Thursday, April 28, 2016

The stories of XLH

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

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

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

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

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

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

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

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

Tuesday, April 26, 2016

Texas XLH Day: keynote & shirts

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

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

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

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

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

Wednesday, April 20, 2016

Major new initiative

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

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

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

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

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

Wednesday, April 13, 2016

XLH around the world: the United Kingdom

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

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

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

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

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

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

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

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

Thursday, April 7, 2016

ENDO Society conference highlights

Thousands of health care professionals with a particular interest in endocrinology (the hormone system) converged on Boston this past weekend to teach and learn and the annual conference of the Endocrine Society. Three members of the XLH Network's board were there: President Bill Coogan, Treasurer Geoff Edelson and Social Media Coordinator Gin Jones.

There was far too much going on, even in our little corner of the event, to share everything, but here are a few of the highlights:

The conference is global in nature, with attendees from all over the world. We were honored to meet with visitors from Brazil, Denmark, Austria, Germany, Argentina, Romania and Japan! We're adding doctors from several of those countries to our database of clinicians with XLH experience.  

We networked with two other patient support groups, the Osteogenesis Imperfecta Foundation ( and Soft Bones: The Hypophosphatasia Foundation ( with respect to the challenges we all share with respect to patient advocacy.

As always, our goal was to educate clinicians about XLH and the Network. We were particularly struck by the number of doctors who would tell us, "Oh, we don't need your information. We only treat adults." Then the two of us who are adults with XLH would jump up and down, shouting "No! XLH: it's not just for kids!" (We didn't really shout, but we were emphatic.) We still have a lot of work to do to bust the myth that XLH is only a pediatric disorder.

And finally, SAB member Thomas Carpenter, M.D., did a presentation on data from the KRN23 trials, which our president Bill Coogan attended. Bill reports that the presentation was well attended and well received.

Tuesday, April 5, 2016

Molars, bicuspids and canines, oh my

A while back, we asked for your teeth. No, not the ones still in your jaw, but the ones that came out for one reason or another.

We got quite a few, but now we need more!

SAB member, Carolyn Macica, PhD., and her study team have processed the teeth that were sent to her before by generous XLHers. They've already made some interesting findings about the mineral content in XLH teeth, which may be useful for understanding the mineral content of XLH bones.

Now she's looking to expand on those initial studies and would be grateful for any additional teeth that could be sent her way. They can be baby teeth if you have a child with XLH, or adult teeth if you're having them removed for some reason.

The address to mail them is:
Dr. Carolyn M. Macica
Frank H. Netter School of Medicine
Quinnipiac University
275 Mount Carmel Avenue, NH-MED 311H
Hamden CT 06518