Wednesday, May 25, 2016

Ultragenyx Patient Day 2016

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

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

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

Pictures are over at the official facebook page:

Wednesday, May 18, 2016

Don't let the stories be lost!

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

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

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

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

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

Friday, May 13, 2016

Infant KRN23 clinical trials

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

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

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

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

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

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

Thursday, May 12, 2016

On participation in clinical trials

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

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

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

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

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

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

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

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

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

Tuesday, May 10, 2016

XLH around the world: more from the UK

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

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

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

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

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

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

Thursday, May 5, 2016

Social media and clinical research

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

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

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

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

Tuesday, May 3, 2016

XLH around the world: Paris

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

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

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

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

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