesday, August 31, 2016

XLH Around the World: Peru

Access to good treatment for rare diseases can be a challenge anywhere in the world, but XLH patients are resilient and persistent. 

You can read about a couple of families who are coping with the challenges of XLH in Peru here:

To translate it (roughly), go to, and put the above link into the text box and click on "translate."

Wednesday, August 24, 2016

Working with your health care team

Global Genes ( has a really outstanding webinar (video) at its site with suggestions for working with your health care team about your (or your child's) rare disease.

Three particularly interesting points were:

1) it's useful to write out a brief narrative of what the disorder is and what your experience with it is, and bring it with you to medical appointments to make it easy to tell new health care providers the basic information without forgetting anything important;

2) for children who are hospitalized, there are often "child life" professionals who can help with things that aren't exactly medical treatment, but that make the experience better, so be sure to ask for those services; and

3) for both adults and children who are undergoing a wide range of treatment and have had a case manager assigned at the insurance agency, consider that person part of your medical care team and keep him/her in the loop.

You can watch the whole thing here:

Wednesday, August 17, 2016

Representing the XLH community

Even as we're recovering from an amazing XLH Day in Houston, Texas (more on that next week), we're gearing up to represent the XLH community at other events this fall.

First up is the American Society for Bone and Mineral Research (ASBMR) annual conference in September, to be held this year in Atlanta. You can read about it here:

We are part of the Rare Bone Disease Patient Network, which will have a booth at the conference, and is involved in a workshop that will include brief talks on a number of rare bone diseases. The section on XLH will be presented by the Network's Scientific Advisory Board member, Suzanne Jan deBeur.

Karl Insogna, MD, will be one of several doctors talking about "How Discoveries Lead to Treatment of Rare Bone Disease Treatment." His presentation will be focused specifically on XLH in adults.

In addition, several members of our Scientific Advisory Board will also be there for posters and/or presentations, and we'll report back on the details after the event.

Wednesday, August 10, 2016

What's your story?

The Network's board is getting ready for XLH Day, where we're hoping to hear the stories of everyone there. That's only a small portion of our membership, though, so we still want to hear your stories for our book, Weak Bones, Strong Wills, The Stories of XLH.  

So far, we've got submissions from as far away as Russia! And experiences from people ranging in age from early twenties, born after the current treatment was developed, through to those who were born much longer ago, when the treatment ranged from simply ineffective all the way to potentially harmful.

We've got stories from patients and from parents of patients. We'd really like to hear from a sibling of an XLHer, about living in a family affected by the disorder without actually having it oneself.

We'd also like some more focused bits, thinking about a single incident that characterized a single moment in a long life of challenges. Things like how phosphorus supplements and vitamin D tasted before they were introduced in pill forms -- and all the ways you found to hide them instead of ingesting them! Or dealing with the local bully who made fun of your gait/height. How you overcome someone telling you that you couldn't do something you wanted to do. Or perhaps a recollection of a favorite doctor or nurse or teacher or friend, who made a difference in how you looked at your medical condition.

If you already have a topic, and you're having trouble finding the time to sit down and write your story, or if you get blocked when you sit down to write, consider using a voice recorder app on a phone to tell the story (or get an older family member to tell his/her story) in rough form. Then you can transcribe it and do some polishing, without having to face a blank page!

For more info and for submission rules, go  here:

Don't wait too long. The deadline is October 1, 2016, which will be here before you know it!

Wednesday, August 3, 2016

Have you had joint replacement surgery?

A new research study at Quinnipiac University, led by our Scientific Advisory Board chair, Carolyn Macica, PhD, is looking into XLH patients' experience with joint replacement surgery. Please note that anyone currently in a clinical trial is NOT eligible for this study.

Here's the official description:

We are seeking men and women aged 18 or older with X-linked hypophosphatemia (XLH) who have had a hip or knee replacement to participate in an online questionnaire in exchange for a Starbucks gift card. The purpose of this questionnaire is to learn more about joint replacements in patients with XLH. With the information gathered, we will be able to educate clinicians about joint replacements in patients with XLH.

Step 1: The first step is to determine if you qualify for the study. If you are a male or female aged 18 years or older diagnosed with XLH by a physician and you have had either a hip or knee replacement more than 6 months ago, you qualify to participate in this study. You may not be involved in any current clinical trials to participate in the study.

