Wednesday, December 27, 2017

Latest data on KRN23/burosumab trials

The latest data from 48 weeks into the adult Phase 3 trials are really encouraging. They show continuing improvement in terms of pain reduction, stiffness reduction and improved fracture healing. Perhaps most impressive was the drop in painkiller medications that would seem to be an objective corroboration of the reported pain reduction (and especially encouraging insofar as pain medications carry with them some serious consequences):

[quote]The patient frequency of reported opioid use decreased by 76% from 17 patients (25%) at baseline to four patients (6%) at week 48 in the burosumab group, and by 70% from 13 patients (20%) to four patients (6%) in the crossover group [patients who started on placebo and therefore had only been on burosumab for 24 weeks instead of the full 48]. The patient frequency of reported nonsteroidal anti-inflammatory drugs (NSAIDs) use decreased by 72% from 47 patients (69%) at baseline to 13 patients (19%) at week 48 in the burosumab group, and by 74% from 43 patients (65%) to 11 patients (17%) in the crossover group. [/quote]

You can read the full report here:

Wednesday, December 20, 2017

Happy holidays!

We wish you happy holidays and a healthy new year!

You can see our holiday card at the official facebook page,

Meanwhile, the board is taking a brief break to get prepared for what we hope will be a life-changing year for the entire XLH (and related hypophosphatemias) community.

Tuesday, December 19, 2017

Paid Market Research Opportunity

A company by the name of Magnolia Innovation is doing some market research relevant to the XLH community. They're offering a $125 payment for about an hour of time (beginning in January). Adult patients and the parents/guardians of minor patients are eligible to participate. For more information, visit :

NOTE: The XLH Network, Inc. does not endorse or critique marketing research projects, and does not counsel individual patients either for or against participation in any marketing research project. Prospective volunteers should always carefully review the researcher's documentation, and discuss the pros and cons of participation with trusted advisers.

Friday, December 15, 2017

Positive European Medicines Agency recommendation for KRN23/burosumab

Excellent news for the European members of our community!

According to a press release today from Ultragenyx and Kyowa Hakko Kirin, "the Committee for Medicinal Products for Human Use (CHMP), the European Medicines Agency's (EMA) scientific committee, has adopted a Positive Opinion recommending the conditional marketing authorization of burosumab, an anti-FGF23 human monoclonal antibody, for the treatment of X-linked hypophosphatemia (XLH) with radiographic evidence of bone disease in children 1 year of age and older and adolescents with growing skeletons."

There's more work to be done before the treatment will be available to patients in Europe, but this is a huge leap forward! A final decision needs to be made by the European Commission, and is expected in the first quarter of 2018. It will apply to all 28 countries of the European Union, Norway, Iceland and Liechtenstein, but individual countries will still need to do additional reviews, largely with respect to payment issues, rather than safety and efficacy issues.

You can read the entire press release here:

Wednesday, December 13, 2017

Advocacy in Spain

A group of patients in Spain have formed an organization called the Spanish Association for Hypophosphatemic Rickets and Osteomalacia (AERHyO), and are working hard on behalf of the approximately fifty known patients in Spain and the hundreds more that are misdiagnosed or simply haven't been identified. They also held their first patient day on November 17th of this year.

You can read more about their group and the Spanish Agency for Medicines and Health products (the country's equivalent of the U.S. Food and Drug Administration) here:

Wednesday, December 6, 2017

Advocacy at the FDA

Seven members of the XLH community went to the U.S. Food and Drug Administration on Monday to argue in favor of approving KRN23/burosumab for the treatment of XLH in both children and adults. The focus of our presentation was that XLH is a whole-body, whole-life disorder, not limited to bone growth issues and not limited to childhood.

Executive Director Carol LaFleur led the presentation with an overview of our position and some stories by patients who could not be present in person. Dr. Suzanne Jan deBeur talked about her concerns as a clinician and shared some of her patients' experiences during the clinical trials. Network Vice-President Joyce Inman talked about the research that we'll be embarking on in 2018 with our natural history study and about her experience as the mother of a spontaneous XLHer. Network Treasurer Geoff Edelson, Director Gin Jones and Network member Marina Velazquez shared their experiences as adults with XLH.

There were about two dozen representatives of the FDA present to to hear our stories. While of course they could not tell us anything about the ultimate decision that they'll be making, they were attentive and acknowledged our concerns that too little is understood about XLH, particularly in adults, and that while symptoms vary, at least some adults need ongoing treatment.

The FDA's decision is due April 17, 2018. We won't be sitting back and idly waiting for the decision though. We have a lot of work to do in the meantime to make sure that everyone is ready for what we hope will be the approval of burosumab for treatment of XLH in both children and adults.

Wednesday, November 29, 2017

Patient advocacy around the world

The weekend of November 4th, patient advocates for the XLH community gathered in Frankfurt, Germany. Two board members, Oliver Gardiner and Elizabeth Olear spoke at the meeting, sharing their personal experiences and those of the Network.

Elizabeth and Oliver interacted with representatives from France, Belgium, Spain and Denmark, along with employees of Ultragenyx and Kyowa Kirin International (the company bringing KRN23/burosumab to market in Europe). A consultant helped guide the interactions, and we hope to see the conversations come to fruition with some great collaborative projects in 2018.

You can see pictures from the event at our official facebook page here:

Tuesday, November 21, 2017

Sharing your passions

Kimberly Murray is a member of the Network who has XLH herself and a daughter with XLH. She recently participated in a couple of fundraising efforts, and she's here to tell you why and how she did it. 

October has always been my favorite month. For one, it's my birthday month. It is also a time Louisiana has some of its best weather. Not too hot, low humidity, and a light airy breeze making it just cool enough for a cute sweater/scarf combo. October is also special because it's the month when XLH Day is celebrated, so it seemed appropriate to donate all of my birthday money this year to The XLH Network, Inc.

I'd hoped that my husband, daughter and I would all be able to attend XLH Day this year, but sadly we just couldn't fit it into our schedule. So I decided to start my own social-media-based fundraiser for the Network instead. I have a lot of family and friends who follow my and my daughter's story on having and dealing with XLH, and they are always asking how they can help, what they can do. For one two-week period right around my birthday, I asked all of my friends and family if they could donate to my XLH fundraiser. I set a goal, an end date, and went public.

I was overwhelmed with the amount of love, support, and donations made to my fundraiser. I had exceeded my goal! Fundraising can be so much fun when you stay motivated and never lose sight of the finish line.

It also helps to get other involved. I had many close relatives and close friends help share my story. When you are able to share your passion with others, you are opening doors to educating them on the importance of awareness. And this awareness can be anything that holds significance and vitality in one's life. For myself and my family, it is the Network.

The amount of donations I received in a short two-week period has encouraged me to continue and increase my involvement in sharing and spreading awareness of XLH via social media, local spotlights, and of course fundraising. One of my next goals will be to encourage people to sign up as sustaining donors, who give a set amount every month or year, which helps the organization with its budgeting.

