Wednesday, June 29, 2016

Writing prompts for the stories of XLH

Sometimes, when writers get writers' block, they turn to "prompts" to get them started. Usually, once they start writing, they can keep going, and it's just getting over that initial hump that's difficult.

Maybe you're experiencing the same thing. You want to write about your experience with XLH for our book, Weak Bones, Strong Wills, but you can't decide which story or don't know where to start. 

No problem. We've got a few prompts for you. If you're stuck, pick one of them and just write whatever comes to mind. You can always go back and edit it. You might even find that you'll drift off into a totally different topic, and that's good too. 

This isn't remotely a comprehensive list of topics, but perhaps one of them will inspire you:
  • What's your earliest memory of treatment? (E.g., Gin remembers, at just-under-three-years-old, getting a shot and learning that it didn't hurt as much if she didn't watch the needle go in.)
  • What's your earliest memory of being different and  how did you cope with it?
  • Is there a doctor, nurse or other medical professional (or perhaps a teacher or friend?) who made a difference in your life, beyond the treatment itself?
  • What would you most like to be different about your life if you could have fixed only one physical thing about yourself (e.g., to be taller or stronger, or to have more energy, better hearing, or fewer dental abscesses), and how would that have changed your life? Would you have answered this question differently at different stages of your life?
  • What was it like the day you met someone else with XLH for the first time (particularly for spontaneous cases who don't have family members with XLH)?
  • Have you accomplished something that people find surprising because of your diagnosis, and how do you deal with their surprise?
  • What's it like to be in a clinical trial as either an adult or a child, and if you've been in them at both age, how were the two experiences the same/different?
  • If you have an older/younger family member with XLH, what have you learned from him/her?
  • How do you explain your condition to other people, and how do they react?
Now, get writing. We're anxious to hear your story! The deadline is October 1, 2016, and the details (submission guidelines) are here:

Wednesday, June 22, 2016

A Texas playlist

We've got some musical inspiration for you, while you're thinking about coming to XLH Day in Texas. (And if you've already registered for the event, don't wait until we send out confirmations between July 12 and 17 to make your hotel reservations. Make them now, and if necessary, you can cancel them without penalty up until shortly before the event.)

To get the playlist started, Board Member Kathy Buchanan suggests "Deep in the Heart of Texas," which was the inspiration for our graphic (so you can sing along, changing the words to "Deep in the BONES of Texas"). Here's the Texas Chamber of Commerce's version:

Board Member Joyce Inman consulted with her entire family, and they had a tie vote for Willie Nelson's "Beautiful Texas" and "Texas in My Soul." You can hear them both on Youtube: and

Gin Jones heard about this new release from fellow Board Member Chris Younger, which seems appropriate for those who are driving long distances to XLH Day (and we know several people are driving more than ten hours!):  Yarn's "Long Way to Texas"

We have a bunch of other suggestions, but unfortunately there aren't official (posted by the copyright owner) Youtube links for any of them, but we're sure you can find them wherever music is available.

Past President Becky Mock suggests Stevie Ray Vaughan's "Riviera Paradise Live from Austin, Texas."

Board Member Chris Younger is himself a musician, so he has several suggestions: Stevie Ray Vaughan's "Texas Flood," Ellen Jewel's "Back to Dallas,"  ZZ Top's "LaGrange," and Miranda Lambert's "Texas Pride." 

Board Member Gin Jones recommends Lyle Lovett's "You're Not From Texas (But Texas Wants You Anyway)."

Board Member Rachael Jones (no relation to Gin!) found one perfectly on point for us: "Houston (Means I'm One Day Closer to You)" by the Gatlin Brothers.

We're looking forward to seeing y'all in August! Make sure to register now, if you haven't already:

Wednesday, June 15, 2016

PHEX mutations database

As we're gearing up  to launch our natural history study platform in conjunction with the National Organization for Rare Disorders (NORD), which you can read about here (, we're thinking about the various pieces of information that it might be useful to collect.

One of those pieces of information is the exact mutation that caused a patient's phosphate wasting. To date, no one has been able to say for sure whether there is any correlation between the specific mutation and the nature/severity of a patient's symptoms. That's certainly something that both patients and clinicians would love to know for sure, though.

Not everyone gets genetic testing, since it can be expensive and not always covered by insurance, but did you know that there's a database of these mutations?

There's a site, maintained by Yves Sabbagh, PhD, that collects these mutations. He explains, "The PHEXdb is a database that collects and makes available all the known mutations that have been identified in the PHEX gene which is associated with the rare disease X-linked hyphosphatemia, the most common form of
inherited/genetic rickets. PHEXdb provides a search engine to query for a
specific mutation and also provides a submission form for people who
would like to submit mutations to the database."

If you know your (or your child's) mutation, and it's not in the database, he'd love to hear from you, and you'd be added to the body of data about XLH. You can submit your mutation here:

Wednesday, June 8, 2016

Texas XLH Day registration is open

Registration is now open for XLH Day in Houston, Texas!

For more information and to register, go to

Wednesday, June 1, 2016

Deep in the BONES of Texas!

It's just over two months to XLH Day (August 13, Houston, Texas) -- have you made your transportation plans yet?

As always, we've got a great keynote speaker -- this year, it's Mary Ruppe, M.D. -- who's putting together a great collection of medical care providers with experience treating XLH patients. There will also be representatives from Ultragenyx Pharmaceutical, and fun, educational activities for children of all ages.

This year's venue will be the the Shriners' Hospitals for Children in Houston. As in previous years, we've made arrangements for special pricing at hotels convenient to the venue for the night before and the night after the event.

Also as we've been able to do for the last two events, we'll be offering reimbursement for one night's hotel stay per family for the first thirty people to register. To be eligible, you'll need to have an active account at discussion platform, so if you haven't joined yet, you can do it now for free at so you'll be ready when registration opens (not yet!).

But that's not all! We're offering some extras this year. For starters, we'll have t-shirts with a design specifically for this year's event. You can see it at our official facebook page: (And thanks to Marah for providing the initial inspiration for the design!)

In addition to the usual informal meet-and-greet on Friday evening,  we're adding another informal gathering on Saturday evening for anyone who wants to stick around for a bit longer before saying goodbye to new friends.

Also new this year: we expect that (almost) the entire board of directors will be in attendance, so you can meet us, ask us questions and let us know how we've helped you and how we can do more for you and your family.

We expect to have registration open on or about June 8th (don't try to register yet, or your information will be lost!). Keep an eye here or at the discussion platform or the official facebook page for updates.