Step 2: Next, you will be asked to complete an online questionnaire about your joint replacement(s). It will take about 30 minutes to complete, so please make sure you have enough time to give thought to each of your answers. You will also be asked to sign a medical records release form and provide us with your orthopedic surgeons name and office number, so please make sure you have those available before starting the questionnaire. You will receive a $30 Starbucks gift card if you complete the survey.

Think you qualify? Click the link below to begin the survey:

Study HIC#: 6316
Principal Investigator:
Dr. Carolyn M. Macica
Contact Information:

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.

Wednesday, July 27, 2016

Looking to next year

Even as we're putting the final touches on the program for this year's XLH Day in Houston, Texas, we're already thinking about the next event in 2017.

Picking a location starts by finding a keynote speaker. As we're all aware, there aren't that many experts in XLH, and we don't have the funds to transport speakers to our event, so the choice of sites depends on where potential speakers are.

Beyond that, we also look at factors that will increase attendance. That means we're most likely to choose a major metropolitan area (because the population density means there are more patients living within an easy traveling distance) with a major airport for those who might fly to the event. Another important factor is whether there are XLHers in the area who are willing to serve on the planning committee and help out during the event. A nice plus is if there are educational and cultural offerings nearby, like the popular Children's Museum near our previous event in Indianapolis, that might be of interest to anyone thinking of combining the event with a vacation.

Keeping those factors in mind, where do you think we should hold the next XLH Day?

Wednesday, July 20, 2016

Back to school shopping

It's that time of year -- outfitting the kids for back to school. That used to mean trips to the mall, but these days, a good bit of the shopping is done online through Amazon and other digital retailers.

If that's how you shop, please consider using the Amazon Smile program and naming the XLH Network as the beneficiary. It's easy, it'll make you feel good to know that you're contributing to our important work, and, perhaps best of all -- it doesn't cost you anything.

To shop using Amazon Smile, simply go to On your first visit to the site, you will need to select the XLH Network as the charitable organization of your choice before you begin shopping. The site will remember your choice, and every time you shop with Amazon you will benefit our organization and the work we are doing on behalf of families with XLH. If you are already an Amazon shopper, we hope you will consider selecting the XLH Network as your charity of choice and use Amazon Smile.

Another option is to shop using iGive. When you set up an account with iGive and go through their portal to shop at more than 1,700 online stores, a portion of your purchases will be donated to the XLH Network. It is quick and easy, and, once again, you are simply making the same purchases you would make otherwise, but you are benefitting the Network at the same time! You can set up an iGive account here: Just remember to choose the XLH Network as your chosen organization.

Thanks for your support!

Wednesday, July 13, 2016

Breakthrough therapy designation for KRN23

Ultragenyx Pharmaceutical has received "Breakthrough Therapy" designation from the U.S. Food and Drug Administration (FDA) for KRN23 for treatment of XLH in pediatric patients.

This is not the same as getting FDA approval to make the drug available to patients outside a clinical setting, but it is an acknowledgment that KRN23 is the first potential treatment option in development for patients with XLH. The designation is intended to expedite the development and review process when the preliminary clinical evidence indicates that the treatment may demonstrate substantial improvement over existing therapies.

Getting this designation is encouraging news, since it removes some of the delays inherent in governmental reviews, while still providing for patient safety by carefully weighing the benefits and risks.

Tuesday, July 12, 2016

Texas XLH Day registration is closed

Texas XLH Day registration is closed.

We look forward to seeing everyone who's registered, and hope to meet even more people at future events.

Saturday, July 9, 2016

Last chance to register for XLH Day

Registration closes at midnight on Monday, July 11, 2016, so you're almost out of time! Don't risk missing the deadline -- register now at

Wednesday, July 6, 2016

Children and teens at XLH Day

If you're still debating whether to attend TX XLH Day, would it help to know that we're planning some great activities for children and teens? (And we'll also have infant care services.)

Board member Rachael Jones has been involved with the well-received children's activities at the last two XLH Days, and this year's program promises to be even better than before.

Rachael is working on parallel programs for children and for teens. The activities will include a mix of education and fun, teaching "the ABCs of XLH" and "healthy living." There will be opportunities to create art, participate in a science demonstration and attend a mini-carnival of activities. She's also planning small group discussions about living with XLH, led by a licensed mental health professional.