Next up is #GivingTuesday! I am proud to serve as a #GivingTuesday Ambassador (someone who will spread the word about a cause) for The XLH Network! You can find my #GivingTuesday peer-to-peer fundraising page (or start your own) here:

Wednesday, November 15, 2017

FIghting the fundraising fears

Susan Faitos is an XLHer who has helped us with XLH Day in the past. She's here to talk about what it was like to do a peer-to-peer fundraiser for the Network. 

When The XLH Network, Inc. reached out for volunteers to participate in peer-to-peer fundraising this past summer, I was torn. It was important to me to support the Network, but I was very nervous about reaching out to people to ask for money. I was also uncomfortable with the idea of drawing attention to my medical issues. It brought back all kinds of childhood anxiety about the social stigma of being "different."

I decided to push through my fears and do it anyway. I created my fundraising page and sat at my computer staring at the send button for quite a while. Could I really do this? What would people think? Did I want this kind of attention?

I finally took a deep breath, sent the emails and posted it to Facebook, pretty much terrified of what the response would or wouldn't be.

For the next few days I was often brought to tears…in a good way. The response and the personal messages I received from current and childhood friends, long-lost cousins, colleagues, etc. was amazing. I've had donations from people from all walks and eras of my life, and the generosity has really astounded me. I had no idea so many people in my life could be so supportive and encouraging about my personal experiences and my fundraising goals.

As a result, I'm feeling a huge surge of gratitude and self-esteem. This was such a rewarding experience, and way beyond what I imagined when I first hit "send." This may have been a fundraiser for The XLH Network, Inc., but the benefit to me personally went further than any dollar amount ever could.

For more information on how you can help, perhaps by doing a peer-to-peer fundraising project like mine, check out the Network's #GivingTuesday page here:

Wednesday, November 8, 2017

Bowl-a-thon for the Network!

One of our members, Robert DeRemer, Jr., found a great, fun way to help the Network, and we asked him to share a bit about his inspiration and process. At our official Facebook page,, you can see a picture of Robert with Scientific Advisory Board Chair Carolyn Macica, who inspired him, and the Network's president, Bill Coogan. 

My name is Robert DeRemer, Jr. I am currently 51 years old. I was diagnosed with XLH when I was seven. A few years ago, it came to my attention that the Frank H. Netter School of Medicine at Quinnipiac University in North Haven CT was recruiting people with XLH to investigate their mobility, strength and flexibility, and to talk about how patients manage their lives.

I was lucky enough to be approved for the research study, where I met the principal investigator Carolyn Macica. The entire faculty and students from Quinnipiac were great to us during the tests. Right from the beginning, I could tell that Dr. Macica was very dedicated to the field of XLH. She strives to do the best to educate people about the rare disease as well as expand her own horizons through many research projects. She continues to be a source of support for me.

As XLH Day 2017 approached, Dr. Macica mentioned that help was needed to raise funds for the event. Since I'd just started to bowl (as a result of progress in my physical abilities after joining a clinical trial), I thought to myself: How about a Bowl-a-thon?

My plan then went into action! The bowling alley was very supportive and through friends I was able to find a DJ that would volunteer his services. I also secured raffle items from many local businesses for gift cards/certificates or baskets. We ended up with over 20 raffle items! The bowling alley also donated a portion of the proceeds from each game and shoe rental. In addition, I raised funds online so that those who didn’t live locally could also support the event. In the end, I was able to raise a thousand dollars for The XLH Network, Inc.

The money was donated to The XLH Network, Inc., during XLH Day, as my way of honoring Dr. Macica. I couldn’t think of a better person to honor with donating in her name. I would like to thank Dr. Macica for everything she does for those living with XLH. I would also like to thank the Network for all they do in support of patients and giving those living with XLH a voice.

What I learned from the fundraiser is that even with a disability such as XLH, we don’t have to sit back and watch the world pass us by. When I started, I had no idea how to go about hosting a fundraiser. I just went forward with a goal in mind of helping. I never dreamed that I could host an event that would raise a thousand dollars, but I did. If I can do something like this, you can too!

For more on how you can help, check out the Network's #GivingTuesday page:

Wednesday, November 1, 2017

Message from the President, Bill Coogan

It's not often that something life-changing happens to an entire global community, but that could be true for XLHers of all ages in 2018. Next year may see the approval, all around the world, of the first-ever treatment for XLH (and the related hypophosphatemias) that gets at the root of the problem (phosphate wasting).

But the treatment will only help if the relevant people know about it! Our next big challenge will be to reach everyone in both the patient population and the medical community and then to educate every last one of them about the realities of living with XLH, why treatment is necessary and what the treatment options are.

At the moment, there's a huge disconnect between what the experts know and what's happening in the day-to-day treatment of XLHers by non-experts. While some medical providers are current on their understanding of XLH, there are far too many instances of uninformed medical providers telling patients that there's nothing that can be done to help them (or that their symptoms are unrelated to XLH). Some patients can challenge the bad advice, but may not be able to find any better medical provider, depending on where they live. Or they may lack the knowledge or the resources to successfully challenge their medical providers' statements.

We plan to work on both sides of those conversations. Some initiatives will focus on educating the medical providers so they'll give better advice, and other projects will focus more on educating the patient community about current options so no one will be discouraged by outdated advice.

For the health care providers side of the equation, we'll be attending more medical conferences than ever, including possible going to the meetings of the American Association of Nurse Practitioners and the American Academy of Clinical Endocrinologists; and holding a Patient-Focused Drug Development meeting (attended by a representative of the FDA) in conjunction with XLH Day 2018 (in the Baltimore/Washington area) to create materials (patient testimony and guided discussions that are videotaped and then transcribed for dissemination) about the adult symptoms of XLH.

For the patient side of the equation, we'll be creating and sharing some short videos by experts on various aspects of XLH and publishing age-appropriate materials to help children understand their XLH. Plus, as we've done for the past seven years, we'll be offering the community all the resources of XLH Day, with expert speakers and a chance to network with other XLHers and their families.

But first, we need to be sure we have the resources we need to carry out these initiatives at a critical time for the XLH community. In a few weeks, we'll be participating in #GivingTuesday (November 28th), and before then we'll share the details of how you can get involved, not just by sending money, but also by sharing our Tweets and Facebook posts in your social media circles.

You don't have to wait until then, of course! We aren't waiting to start the necessary work, after all. Donations can be made here any time:

Wednesday, October 25, 2017

Working with your doctor

We've all experienced it: the doctor who won't listen to the patient. It's not limited to rare disorders like XLH, but it becomes particularly challenging with conditions where there isn't a lot of scientific literature or even consensus, so you can say, "Look, you're wrong. It says so right here."

Sometimes the answer is to fire the doctor and find a new one, but that's not always an option. There may not be another specialist within a reasonable commute radius, or you may just be too beaten down from your health issues that you don't have the energy to fight the inter-personal battle.

