Help ensure access to life-saving treatment!

The regulating authority in England is set to decide, incorrectly we believe, that even though burosumab is safe and effective, it will not be made available to patients in the UK for financial reasons. There is a short window of opportunity (just until July 6) for patients' voices to be heard (from anywhere in the world, but especially from the UK), so speak up now! And share this post and ask your friends in the XLH community to act too!

To comment, you must register at NICE using this link.

The evaluation committee is interested in receiving comments on the following:

• How do symptoms (both physical and psychological) and treatments (including any surgery) you or your child experienced in childhood affect you or your child in adult life? 
• For children on standard treatment (phosphate and calcitriol), what are the side effects of taking current treatment (phosphate, calcitriol)? How is that a burden for the child and your family?
• If you have a child who is 1-12 years old and on burosumab, please explain how this treatment is currently helping in the short-term and how you expect that it will help in the long-term.
• If you have a child who is 13-17 years old and on burosumab, please explain how this treatment is currently helping in the short-term and how you expect that it will help in the long-term.

We believe in the power of our combined voices, and there is a reason NICE provides a window for discussion. It is imperative that we stand up for children and families in the UK and that we do so now. Please join us.

Finally, if you have any questions, feel free to email: oliver.gardiner@xlhnetwork.org

#PowerInNumbers #XLHStrong #SetTheRecordStraight

#ShowYourRare

Today is #RareDiseaseDay to raise awareness of rare disease.

In state and national capitols all around the world, rare disease advocates are making an impact and putting a face to rare disease. In Washington, DC, there's a whole week of activities, as you can see from a recap of a previous year's events here : https://youtu.be/FVcWGzY7pm8

You too can #showyourrare online or wherever you live.

Please consider a Rare Disease Day gift to the Network and help us work toward a potentially life-changing 2018 for our entire XLH community. You can donate here: https://xlhnetwork.networkforgood.com/projects/45764-rare-disease-day-champions

Save the date: XLH Day 2018!

This year's XLH Day on Columbus Day weekend (October 5-7) in the Baltimore/Washington, DC area is going to be bigger and better than ever!

We're adding a one-day pre-event called "Symposium on Hypophosphatemia: past, present and future," which will focus on the experiences and challenges for adults living with XLH and related hypophosphatemias, including the autosomal versions and Tumor Induced Osteomalacia. It's an opportunity to discuss these issues in a structured environment, with representatives of the medical community and the U.S. Food & Drug Administration in the audience. The event will be videotaped and transcribed for sharing with the FDA and the medical community (including your clinicians!).

To read more about events like this (which in government-speak are called externally-led Patient Focused Drug Development meetings, or PFDDs), check out this site (and don't be intimidated by all the jargon): https://www.fda.gov/ForIndustry/UserFees/PrescriptionDrugUserFee/ucm453856.htm

We'll have lots more information for you over the coming months, but for now, we're hoping you'll put the dates on your calendar and start making plans to attend. It's going to be fabulous, and we want you to be part of it.

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.

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: https://www.facebook.com/xlhnetwork/

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:
https://www.surveymonkey.com/r/VVM7ZXF

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.

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 ExecutiveDirector@XLHNetwork.org  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.

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: http://www.tedmed.com/talks/show?id=619693

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

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: 
http://ir.ultragenyx.com/releasedetail.cfm?ReleaseID=1031181

What you can do

It's easy to fall into hopelessness and the feeling that there's nothing you can do to improve either your own XLH experience or anyone else's.

That's not true, though. There are several things you can do right now:

1. Keep yourself informed about the latest on XLH research and treatment options by joining, visiting and participating in our forum: XLHForum@xlhnetwork.org Don't just lurk. Say something, share an experience, ask a question, answer someone else's question!

2. Participate in the various research opportunities that are pending:
A. Survey on hip/knee replacement: http://quinnipiacmed.az1.qualtrics.com/jfe/form/SV_6n9bQ8DOWPiITvT
B. Survey sponsored by NORD and Oregon State University on the informational and psychosocial support needs of people living with rare disorders: http://oregonstate.qualtrics.com/jfe/form/SV_7VEgG8kwTizenAN

3. Participate in information-gathering interviews, like the one sponsored by Ultragenyx Pharmaceutical on pediatric issues (or future interviews that will undoubtedly include older age groups). For more information, contact Holly.Spencer at AdelphiValues.com

4. Educate yourself on important health issues. Global Genes is offering a webinar on February 1 about navigating the health insurance system. You can register here: https://globalgenes.org/rare-webinar-healthinsurnace101/?utm_source=Global+Genes+Master&utm_campaign=4abc3fc8b0-November_Webinar10_28_2016&utm_medium=email&utm_term=0_88feb79218-4abc3fc8b0-166285561

5. Plan to attend events where other XLH patients gather to share their experiences, like XLH Day to be held in Connecticut on October 6-7 (Columbus Day weekend). Volunteering at XLH Day would be a great way to help yourself and others too!

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: http://vps.xlhnetwork.org/~xlhforum/forum/index.php?topic=226.0 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.

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: http://vps.xlhnetwork.org/~xlhforum/forum/index.php?topic=226.0 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.

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: https://globalgenes.org/2016livestream/ 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: https://globalgenes.org/pastsummits/

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.

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.

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: http://vps.xlhnetwork.org/~xlhforum/forum/index.php?topic=226.msg355#msg355 (Note that you must have an active account at our discussion platform to access this information. You can register here: forum.xlhnetwork.org)

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.