So, register now, for yourself and your kids: Registration ends soon, at midnight on July 11, 2016. Don't miss out on all the education and fun!

Wednesday, June 29, 2016

Writing prompts for the stories of XLH

Sometimes, when writers get writers' block, they turn to "prompts" to get them started. Usually, once they start writing, they can keep going, and it's just getting over that initial hump that's difficult.

Maybe you're experiencing the same thing. You want to write about your experience with XLH for our book, Weak Bones, Strong Wills, but you can't decide which story or don't know where to start. 

No problem. We've got a few prompts for you. If you're stuck, pick one of them and just write whatever comes to mind. You can always go back and edit it. You might even find that you'll drift off into a totally different topic, and that's good too. 

This isn't remotely a comprehensive list of topics, but perhaps one of them will inspire you:
  • What's your earliest memory of treatment? (E.g., Gin remembers, at just-under-three-years-old, getting a shot and learning that it didn't hurt as much if she didn't watch the needle go in.)
  • What's your earliest memory of being different and  how did you cope with it?
  • Is there a doctor, nurse or other medical professional (or perhaps a teacher or friend?) who made a difference in your life, beyond the treatment itself?
  • What would you most like to be different about your life if you could have fixed only one physical thing about yourself (e.g., to be taller or stronger, or to have more energy, better hearing, or fewer dental abscesses), and how would that have changed your life? Would you have answered this question differently at different stages of your life?
  • What was it like the day you met someone else with XLH for the first time (particularly for spontaneous cases who don't have family members with XLH)?
  • Have you accomplished something that people find surprising because of your diagnosis, and how do you deal with their surprise?
  • What's it like to be in a clinical trial as either an adult or a child, and if you've been in them at both age, how were the two experiences the same/different?
  • If you have an older/younger family member with XLH, what have you learned from him/her?
  • How do you explain your condition to other people, and how do they react?
Now, get writing. We're anxious to hear your story! The deadline is October 1, 2016, and the details (submission guidelines) are here:

Wednesday, June 22, 2016

A Texas playlist

We've got some musical inspiration for you, while you're thinking about coming to XLH Day in Texas. (And if you've already registered for the event, don't wait until we send out confirmations between July 12 and 17 to make your hotel reservations. Make them now, and if necessary, you can cancel them without penalty up until shortly before the event.)

To get the playlist started, Board Member Kathy Buchanan suggests "Deep in the Heart of Texas," which was the inspiration for our graphic (so you can sing along, changing the words to "Deep in the BONES of Texas"). Here's the Texas Chamber of Commerce's version:

Board Member Joyce Inman consulted with her entire family, and they had a tie vote for Willie Nelson's "Beautiful Texas" and "Texas in My Soul." You can hear them both on Youtube: and

Gin Jones heard about this new release from fellow Board Member Chris Younger, which seems appropriate for those who are driving long distances to XLH Day (and we know several people are driving more than ten hours!):  Yarn's "Long Way to Texas"

We have a bunch of other suggestions, but unfortunately there aren't official (posted by the copyright owner) Youtube links for any of them, but we're sure you can find them wherever music is available.

Past President Becky Mock suggests Stevie Ray Vaughan's "Riviera Paradise Live from Austin, Texas."

Board Member Chris Younger is himself a musician, so he has several suggestions: Stevie Ray Vaughan's "Texas Flood," Ellen Jewel's "Back to Dallas,"  ZZ Top's "LaGrange," and Miranda Lambert's "Texas Pride." 

Board Member Gin Jones recommends Lyle Lovett's "You're Not From Texas (But Texas Wants You Anyway)."

Board Member Rachael Jones (no relation to Gin!) found one perfectly on point for us: "Houston (Means I'm One Day Closer to You)" by the Gatlin Brothers.

We're looking forward to seeing y'all in August! Make sure to register now, if you haven't already:

Wednesday, June 15, 2016

PHEX mutations database

As we're gearing up  to launch our natural history study platform in conjunction with the National Organization for Rare Disorders (NORD), which you can read about here (, we're thinking about the various pieces of information that it might be useful to collect.