So, what else can you do? Doctors aren't necessarily trained on how to talk to patients, so you may need to teach yourself how to talk to them, to increase the chance of them listening to  you. Global Genes has a webinar on the topic here:

You might also find their toolkit on a "care notebook" to be useful. Having dates and lab results and other facts right at your fingertips can make your communication effective. Download the tookit here:

In addition to the sections and materials recommended by Global Genes, consider writing down concise answers for some common questions so you can refer to them as needed and don't get caught tongue-tied when asked. Start with  a simple explanation for what XLH is (e.g., a genetic, metabolic, phosphate-wasting disorder that affects bone, teeth and muscle), which is particularly useful when you're seeing a doctor for reasons other than your XLH treatment, like a routine physical. A list of  your main XLH-related symptoms (e.g., bone pain, arthritis due to misaligned joints, calcifications, spinal issues, fatigue) can be useful whether you're seeing a specialist or your primary care provider. When you have a lot of issues, it helps the doctor to know which ones are the biggest problems for you. And finally, for a specific appointment, try to identify ahead of time the one particular symptom you're looking to improve (e.g., pain management, reduction in fatigue, increased mobility, improved range of motion), rather than presenting with a whole litany of problems, which can be almost as overwhelming for the doctor as it is for you!

To get your notebook started, consider downloading a copy of each of the Network's brochures to include for easy reference. You can find the main brochure here:
and the dental ones here:

There's also a wealth of information at the forum that you can print for your notebook, including research citations you may wish to share with your doctor (or study yourself before talking to your doctor). You can find them in this thread (after you log in):

Thursday, October 19, 2017

Survey ranking symptoms

As part of our preparations for meeting with the U.S. Food and Drug Administration as part of its review of KRN23/burosumab, we've created an extremely brief survey about the most well-known symptoms of XLH.

The survey is just four questions and takes less than a minute. It will only be open for one week, until midnight on October 26, so don't miss out on this opportunity for your voice to be heard.

You'll find the survey here:

Tuesday, October 17, 2017

The next generation

During XLH Day, our Scientific Advisory Board offered special recognition to a high school student, Lindsay Peifer, for her dedication to science.

Lindsay's XLH was confirmed by DNA testing and is spontaneous, which, she says, is "pretty obvious because I'm a full foot shorter than the rest of my family."

Like many other XLH patients, she grew up with many hospital visits to see specialists and had corrective surgeries, but unlike many others, she became fascinated with biology and the health sciences, especially genetics. In high school, she worked with the Network's Scientific Advisory Board chair, Carolyn Macica PhD, and John Sterpka to find her specific gene mutation by extracting my DNA from her cheek cells and preparing it for sequencing. She then presented her project at her school’s symposium and was interviewed by a local news station. She plans to study pre-medicine and genetics, cell biology, and development at the University of Minnesota, Twin-Cities, so she can help other people with rare diseases in the future.

During XLH Day, she did a presentation that addressed how she became interested in science in the course of trying to understand her own health, and then laying out what she'd learned in the course of her school project.

Thursday, October 12, 2017

What should the FDA know about XLH?

The XLH Network, Inc. will be meeting with the U.S. Food  & Drug Administration on  December 4, 2017 [previously set for January 2018], to make sure that the patients' (and their families') voices are heard as the FDA considers the safety and efficacy of KRN23/burosumab and whether to approve it for treatment of both children and adults.

As we're planning our presentation, we want to do our best to cover the entire spectrum of what it means to live with XLH. As we all know, XLH affects so many systems of the body, and there's a wide variation in symptoms and severity. We know what we ourselves have experienced (or what our family members have experienced), what we've read on our listserv, forum or Facebook page, and what we gathered from XLH Day attendees this year.

But we still don't have the full story. We don't have your story.

What would you tell the FDA  if you had just two minutes to give them your message?

If  you don't know where to start, here are some things to think about: Perhaps you'd want them to know about your biggest XLH-related challenge in your career or personal life. Or maybe there's one particular XLH symptom that, if treated, would improve your life dramatically. How would your life be different if you didn't have that particular symptom, even if you still experienced other symptoms? Is there something you've always wanted to do, but felt you couldn't because of your XLH? Or, for those of you who have XLH and also a child with XLH, is there one thing in particular that you wish your child wouldn't have to experience the way you did?

Send your message no later than November 1, 2017 to  Our time with the FDA is going to be brief, so we need to ask you to keep your message concise, no more than one hundred words (that's about half of a double-spaced page) and focused on the one XLH-related challenge for which you would particularly like a medical solution.

Thank you for helping us tell our community's story. Together we can make a difference and help the FDA understand the need for this new treatment, as well as for additional research.

Wednesday, October 11, 2017

FDA due to rule by April 17, 2018

The U.S. Food and Drug Administration has set the calendar for its review of KRN23/burosumab, the promising new treatment for XLH, and granted "priority review" status that will expedite the process. A decision is due from the FDA by April 17, 2018.

Tuesday, October 10, 2017

Get your copy now!

Our book, Weak Bones, Strong Wills, the Stories of XLH is available now at major online retailers!

Here's an excerpt from the back cover copy:

Our bones are soft, our lives are hard, but we are strong and resilient. We persevere, despite all the challenges. But if there's one thing that can slow us down, it's the lack of solid information about the real-life consequences of our rare medical condition. That's why we're here to tell the real stories of XLH and the people affected by it. Not the medical jargon, not the numbers and charts, but the real-life experiences of patients and their families. 

Thank you to everyone who submitted a story. We couldn't have done this without you!

Once you've read the book, we hope you'll post a review at your distributor of choice. Reviews are especially important for reaching readers who may not know anyone with XLH, but would like to read about what it's like to live with a rare medical condition, as well as those who have XLH but haven't heard of the Network yet!

Here's where you can get your copy:

Paper copies

Digital copies

Wednesday, October 4, 2017

How non-scientists can affect medical science

While we're preoccupied with the final arrangements for XLH Day, we thought you might be interested in a TED talk by Sharon Terry on how she came to embrace citizen science, despite having no background in medicine. She is President and CEO of Genetic Alliance and the founding CEO of a research advocacy organization for a genetic condition that affects her two adult children.

You can watch it here:

If Sharon's talk inspires you too, consider contacting our Executive Director, Carol LaFleur, at to see how you too can get involved in advocating for the XLH community.

Wednesday, September 27, 2017

What we've been up to

Much of the time, we're focused on the future -- what we've got planned, what we anticipate will affect the community going forward, and preparing you for the challenges we're all facing as we work to improve the lives of XLHers and their families.

This week, though, even as we're busy putting the final touches on XLH Day, we'd like to take a moment to review what we've accomplished so far this year:

The Natural History Study's initial beta version is complete and IRB-approved, while the more extensive, Phase II disease-specific questions have been compiled and reviewed by experts in the medical community. By the time the study is complete in ten years, we expect that there will be questions (and answers!) for as many as a dozen categories of symptoms/treatment. You can imagine the work it took to come up with comprehensive questions that were approved by the experts as using the correct terminology, while also being comprehensible to non-scientists like us. We are also working on forging collaborations that will allow the study to be even more user-friendly and comprehensive for our patient community.

Our book, Weak Bones, Strong Wills, the Stories of XLH, which was two years in the writing/editing/publishing (and more like five years in the planning), is ready for release on October 6th. As far as we can tell, it's the first and only widely published book of rare-disease patients' experiences written by the patients themselves, rather than filtered through the words of health care providers. We'll have links soon so you can get your own copy or send them to friends/family.

