Wednesday, December 28, 2016

Looking forward to the next twenty years

Message from the Network's President, Bill Coogan:

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

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

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

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

Please help us to help you. Donate now:

Thank you.

Tuesday, December 20, 2016

Warm winter wishes

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

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

Wednesday, December 14, 2016

Milestones on the way to our twentieth anniversary

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

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

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

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

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

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

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

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

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

Wednesday, December 7, 2016

What's your story?

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

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

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

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

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

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

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

Thursday, December 1, 2016

Thank you

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

If you have yet to make an end-of-year gift, we hope you will consider making a donation to the Network so that we can achieve all of our plans and goals in the upcoming years.

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

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