One of those pieces of information is the exact mutation that caused a patient's phosphate wasting. To date, no one has been able to say for sure whether there is any correlation between the specific mutation and the nature/severity of a patient's symptoms. That's certainly something that both patients and clinicians would love to know for sure, though.

Not everyone gets genetic testing, since it can be expensive and not always covered by insurance, but did you know that there's a database of these mutations?

There's a site, maintained by Yves Sabbagh, PhD, that collects these mutations. He explains, "The PHEXdb is a database that collects and makes available all the known mutations that have been identified in the PHEX gene which is associated with the rare disease X-linked hyphosphatemia, the most common form of
inherited/genetic rickets. PHEXdb provides a search engine to query for a
specific mutation and also provides a submission form for people who
would like to submit mutations to the database."

If you know your (or your child's) mutation, and it's not in the database, he'd love to hear from you, and you'd be added to the body of data about XLH. You can submit your mutation here:

Wednesday, June 8, 2016

Texas XLH Day registration is open

Registration is now open for XLH Day in Houston, Texas!

For more information and to register, go to

Wednesday, June 1, 2016

Deep in the BONES of Texas!

It's just over two months to XLH Day (August 13, Houston, Texas) -- have you made your transportation plans yet?

As always, we've got a great keynote speaker -- this year, it's Mary Ruppe, M.D. -- who's putting together a great collection of medical care providers with experience treating XLH patients. There will also be representatives from Ultragenyx Pharmaceutical, and fun, educational activities for children of all ages.

This year's venue will be the the Shriners' Hospitals for Children in Houston. As in previous years, we've made arrangements for special pricing at hotels convenient to the venue for the night before and the night after the event.

Also as we've been able to do for the last two events, we'll be offering reimbursement for one night's hotel stay per family for the first thirty people to register. To be eligible, you'll need to have an active account at discussion platform, so if you haven't joined yet, you can do it now for free at so you'll be ready when registration opens (not yet!).

But that's not all! We're offering some extras this year. For starters, we'll have t-shirts with a design specifically for this year's event. You can see it at our official facebook page: (And thanks to Marah for providing the initial inspiration for the design!)

In addition to the usual informal meet-and-greet on Friday evening,  we're adding another informal gathering on Saturday evening for anyone who wants to stick around for a bit longer before saying goodbye to new friends.

Also new this year: we expect that (almost) the entire board of directors will be in attendance, so you can meet us, ask us questions and let us know how we've helped you and how we can do more for you and your family.

We expect to have registration open on or about June 8th (don't try to register yet, or your information will be lost!). Keep an eye here or at the discussion platform or the official facebook page for updates.

Wednesday, May 25, 2016

Ultragenyx Patient Day 2016

Ultragenyx Pharmaceutical sponsored its annual Patient Day in Novato, California this past weekend for patients with the rare medical conditions that the company is working on treatments for, including XLH. It was a chance for patients and their families to hang out and enjoy the entertainment with people in similar medical circumstances.

Network President Bill Coogan, immediate Past President Becky Mock, and Board members Chris Younger and Kathy Buchanan were all there to mingle with approximately thirty members of the XLH community. They reported that the event was a huge success, topped off with a musical appearance by Michael Franti who had everyone on their feet and dancing.

Bill Coogan reports that there was a solid turn-out of both patients with rare disorders and Ultragenyx personnel. Dr. Kakkis (CEO and President of Ultragenyx) and the mayor of Novato were also both present. Bill enjoyed chatting with the XLHers there, reconnecting with some, and meeting others for the first time.

Pictures are over at the official facebook page:

Wednesday, May 18, 2016

Don't let the stories be lost!

Today, our social media coordinator, Gin Jones, is here to talk about Weak Bones, Strong Will, the Stories of XLH, our planned book on the XLH experience: 

My mother's uncle was a great oral storyteller. Even when I was a self-absorbed teenager, I loved listening to him. Unfortunately, he never wrote his stories down, and we never thought to capture any of them, so they're lost to us now.

Perhaps you have a family member with XLH (or who raised an XLHer) who is a similarly good storyteller. Don't let those stories be lost like my Uncle Charles's! Take some time to record them, either with your smartphone (tips on how to do it here: ) or the old-fashioned way, by taking notes and then typing them up.