XLH Day this year has the most ambitious schedule ever, building on the experience we've gained during previous events.

Two board members and the Executive Director attended the annual conference of the American Society for Bone and Mineral Research (ASBMR) in Denver Colorado earlier this month, interacting with the people who have the expertise necessary to find a true cure (as opposed to the intermediate solution of an effective but ongoing treatment) for XLH (and the related phosphate-wasting disorders like Tumor Induced Osteomalacia).

We published a new and updated (to include information on FGF23) dental flyer for medical professionals. You can download it here to share with your dentist or oral surgeon:

We'be been keeping a close eye on the governmental review of KRN23/burosumab as the clinical trials are ending, data is being released and applications are filed with the European Medicines Agency and the U.S. Food & Drug Administration. If you missed any of this information, you can find the collected press releases at our forum here:

That work was all in addition to the routine (but oh so necessary) work of maintaining our website, keeping the forum and social media filled with useful information for you, and making sure we have the funds we need to keep going, not just for the next few months but for the long term.

As if that weren't enough, we've spent countless hours on several major projects that aren't quite ready to be shared. Often, ideas that are generated during strategic planning, board meetings or conferences can take months or even years to come to fruition. We expect at least a couple of them to be revealed during XLH Day weekend, so stay tuned!

We're working hard, and there's never enough time or money to do everything we want to do. Still, we'd love to hear from you about additional projects you think we should be working on. And if you'd like to help, either financially or with your time, you can donate here. Or contact our Executive Director, Carol LaFleur, about other ways you can help, .

Wednesday, September 20, 2017

KRN23/burosumab trial data presented at ASBMR

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

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

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

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

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

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

Monday, September 18, 2017

XLH Day Registraton is Closed

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

Saturday, September 16, 2017

Final reminder for XLH Day

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

Wednesday, September 13, 2017

Last chance to register for XLH Day

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

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

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

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

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

Wednesday, September 6, 2017

Explaining about life with XLH

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

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

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

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

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

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

Wednesday, August 30, 2017

Bone biopsy data

First, a quick note -- if you've registered for XLH Day (or plan to) and don't have your hotel reservations yet, make them now. The discounted rate is only good through September 5. Also, if you'd like to apply for financial assistance with the hotel cost, apply before September 5. Instructions for both hotel reservations and hotel stipend here:

Now for the news: Ultragenyx Pharmaceutical has released some very encouraging results from the clinical trial involving bone biopsies of patients before and after treatment with KRN23/burosumab. Note that the results from after treatment are only for two patients, an obviously tiny sample size!

Here's the summary from a recent press release: 

Bone biopsy results from the first two adults in the bone quality study will be included in the burosumab BLAIn this study, baseline biopsies obtained from 11 patients confirmed that a majority of the patients had severe osteomalacia with a mean osteoid volume/bone volume of 26% vs. normal range of 0.3%-3.1%. These data verify that adult XLH patients have severe underlying bone disease even many years past puberty. Follow-up biopsies after 48 weeks of burosumab treatment are available from the first two patients. For these two patients, osteoid volume/bone volume was decreased from 24% and 29% to 9% and 7%, respectively. Osteomalacia was characterized by the pathologist as improving from severe to mild disease. Additionally, a post-hoc statistical analysis of bone fracture healing in the recently announced adult Phase 3 placebo-controlled study showed an odds ratio of 7.76 for complete healing of fractures and pseudofractures in the burosumab group compared to the placebo group (p=0.0004) at 24 weeks.

You can read the entire press release here:

Friday, August 25, 2017

Application for FDA approval of KRN23/burosumab filed

The application for approval of KRN23/burosumab has been filed with the U.S. Food and Drug Administration, according to a press release by Ultragenyx Pharmaceutical and Kyowa Hakko Kirin.

The filing sets a number of timeframes in motion. The first one is a sixty-day review period that's just to confirm that the application meets certain technical requirements, rather than a substantive review of whether the treatment is safe and effective. At the end of that time period, the FDA will set other deadlines for action. You can read the full press release here:

The Network will be following the process closely and sharing what we learn with our community. We'll also be sharing some news about how your voice can be heard during the review process, as soon as we have the details worked out.

Stay tuned for updates, because things may start moving fast now! The new treatment has already been given breakthrough treatment designation for pediatric treatment, which should mean shorter turnaround for the FDA's review process. If you're not already following us on social media, make sure to do it now, so you'll get the latest news right away. 
Twitter: @XLH_Network

We'll also be talking more about the FDA process at the forum over the next months. You can find the thread here (where you'll need to log in first, or register if you haven't already):

Wednesday, August 23, 2017

XLH Day reminder

Can't decide whether to come to XLH Day this year? Perhaps some pictures from last year's event will help. You can see them at our facebook page here:

Meanwhile, there's only three weeks left to register here:

And if you've already registered but haven't made your hotel reservation, please make it now. The special reduced rate is only guaranteed through September 5th (ten days before the event registration closes).

When making reservations by telephone, request the XLH Day group rate. For online booking, use this link and reference the XLH Day block:
Alternatively, call the front desk at (203)239-6700 and reference the XLH Day block.
Reservations may be cancelled without penalty up to October 4, 2017.
Thanks to the generosity of an anonymous donor, the Network has funds available for a limited number of stipends for reimbursements of the hotel cost, and they will be awarded based on financial need. If you would like to be considered for this reimbursement, please send an email to, indicating that you would be financially unable to attend without a stipend and which night(s) you plan to stay (Friday and/or Saturday). Note that to be eligible for reimbursement, you must be a member of the Network, and the name on the hotel registration must be the same as the name on the event registration. For those seeking reimbursement of the hotel cost, you will be notified no later than September 12, 2017, whether you have been approved for reimbursement and the amount of the stipend. Details of the reimbursement procedure will also be provided at that time. Even if you will be reimbursed for the hotel cost, you must make your own hotel reservation and provide a credit card to cover any incidental expenses (e.g., room service).

Wednesday, August 16, 2017

The experts behind the Natural History Study

We are excited to let our members know that the XLH Patient Registry and Natural History Study is coming together! A project like this is essential for providing researchers with the information they need both to ask and to answer questions about hypophosphatemic disorders.

From big picture snapshots of the XLH population of patients to more narrow questions that consider whether or not there are actual links between hypophosphatemia and other system disorders such as Chiari malformations, the Natural History Study will provide qualified researchers with instant access to the data necessary to begin their research.

In order to create a study that will be valuable to researchers, we are working with experts across the world to ensure that our questions capture the correct content and are accurately worded (no easy task!).

Dr. Yves Sabbagh (creator of the PHEX database, which contains the known genetic mutations responsible for XLH) provided insight for our genetics survey. Dr. Tom Carpenter weighed in on enthesopathy. Dr. Carolyn Macica reviewed the questions related to pregnancy and nursing.

In all, we have nine experts from four different countries providing their expertise and insight to help ensure that this project is as productive for members and their families as it can possibly be. It has been a true team effort, and we are so grateful to these doctors for donating their time and experience to this project.