Either way, we'd love to read those stories and consider them for publication in our book. We're not set up to transcribe recordings, so you'd need to get them into written form (and a .doc file) by either transcribing them verbatim (and we'll edit them into a narrative) or summarizing them in a narrative format.

It's a win for everyone -- you'll get to spend some quality time with that family member, the storyteller will get a wider audience, and we'll have a documented a bit more about the experience with living with XLH.

Friday, May 13, 2016

Infant KRN23 clinical trials

A trial of KRN23 in infants/toddlers (age 1 to less than 5 years old) is recruiting patients now.

You can read more about it, and get the current contact information here:

At present, the only site is at Yale (New Haven, CT), but we expect there to be additional sites within the United States (not worldwide).

For those with older children interested in a clinical trial, we expect there to be a trial for children age 5 to 12 later in the year, and we'll post the information as soon as it's official and open for recruitment.

If you're considering participation in a trial, please remember that discussion of the details of others' experiences (especially with respect to symptoms and side effects) may have some adverse consequences for the validity of the study. On the other hand, discussions of things like the time commitments, disruptions to daily life and the quality of the staff are safer to discuss with other participants in the trial.

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.

Thursday, May 12, 2016

On participation in clinical trials

If you don't already know about the clinical trials of KRN23, there are two Phase 3 trials going on now for adults, and we expect that there will be a Phase 3 pediatric trial beginning sometime this year. Check back for updates here, or in our discussion platform, or at our official facebook page:

You can read more about the current adult trials here:
and here:

Scroll down to the link to "show study locations" for contact information.

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.

If you're wondering about the experience of a clinicial trial generally, however, we have some insight to share from an XLHer who has participated in clinical trials in the past. He is a male college professor and in his fifties now.

In response to a question about why he enrolled in a clinical trial, he stated he had several reasons, including intellectual curiosity. He added, "As a middle-aged XLHer, any treatment is probably too late for me, but perhaps I can make some type of contribution to 'pay it forward' for future generations that include my two sweet daughters."

He also found the experience educational. He reported, "During the intake process I had the opportunity to meet another XLHer who was being discharged. This individual, a male who was about 30 years younger than me, was unable to walk. We chatted, somewhat awkwardly because of the variance in the extent of our shared illness. It was evident to both of us that his health was visibly and significantly more profoundly affected by XLH than mine. I almost started feeling like an imposter despite the fact that I have had 8 osteotomies. The fact remained: I was standing upright and he was bedridden when not in a wheelchair. It was then that I truly understood the range in the severity of XLH."

This particular member was also in a unique position to be able to use his experience as a teaching moment to educate others: "The best part of my participation in the research trial involved my teaching an online summer graduate research methods class. The students and I 'met' online via conferencing technology. When we began the chapter on Experimental Research, which happened to fall during the time when I was in the hospital for the clinical trial, I had an idea for providing the most authentic learning experience. During our online class discussion, I turned on the web camera and allowed the students to see me, the lab rat, sitting in a hospital bed. I wish I could have seen all 25 of the reactions to this stark reality and authenticity resulting from the true visualization of Experimental Research in action. Several of the students did use the chat window to type things like, 'Wow!' 'Incredible,' and 'You are very dedicated to what you teach!' Two months later I received the highest course evaluations I had ever received in the 5 years I have been teaching research methods."

The only challenges this member experienced were those involved with travel planning, but he reports that the staff who made the arrangements were very helpful.

Tuesday, May 10, 2016

XLH around the world: more from the UK

If you know of XLH-related events happening around the world, please let us know by emailing: XLHstories at gmail dot com. 

Meanwhile, we've got some more news from our board member, Oliver Gardiner, and what's happening in the UK. 

Oliver represents the XLH community in the UK as part of the Steering Group for Rare Musculoskeletal Diseases driven by the James Lind Alliance.

The James Lind Alliance (JLA) is a non-profit established in 2004. It brings patients, cartakers and clinicians together to identify and prioritise the top 10 uncertainties, or 'unanswered questions,' about the effects of treatments that they agree are most important.

The aim is to help ensure that those who fund health research are aware of what matters to both patients and clinicians. The JLA method is designed to lead to changes in the way research funding is granted, with a view to raising awareness of research questions which are of direct relevance and potential benefit to patients and the clinicians who treat them.