The Network’s Registry and Data are part of the National Organization for Rare Disorders’(NORD) Natural History Program.We are thankful for NORD’s investment in the health and wellbeing of all rare disorder communities, including ours.

Wednesday, August 9, 2017

XLH: it's not just for kids any more!

Last year, when Network board members had a booth at the Endocrine Society's annual conference, the most frequent statement they heard from passing doctors was "Oh, I don't need to know about XLH because I only treat kids."

The board members jumped up and down, pulled their hair out and dragged the doctors back to the booth (slight exaggeration there; professional demeanors were maintained, despite all temptation to the contrary) to say, "It's not just for kids any more!"

Of course, we know it's never been a kids-only disorder. It's just that the adult symptoms weren't well known before the Network connected patients who could share their experiences and get confirmation that there was a pattern to the symptoms, that they weren't alone in developing calcifications and arthritis much earlier than the general population, or in needing joint replacement well ahead of the usual timeframe. At the same time, a few doctors like Karl Insogna at Yale University, Michael Econs at Indianopolis University and Suzanne Jan deBeur at Johns Hopkins University began treating larger numbers of adult XLH patients and noticing the pattern of adult symptoms.

The problem now is that the facts about adult issues, well known to patients and the few experts, haven't been absorbed by the broader medical community. There's an often-quoted statistic that it takes seventeen years from the time medical research establishes something definitively until the findings from that research are used by the clinicians treating patients, and it wouldn't be surprising to find that it can take even longer for rare diseases.

Even pediatric endocrinologists who treat a lot of XLH kids may know a lot about the childhood issues, but since they don't see the later progression of the condition after the patients leave the practice, they may be unaware of the adult issues. It's often assumed that the successful straightening of legs with childhood treatment will take care of all the problems, but we're seeing now that that is not the case. Patients who were treated after Phos/calcitriol first became available shortly before 1980 are now in their twenties and thirties and are still reporting a recurrence of bone pain and a variety of more significant joint issues than others their age.

Destroying the myth that adults have no symptoms is a major undertaking, but one that the Network will pursue with our community's support. We're confident that someday, board members will go to a medical conference and no longer have to explain, "It's not just for kids any more!"

Wednesday, August 2, 2017

The basics of XLH genetics

Technically, XLH refers to hypophosphatemia that is "X-linked" (i.e., the relevant genetic defect is on the X chromosome), and the genetic transmission is explained below. Note, however, that the "autosomal dominant" version (where the relevant genetic defect is not on the X chromosome) is informally referred to as XLH, since the symptoms and treatment are the same, but the genetic transmission is slightly different. The only way to know for sure which version a patient has is through genetic testing. Whether the defect is on the X chromosome or elsewhere does not appear to affect the symptomatology, although there is no scientific research on the topic.

There's a good explanation of the genetic transmission of x-linked conditions (both dominant and recessive; keep in mind that XLH is a DOMINANT condition, while there are both dominant and recessive versions of the autosomal hypophosphatemias) here (and click on the illustrations if you're a visual learner):

You can find information about autosomal transmission there as well. Again, it is believed that in MOST autosomal cases, the condition is DOMINANT, although a vanishingly small number of recessive cases have been identified.

The simple version (for true X-linked hypophosphatemia) is:

A woman has a 50/50 chance of transmitting the defective gene to each of her children, who will then have XLH. If she has four children, regardless of their gender, the odds are that two would have XLH and two would not. (Of course, that's just a statistical average, and actual outcomes may be different.)

A man will transmit the defective gene to ALL of his DAUGHTERS ONLY (and none of his sons). Thus, statistically, if he has four children, and two are girls and two are boys, then both girls will have XLH and neither boy will have XLH.

One frequently repeated myth is that someone can be a "carrier" for XLH without having the condition him/herself. That is only true of recessive conditions, and X-linked hypophosphatemia (including most autosomal versions) are DOMINANT. That means that if the person has the genetic defect, and is capable of passing it on to the next generation, he/she will also have hypophosphatemia.

This misconception arises from three common situations with XLH: 1. the symptoms are variable, so a mildly affected parent (especially women who tend to have less severe symptoms at least during childhood and early adulthood) may not be aware he/she has it until his/her child is diagnosed with XLH and doctors then check the parents' blood levels for phosphorus wasting. If the parent is never properly diagnosed, it may appear as if he/she was a carrier.  2. There can be some confusion even by genetic counselors, since most x-linked conditions are recessive, rather than dominant, so the counselor may assume that XLH is recessive, and therefore has carriers. 3. Finally, a substantial number of XLH patients are "spontaneous" cases. This just means that the defect first occurred in that patient's DNA during conception, much like any birth defect happens.

There's a natural, human tendency to want to explain away the spontaneous mutation, to look for someone in the family who might have had been a carrier. Unless that person was one of the patient's parents (see the first example of an undiagnosed case) who simply hadn't been diagnosed, there won't be an answer in the family tree. The mutation is simply a random event. Neither parent has XLH and neither parent is a carrier. The child simply has a new, or "spontaneous" mutation, and the children of the spontaneous XLH patient will inherit in the pattern described above.

Wednesday, July 26, 2017

Unanswered questions

As we were starting to construct the first-ever comprehensive natural history study of XLH, we realized it was a huge challenge, because, unlike some conditions, XLH affects pretty much every system of the body.

Scientists divide the human body into ten systems: 1) cardiovascular, 2) digestive, 3) endocrine, 4) integumentary/exocrine, 5) lymphatic/immune, 6) musculo-skeletal, 7) nervous, 8) renal/urinary, 9) reproductive, 10) respiratory.

It's immediately obvious that the endocrine, musculo-skeletal and renal (kidney) systems are relevant to XLH. The endocrine system regulates phosphorus and FGF23, muscle function and skeleton structure are adversely affected by elevated FGF23 and low phosphorus, and the kidneys are where the phosphate wasting occurs. Some digestive issues have been reported with phosphorus supplements. Some XLHers have nerve involvement as a secondary effect, when calcification impinges on nerves or when the patient has a Chiari malformation or syringomyelia (both of which may or may not be related to XLH).

What about the other, less obviously affected body systems? Wouldn't it be good to know if there's any correlation between XLH and an increased (or decreased!) risk of heart disease or elevated blood pressure? Between XLH and lung conditions? Between XLH and infertility? Or, more generally, and crossing a variety of systems: is there any correlation between XLH and an increased/decreased incidence in various forms of cancer? And what about pain and its treatment: what's the nature/extent of the pain, what's being prescribed and what, if anything, is most likely to be effective?

No one has those answers, in part because the questions have never been asked in a rigorously scientific manner. But we're hoping to change that soon!

The Network’s Registry and Data are part of the National Organization for Rare Disorders’(NORD) Natural History Program.We are thankful for NORD’s investment in the health and wellbeing of all rare disorder communities, including ours.

Wednesday, July 19, 2017

School's back .... Well, almost

It may only be mid-July but in just a few short weeks, school will be back in session! It can be a hectic time of the year, from shopping for clothing to making sure everything on the supply list is in the backpack before the first day.