The Steering Group Committee are currently in the early stages of planning and Oliver’s presence ensures that the XLH UK community is represented. We’ll be hearing more from Oliver and how you can help the JLA very soon.

Thursday, May 5, 2016

Social media and clinical research

Social media has been a boon for many patients with rare disorders, enabling them to share their experiences with people who truly understand what they're going through.

It's not without its down sides, though. Misinformation can be passed around, sensitive subjects can be distressing, and the negative news can feel overwhelming sometimes. Those things are true of any social activity, whether in person or in the virtual world, but now there's a risk that is particularly associated with the virtual world: the possibility that patients in clinical trials will undermine the trials by sharing their experiences with other patients.

The concern is that patients will "unblind" the study (figure out which patients are on placebo and which are not). Once the study is unblinded, according to a Wall Street Journal article, "Drug makers and researchers ... worry that patients may drop out if they suspect they aren't getting the drug being tested, or may report symptoms inaccurately because of the influence or suggestions of others in the trial."

While there may not be contractual or regulatory provisions against publicly sharing detailed information about clinical trial participation, it's important to keep in mind the risks of tainting the data. The last thing anyone wants is for the equivalent of a "mistrial" to be called and the research suspended or discarded, because the study was unblinded or otherwise affected by outside factors, and therefore the reported outcomes and adverse effects can't be relied upon. You can read more of the Wall Street Journal article here:

Tuesday, May 3, 2016

XLH around the world: Paris

In France, XLH is known as RVRH (comparable to the vitamin-D resistant rickets terminology in English), and there is a French-speaking group known as the "Association pour les personnnes atteintes de rachitisme vitamino-resistant hypophosphatemique." You can check out their website (and Google will translate it for you, so you can at least get the gist of the text) here:

They're currently working with some other European groups on the first Symposium on X-Linked Hypophophospatemia in Paris, France, to be held on September 9, 2016. It's scheduled for the day before the conference of the European Society of Pediatric Endocrinologists, making it convenient for clinicians and researchers who are already traveling to Paris for the larger conference.

Two members of our Scientific Advisory Board will be speaking at the event: Thomas Carpenter, M.D., and Carolyn Macica, PhD. So will Pol Harvengt, a great friend to the XLH Network, and one of the authors of a medical journal article entitled "Therapeutic management of hypophosphatemic rickets from infancy to adulthood," available here:

Plus: Paris in September! Who wouldn't want to go?

The event is primarily for clinicians and medical researchers, as opposed to patients, but if you know someone in the medical community who might be interested in attending, please refer them to the website here:

Thursday, April 28, 2016

The stories of XLH

We're embarking on a new project to collect the stories of people living with XLH in a book tentatively titled, Weak Bones, Strong Wills, the Stories of XLH.

One of the things we hear so often, from patients, caregivers and the general public is "I never knew ...."
  • I never knew anyone like me.
  • I never knew adults with XLH might benefit from treatment.
  • I never knew XLH existed.
The recently announced Natural History project will approach these issues from a data-based, scientific perspective, but we know there's more to a medical condition than the data and science. The Network is already working hard to connect XLHers with others like them (virtually at our forum and in person at XLH Days), educating clinicians about treatment options and raising awareness of the condition generally. We do that through our website, social media, and personal appearances, and those are all important activities, but they're somewhat ephemeral. We'd like to expand our reach with a book that would document the intangible, non-data aspects of our experiences and be a more lasting record of what it's like to live with XLH at a time when there is no truly effective treatment.

We're looking for a wide variety of anecdotes and essays about living with XLH. It could be about life fifty or sixty years ago, when the condition had a different name and doctors didn't know it was a phosphate-wasting disorder. It could be about the excitement of participating in a cutting-edge clinical trial today, which might lead to a cure. Or about something in between.

Everyone has a story (or twelve!), and they don't have to be a professional writer to tell it. If you're an accomplished storyteller, go ahead and send us a polished manuscript. If you're less comfortable with the written word, that's okay too. We still want to hear what you can tell us. Just write up the anecdote as if you were talking to a friend, without worrying about the sentence structure or grammar, and we can work with you to polish it up.