Did you know there’s an easy way to shop for back to school AND support the Network at the same time? That’s right…and you can do it all from the comfort of your own home. No trips to the mall, no worrying about parking, no hustle and bustle. A few short clicks of the mouse and you will have everything you need and benefit those living with XLH.

When you shop on Amazon Smile or IGive and choose The XLH Network, Inc. as your charity, a portion of your purchases benefits us! It’s really that simple. If Amazon is your retailer of choice, visit and indicate The XLH Network, Inc. as your charity and you’ll be well on your way to taking advantage of all the great deals that Amazon offers. There’s a reason it’s the world largest marketplace, and now you can shop from the comfort of your own home and help those living with XLH.

IGive offers a similar option. You can choose from over 1700 online stores at the IGive Marketplace and a portion of your purchases will benefit The XLH Network, Inc. All you have to do is set up an account at IGive, select The XLH Network, Inc., as your charity, and you’re shopping, and helping, with one click of the mouse. Go here to set up an IGive Account:

And remember, you don’t have to limit your online shopping to just back to school time. These programs are available throughout the year so keep it in mind for birthdays, Christmas, Father’s Day, Mother’s Day, anniversaries or "just because" days!

Wednesday, July 12, 2017

XLH Day Registration is Open!

XLH Day Registration is open at We think you'll be as excited as we are with everything we've got planned, from panel discussions to interactive discussions, a children's program, and even a picnic dinner at a local state park. You can see the list of speakers and the preliminary agenda here:

Before registering, please read the information about hotel accommodations here  We don't have a grant to cover hotel costs for everyone this year, so the stipends will be granted on the basis of need. We understand the financial burdens of living with a rare disease, and we will do our best to accommodate everyone who could not attend without the financial assistance. For your own planning purposes and for ours, we encourage anyone who does need the help to apply for the stipend as early as possible in the registration period by contacting our Executive Director, Carol LaFleur at

If you know anyone else with an XLHer in the family, please make sure they know about XLH Day. We don't want anyone to miss out on such a great experience!

Tuesday, July 4, 2017

Happy Independence Day!

We're all on vacation, but want to wish everyone in the U.S. a great Independence Day, and to everyone else we wish the best of your July holidays, including but not limited to:

Bastille Day Canada Day
Constitution Day
Day of the Sea
Emancipation Day
Family Day
Freedom Day
Heroes' Day
Liberation Day
National Day
Orangeman's Day
Republic Day
Revolution Day
Somers' Day
St. Peter's and St. Paul's Day
Union Day
United States Friendship Day
Unity Day

Wednesday, June 28, 2017

FDA to consider both pediatric and adult issues

According to a recent Ultragenyx press release, the company has had a meeting with the FDA to discuss the planned submission for approval of KRN23/burosumab, with encouraging results. 

The press release states: "At the meeting, the FDA agreed that the BLA [Biologics License Agreement] can be submitted based on available clinical data and confirmed that both pediatric and adult indications would be included in the review. Based on the agreement, the submission of the burosumab BLA is planned for the second half of 2017."

Of particular importance to the XLH community is the FDA's decision to consider both pediatric and adult indications for the use of KRN23/burosumab, since previously it appeared that the FDA might only consider pediatric use of the new therapy during its review under the Breakthrough Therapy designation. Without FDA approval for adults, insurance companies might only cover the treatment for children, not for adults. Anecdotal evidence suggests that the treatment can be extremely beneficial for adults, not just for children.

The Network is investigating a variety of ways to provide the FDA with information from the patient perspective, particularly with respect to adult issues that need treatment, which have not been addressed as widely in the medical literature as the pediatric issues. We'll let you know  how you can help too as soon as we have more information.

You can read the entire press release here:

Wednesday, June 21, 2017

Weak Bones, Strong Wills!

Our book of the XLH community's experiences with the condition, Weak Bones, Strong Wills, the Stories of XLH has been compiled and edited, and now is going through a final proofreading. We think you'll find the stories inspiring, and you'll recognize many of the experiences from your own life or a family member's life.

We're on schedule to have paper copies available for purchase and autographing during XLH Day, and both digital and paper copies will be available then from online retailers like,, and We'll share the links as soon as they're available.

Meanwhile, you can see a rough mock-up of the cover art (still a work in progress) at our official facebook page,

Thanks to everyone who submitted a story!

Wednesday, June 14, 2017

McGill Video

McGill University held a symposium last year on "Soft Bone and Tooth Diseases -- what can we do about them?"

You can watch the video of the symposium here:

Dr. Frank Rauch reviews the basics of XLH, starting at about 10 minute point. Then, at about 21 minutes, Dr. Marc McKee talks about the mineralization process in teeth and the problems that XLH causes for mineralization.

As an added benefit, if you speak French (or at least learned a bit of it), you can follow along with the French subtitles!

Wednesday, June 7, 2017

XLH Day registration to begin July 9

It's almost time to register for XLH Day, which will be held on October 6-7 at Quinnipiac University's Frank H Netter MD School of Medicine in North Haven, Connecticut. We expect the registration site toopen July 9th and close September 16. Please don't try to register before we announce it's open; early registrations will be deleted during testing.

Meanwhile, we're sharing the graphic for this year's event, which you can see at our official facebook page, Make sure you're following us there, so you get the most recent news and information.

The graphic merges aspects of the XLH disease process with a Connecticut legend. Hidden in plain sight as the trunk of a Charter Oak tree are leg bones with the varus deformity common to many XLHers.

The legend of the Charter Oak started when King Charles II granted the Connecticut Colony its charter in 1662. His successor consolidated the New England colonies, and when the royally appointed Governor came to collect the charter, heated argument ensued, the candles within the room were blown out, and the charter was spirited away. The charter was hidden in Hartford, in a white oak tree henceforth known as the Charter Oak. Today, you can find the symbol of the Charter Oak on the back of the Connecticut state quarter. 

Wednesday, May 31, 2017

Tumor Induced Osteomalacia

Tumor Induced Osteomalacia is an ultrare condition where a tumor excretes excessive amounts of FGF23, which in turn causes phosphate wasting. It's essentially a tumor-caused (instead of genetically caused) version of hypophosphatemia.

For many patients with TIO, removal of the tumor stops the phosphate-wasting. Unfortunately, however, the tumors are difficult to find and may be located in places where surgery cannot completely remove the tumor. In those cases, the patient may need non-surgical treatment to normalize the phosphorus levels.

There's at least one Phase 2 clinical trial under way to see if the new treatment for XLH (KRN23/burosumab) will also treat patients with TIO, and results will likely be available later in 2017. The study is no longer recruiting, but you can read about it here:

A separate, completed study investigated whether an existing treatment, Octeotride, might be used for TIO, but the researchers concluded that it was not effective. You can read about it here:

Wednesday, May 24, 2017

Calcified tissue issues

XLHers frequently experience calcified soft tissue, either in the kidneys (generally believed to be a side-effect of treatment) or in tendons and ligaments (the exact cause of which is unclear at present).