We anticipate having sections in the book to address various stages and symptoms, like getting the diagnosis, skeletal symptoms, dental symptoms, chronic pain, emotional symptoms, other childhood challenges, other adult challenges, the evolution of treatment,  and – don't forget – the successes when challenges are overcome. Stories can be from patients or from the caretakers of patients, but the important thing is that these are the subjective stories of patients, not the objective stories of data that you'd find in a medical journal.

That list of topics is just to start you thinking. Don't let it limit you if you have an interesting story that doesn't fit neatly within those categories. Your out-of-the-box story may be just what we want, and we won't know until you tell it!

Before settling in to write and submit, check out the writers' guidelines and rules for submission here: (Note that you must have an active account at our discussion platform to access this information. You can register here:

Finally, we hope to include as many different stories as possible, but please keep in mind that we won't necessarily be able to include all submissions, especially if there's a lot of overlap in the experiences. Some may simply not be included at all, and others may be excerpted to combine with other related excerpts into a a single essay with several members' experiences.

Tuesday, April 26, 2016

Texas XLH Day: keynote & shirts

Mary Ruppe, M.D., has agreed to be our keynote speaker at the Texas XLH Day on August 13, 2016 in Houston. We've heard great things about her from her XLH patients, and you can read more about her here:

The remainder of the XLH Day program is still being lined up, but we have great things in store for Friday evening and all day Saturday and into that evening. We'll have more information before registration begins in June.

Meanwhile, we're running out of time to come up with a slogan for this year's XLH Day t-shirts. Deadline to submit your suggestion is this Sunday, May 1, at 11:590 p.m., EDT.

Rules are posted (you'll need to have an active account and log in to read them and post your suggestion) here:

For inspiration, we've posted some pictures from last year's West Coast XLH Day in an album over at our official facebook page,

Wednesday, April 20, 2016

Major new initiative

The XLH Network, Inc. has been awarded a grant to establish a Registry and Natural History Study in collaboration with the National Organization for Rare Disorders and the U.S. Food and Drug Administration. You can read the official NORD press release here:

The importance of this type of study cannot be emphasized enough. The "natural history" of a disorder is its progression, from inception to resolution. XLH, like many rare disorders, has never been the subject of a rigorous natural history study, so there is a great deal of uncertainty, particularly about the symptoms in adults, but also with many aspects of childhood treatment. The lack of scientific data makes it difficult for both patients and doctors to make informed decisions about treatment.

This grant will provide us with a customizable, expandable framework to begin gathering the data that researchers and health care providers can use to improve the treatment of XLH patients world-wide.

This is a long-term project and a demanding one, in terms of both human and financial resources. The Network has begun gathering these resources to undertake the work, thanks to the leadership of my predecessor and the many contributions of the board of directors, the scientific advisory board, and our other generous volunteers and donors.

Still, there is a great deal of work to be done and money to be raised to pay for this new and game-changing project. We could use your support now, more than ever. If you'd like to make a donation, the information you'll need is here:

Wednesday, April 13, 2016

XLH around the world: the United Kingdom

Most of our news tends to be about events and people in the United States, and we know that there's so much exciting work going on all around the world. We're going to remedy that, starting now. 

To kick things off, our board member, Oliver Gardiner, who lives in the UK, sent us information about the RUDY project there, which is a combination patient registry and natural history study, both of which are critical projects for understanding diseases. It's particularly important for rare ones like XLH, where no significant natural history study (the whole picture of a condition, from birth to grave) has ever been done. The more data (i.e., patients and their records) that a natural history study has, the more useful it can be for understanding the condition and treating future patients. 

Oliver is part of the External Advisory Committee for the RUDY Study. They met recently at the Nuffield Dept. of Orthopaedics, Rheumatology and Musculoskeletal Sciences at the University of Oxford.

The day was used to analyse current processes with the aim to make our UK XLH patients' involvement as simple and flexible as possible. 

RUDY are a national network of doctors, researchers, patients and families that work together to improve understanding of rare diseases and develop new tests and treatments. They are funded by NIHR Rare Diseases Translational Research Collaboration and the Oxford NIHR Musculoskeletal Biomedical Research Unit, University of Oxford.

Recruitment for the RUDY Study is now open to all patients with XLH who live in the UK and are currently appealing for patients to take part.

If you are interested in finding out more including how to register please check the library on  

And  if you know of something XLH-related happening in your corner of the world, please send it to XLHstories at gmail dot com. We want to hear from you!