One such condition is OPLL or Ossification of the Posterior Longitudinal Ligament (the ligament that runs down the outside of the spine). These calcifications can occur in a variety of other places too, generally wherever tendons or ligaments attach to the bone. These calcifications are known as entheses and the condition is known as enthesopathy.

A recent journal article discusses whether the current treatment regimen (phosphorus and calcitriol supplements) reduces these calcifications, and unfortunately concluded that it does not. You can read it here:
And there's a related commentary here:

XLHers aren't the only ones who experience calcified tissues. There's a whole medical journal dedicated to them: Calcified Tissue, International (

You might think "calcified tissue" is a micro-specialty, but there's actually a European Calcified Tissue Society, which meets with the International Bone and Mineral Society every year in Europe (, and there's also an Israel Society on Calcified Tissue Research (

Wednesday, May 17, 2017

XLH Day fundraiser

The Network has been hard at work looking for ways to expand XLH Day, educate the community about XLH and introduce new fundraising initiatives that will help expand our services! We are happy to announce that we will be adding a community walk/run to take place at the end of XLH Day weekend.  

We are excited to bring this event to Connecticut, and know it will be a great way to educate about XLH! We hope you will join our efforts and participate, either in person or as a virtual team member from the comfort of your own home. Check it out here:

Wednesday, May 10, 2017

A clinician who goes the extra mile

Too often, XLHers experience less than ideal treatment by clinicians who aren't familiar with XLH. But what about the good ones? We know they're out there, and we're looking to recognize the work of a clinician (doctor or nurse-practitioner) who goes the extra mile for XLH patients. Someone who makes sure to keep up to date on the latest information on XLH, despite its rarity. Someone who demonstrates that the patient is a complicated, real person, not just the embodiment of an electronic file.

Do you know a clinician like that? Someone who treats you (or a family member's or friend's) XLH (or the autosomal versions of hypophosphatemia)? You can nominate him/her for a prize to be announced at XLH Day by answering a few brief questions about the clinician here:
(Note that you'll need to log in to the platform if you have an account already or create a free account. If you're already registered and you've forgotten your password, follow the "forgot password" link to reset it.)

Please note that while we appreciate and respect the clinicians working in research settings, this particular project is intended to recognize someone who doesn't have the advantages of working in a major research institution (so that excludes the doctors at the various clinical trial sites for KRN23/burosumab).

Don't delay! The nominations will close at midnight on June 18.

Friday, May 5, 2017

Additional results from KRN23/burosumab studies

The latest press release from Ultragenyx Pharmaceutical, primarily addressed to investors, includes some new data on the healing of fractures in the adult XLHers in the Phase 3 clinical trial of KRN23/burosumab:

"At study entry, 52% of patients (comprising 48% of patients randomized to burosumab and 56% of patients randomized to placebo) presented with either active fractures (12%) or pseudofractures (47%) or both. At week 24, 37% of active fractures or pseudofractures in patients treated with burosumab were completely healed compared to 10% on placebo. Additionally, at week 24, 3% of existing active fractures or pseudofractures treated with burosumab worsened compared to 11% on placebo." 

It's worth noting that the study, in addition to showing apparent benefits for healing, also documents just how widespread the occurrence of fractures and pseudofractures is within the adult XLH community, with roughly half of the study participants having a fracture or pseudofracture! 

You can read the entire press release here:

Wednesday, May 3, 2017

Collateral Damage

This week, we've got a commentary from the parent of a spontaneous XLHer, who's dealing with chronic pain against the backdrop of negative press about opiates. Here's what the parent had to say:

Did you know that when it comes to pain treatment some professionals do not recognize XLH as a disease that can cause chronic pain? Our family has discovered this first-hand in our XLH treatment journey. A number of well-meaning professionals, friends, and acquaintances have made suggestions for how my XLH child might find some relief (anti-inflammatories, bee-venom studies, Epsom salt baths—we have tried them all). Steroids worked great for a while, but when her kidneys started to shut down, new treatment had to be considered. Unfortunately, only opioids worked well enough for her to work and live with a certain amount of independence and pay for insurance that doesn’t cover any of the costs of this medical problem. The world of opiates, however, has been a tough world to navigate—a world made even tougher by the rarity of XLH.  

Recently, a pharmacist refused to refill an opioid prescription because he didn't “think the level of pain medicines prescribed were necessary.” This prescription was put on hold, not filled, and it could not be transferred to another pharmacy. We have begun to feel like we are collateral damage in our society’s misguided but well-intentioned attempts to fight a war on prescription drug use.

My child is not collateral damage; and no one’s should be. In an attempt to advocate for my daughter and others with severe pain related to XLH, I have researched various foundations dedicated to raising awareness for pain management. I am volunteering with The XLH Network, Inc. to make this problem more well known, and we are hoping to recruit a pain management specialist to the SAB and to create partnerships with other organizations that might benefit members in similar situations. There are no magic solutions to easing my daughter’s pain, but I am dedicated to making sure that those of us in this community who struggle with chronic pain have some pathways to answers.

It has been a long and lonely road so far, so I hope others know that we do not have to travel it alone.

For more information on chronic pain, see the NIH (

For more information on advocacy for patients with chronic pain, see the U.S. Pain Foundation (

Wednesday, April 26, 2017

Ultragenyx Patient Day

The Ultragenyx Patient Day was held this past weekend at the company's Novato location.  Rare disease patients from across the country gathered for a day of networking, family activities and the chance to connect and share with others. Fifty-five XLH families were in attendance and had an opportunity for a meet and greet with board members and our new executive director, Carol LaFleur.

President Bill Coogan reports that the food was plentiful, with Thai, Italian and Mexican food trucks, along with ice cream and gelato trucks and an additional buffet set-up. The featured band, always a last-minute surprise, was Smash Mouth. There were other activities for people of all ages and abilities, with approximately a thousand people in attendance, including patients, family members and employees of Ultragenyx Pharmaceutical and Audentes Therapeutics (gene therapy company). 

On behalf of the XLH community, the Network is grateful to Ultragenyx, Audentes and the people who worked so hard to make Patient Day a memorable experience. 

You can see pictures at our official Facebook page,

Wednesday, April 19, 2017

Use of MRI in monitoring rickets

Back in the 1950s, when it wasn't known that X-rays could be harmful (and the machines emitted much more radiation than they do today), it wasn't unusual for XLHers to have full-body, head-to-toe sets of X-rays done at regular intervals.

Fortunately, today they're done more cautiously, using less radiation, so the benefits generally outweigh the risks. Still, there is some risk from X-ray exposure, which may be of particular concern for children. A recent journal article reminded doctors of this fact. You can read the abstract of "Children, medical radiation and the environment: an important dialogue" from the April 2017 issue of Environmental Research here:

Researchers are looking into the possibility of using Magnetic Resonance Imaging, which do not use radiation, instead of X-rays. Doctors already knew what rickets looked like in an X-ray, but not what it looks like in an MRI.

According to a recent journal article, researchers appear to have figured out a way to identify rickets in an MRI. In an article published in April in Hormone Research in Pediatrics, researchers concluded, "MRI of the knee provides precise rickets patterns that are correlated with ALP, an established biochemical marker of the disease, avoiding X-ray exposure and providing surrogate quantitative markers of disease activity." You can read the abstract here:

Wednesday, April 12, 2017

Getting your medical records

If you're going to see a new doctor, or perhaps you have a child who's transitioning from a pediatric endocrinologist to an adult endocrinologist, then you'll want to have your (or the child's) medical records. Even if you were diligent about getting copies of everything as you went along, chances are it's an inconvenient mess of paperwork. And, if you're like most people, at least a few pages are missing, despite your best intentions.

What if you could get all that information as a single electronic download?

You may be able to in the United States.

There's a federal program called "Blue Button" that has a logo that -- you guessed it -- is a blue button. It signifies that you can download your medical information (not including images like x-rays, unfortunately, and sometimes not including the doctor's notes from an appointment) by clicking on that button.

You may find the button on your health care provider's main website, but if not, you can look it up at If your provider is listed at that site, it will give you a link to instructions for how to download your documents.

In some cases, you will need to create an account with your health care provider if you don't already have one. In some cases, it may take a few days for your new account to be approved, so don't wait until the last minute before you need the records. Sometimes, they send the activation code by snail mail, which can take several days, as opposed to the almost instantaneous responses we've grown used to online.

Once your account is approved, you can log in and then access a variety of types of information, including the medications you're currently taking (or took in the past), your recorded allergies, treatment information (e.g., diagnoses and sometimes summaries of the visit) and lab test results. The downloads can then be printed, saved to a flash drive or forwarded to your health care provider electronically.

There's even a blue button for Medicare patients, which you can access here:

Wednesday, April 5, 2017

Disability resources

The severity of symptoms experienced by XLHers varies greatly from patient to patient. Some are active into their old age, but others have mobility challenges beginning generally somewhere between early- and mid-adulthood.

Depending on the person's choice of career, those challenges can affect the ability to work. For those XLHers, it may be worth consulting an attorney who has experience with representing patients before the Social Security Administration (in the U.S., or the relevant governmental entity elsewhere). You're not likely to find one who has ever heard of XLH, but look for someone who has experience with presenting fairly complicated medical cases, possibly including other rare diseases.

If you prefer to get an overview of the process before you consult an attorney, there's a good book on the subject, written by lawyers but intended for a non-lawyer audience. It's available for purchase, but you might be able to find it in your library (or ask for it through their inter-library loans):

Alternatively, the Social Security website has a LOT of information, much of it intended to be used and understood by non-lawyers. The main page for disability benefits is here:

There's also a comprehensive set of Frequently Asked Questions and answers:

The Social Security Administration also has a resource called the Blue Book, which lists conditions it may consider in determining disability, and which can be found at their website The explanation is, in essence, that if an applicant has one of these conditions and isn't working, then it's pretty much assumed that the person is disabled.

XLH isn't one of the specific conditions that leads to a semi-automatic finding of disability, but that just means that the applicant needs to provide more proof of disability. Here's how they explain it:
[T]he presence of an impairment that meets the criteria in the Listing of Impairments (or that is of equal severity) is usually sufficient to establish that an individual who is not working is disabled. However, the absence of a listing-level impairment does not mean the individual is not disabled. Rather, it merely requires the adjudicator to move on to the next step of the process and apply other rules in order to resolve the issue of disability.
The Blue Book is broken into sections based on biological systems, like endocrine and bones. Since XLH can affect the whole body, it may be difficult to pinpoint symptoms to a specific section of the Blue Book. For instance, there's a mention of parathyroid abnormalities (in the endocrine section of the Blue Book), but it doesn't list anything about low phosphorus, just osteoporosis, cataracts, kidney problems and excitable nerves.

A lot of XLH issues fall under the musculoskeletal section, but there's no specific mention of osteomalacia (the adult version of rickets):

There's also a section on "congenital disorders that affect multiple body systems," which would seem to apply to XLH, but it's not mentioned by name there.

NOTE: This posting is not intended as legal advice. You should consult with a qualified legal professional in your jurisdiction if you have questions about filing for disability.

Wednesday, March 29, 2017

Survey on Rare Disease Support Needs

Researchers at Oregon State University, in association with the National Organization for Rare Disorders (NORD) are undertaking the first large-scale study about the information and psychosocial support needs of people living with rare disorders.

Obviously, the more responses they can get, the better the resulting data will be, and the more they can learn from it. If you'd like to participate, you can take a 40-minute online survey here:

If you're interested, do it now. The survey will be closing soon (possibly as early as Saturday, April 1). 

Note that to be eligible for the study (and focus group), you must be 18 or older, able to communicate in English and have a rare disease or disorder (not just be  the parent of someone with a rare disorder). XLH (and the related autosomal hypophosphatemias and TIO) qualify as rare disorders, since it's estimated that around 15,000 people in the United States have XLH (and the other conditions are even more rare). 

And for XLHers in the UK, Spain, Italy, France, Netherlands, Germany, Denmark or Norway ONLY:
The James Lind Alliance is looking for help in identifying identify unanswered questions about XLH and two other rare disorders in adults. To share your thoughts:

The XLH Network, Inc. does not endorse or critique specific research projects, and does not counsel individual patients either for or against participation in any specific research. Prospective volunteers should always carefully review the informed consent documentation, and discuss the pros and cons of their participation with trusted advisers.

Wednesday, March 22, 2017

Things to do in Connecticut

XLH Day will be held on the Columbus Day weekend, a wonderful time of year to experience what Connecticut has to offer. To help you with your planning, we've asked Board Member Joyce Inman to share her experiences as someone who has traveled frequently to Yale from out of state. We'll have some more suggestions later on for outside the New Haven metropolitan area, but for now, here's what Joyce had to say:

Our family has been traveling to Connecticut to see our daughter’s XLH specialist for eight years. Our daughter was lucky enough to participate in one of the clinical trials for KRN23, and this meant even more travel to New Haven. One of the things we tried to figure out early on this process was how we could make the most of our visits and accomplish some nonmedical outings.

Following are a few of my and my daughter's favorites. Some of our suggestions take only a few minutes (a walk for ice cream) and others can take up your afternoon. Most of them do involve walking, but my daughter found most of our side trips enjoyable (and so did I). Enjoy, and let us know if you find other exciting places to visit in Connecticut.

Are you looking for a yummy bite to eat and a new book? We find ourselves in Atticus on most of our trips to make sure we have a good read for the trip home.

We promise this may be the best ice cream in the New England area. It is worth standing in line for, and you may want to try the grilled cheese sandwich (the only food they sell) as well.

Learning a bit more about the 300-year history of Yale University is fun for the whole family.

We are a southern family, so we are partial to beaches. New England beaches have an entirely different feel to them, and it is worth the ten-minute drive to neighboring West Haven to walk the shoreline with your family.

IT™ Adventure Ropes Course located in Jordan’s Furniture (
We lucked upon this one Saturday afternoon when we were looking for an indoor activity. Your family will love this indoor ropes course that includes a water and light show!

Yale University Art Gallery ( ) Before going, be sure to check the hours (closed on Mondays) and also whether there's a special exhibit for a limited time.