Wednesday, April 29, 2015

Thinking out loud

Today's post is by Gin Jones, wearing her "member at large" hat, and not on behalf of the entire Board. I'm just sharing some thoughts that keep me awake in the middle of the night. I don't have any answers, but all discovery starts with questions.

There's so much about XLH that isn't known, so many questions to ask researchers to look into. Some of that work has begun, like the Gait, Mobility and Range of Motion Study by our Scientific Advisory Board Chair, Carolyn M. Macica PhD, and her student at Quinnipiac University's Frank H. Netter M.D. School of Medicine, Eva Amenta, who's examining bone mineral composition and tooth structure in XLH patients as a biological surrogate for bone mineral.

What else would I like to see investigated? So many things! To keep the list manageable, I'll start with three topics across a range of symptoms.

First there's hearing loss and tinnitus (ringing in the ears). There's been some speculation that since hearing is a function of small bones in the ear, and our bones are affected in a variety of ways, perhaps we're at risk of hearing loss. Is there a higher incidence of hearing loss and tinnitus among XLH patients, and if so, what's the underlying cause and what can be done to minimize the risk?

What about our diets? We know that our bone problems are not caused by a nutritional insufficiency, like the rickets caused by lack of vitamin D intake. But are there foods that could help (or hurt) our limited ability to mineralize our bones? What about interactions between certain foods and the phosphorus and calcitriol we take?

And finally, I'd love to see more crossing of lines between different conditions. I recently ran across an article on achondroplasia (a form of dwarfism in which the cartilage during early development isn't properly converted to bone, especially in the arms and legs, with resulting short stature), which has a different biochemical cause, but some of the same bone-related symptoms as XLH. Apparently spinal stenosis is common, even in children with achondroplasia, and, as in XLH patients (where the stenosis is frequently seen in adulthood), no one knows exactly why the stenosis occurs. Perhaps researchers could compare notes on the two conditions and get to a better understanding of the biochemical processes involved in bone formation and the calcification of cartilage.

That's enough to think about for one day. If you've got questions you'd like to see researchers answer, please share them with me: GinJones at  I could use some new material to gnaw on during my sleepless nights.

Wednesday, April 22, 2015

Notes from a guinea pig

Ever wonder what it's like to be a guinea pig? A few XLHers had the chance to find out a few weeks ago, when I volunteered for the Gait, Mobility and Range of Motion study led by SAB chair, Carolyn M. Macica, PhD at Quinnipiac University's Frank H. Netter MD School of Medicine.

The results of the study won't be available for a while, since the researchers need to crunch all the data and study the information. But the results should offer some basic information for understanding adult issues related to XLH and the various services (physical therapy or occupational therapy) that might be of use for professionals who can help improve our quality of life.

As described in the call for volunteers, the study had five pieces: diagnostic imaging, biomechanical data, a physical therapy work-up and an occupational therapy work-up. There were four volunteers the day I went, and we all agreed that the diagnostic imaging (x-rays, in particular) was the most challenging for us. X-ray beds are NOT designed to lie on for more than a couple minutes, and we were getting full-body x-rays, not just one or two quick images. All of us also agreed that it was worth the discomfort to make this information available to scientists who were genuinely interested in our issues.

The biomechanical lab was the most interesting, simply because it was something I'd never experienced before. It was similar to what is done to create video game characters, where an actor has sensors attached to his joints, and then he goes through a range of motions while cameras pick up the movement of those sensors. The computer can then create a figure on the screen, using the data from the sensors. They did essentially the same thing with the XLH adults in the place of the actors. Sensors were attached to our wrists, elbows, shoulders, spine, hips, knees and feet. Then we went through a series of normal, everyday movements (walking, standing after sitting, moving the knee, moving hands, etc.) while they were recorded.

We also spent an hour each with a social worker, answering questions about our experiences with XLH and how the condition affected us emotionally. And finally, there was a session with an occupational therapist, which involves more than just job-related issues, but also hobbies and basic things like being able to get dressed and take care of daily hygiene. I found it interesting that there's a trend toward asking the patients what WE care about getting done, instead of assuming that everyone wants the same help. For example, one person might care a lot about keeping her house clean (not me!) while another may not care if she can sweep and mop, as long as she can pursue a hobby she's passionate about, so the focus would be on what assistance might enable the pursuit of that hobby, rather than the assistance that would help with sweeping and mopping.

All in all, it was a fascinating experience, and so heartwarming. Patients with a rare condition can get a little cynical after dealing with doctors who, not entirely surprisingly, have never heard of XLH, don't quite know what to do with us and are too busy to really find out. The scientists we worked with -- and I heard this from the other volunteers too, so it wasn't just my impression -- were obviously interested in what we had to say, very grateful for our willingness to share our experiences and our physical data with them despite the discomfort it caused us, and incredibly understanding about our physical (and emotional) limits when we were simply unable to do some portion of the study.

The data-collection part of this study is over, but I encourage everyone to watch for future studies and consider participating in one. It's important work, and it can help the participants too, giving some relief, at least briefly, from the feeling that we're helpless in dealing with this disease.

Alternatively, if you haven't done it already, the Burden of Illness study sponsored by Ultragenyx Pharmaceutical, and which doesn't require you to do anything more than sit at your computer and answer a bunch of questions (in English or French), is still collecting data. You can find it here:

Wednesday, April 15, 2015

Describing pain

Today's guest post is by Network member, Andrew Shortall. He was diagnosed with XLH at age two, and has become a self-taught chef, wine business person and a writer, with aspirations to become a novelist. 

“Can you describe the pain for me?”

This is a familiar, and often frustrating question for both patients and doctors. Especially for many XLH sufferers who invariably deal with chronic pain during their lives. How do you describe something to a medical professional that simply defies explanation? And how does a doctor interpret the varied phrases and descriptions provided by the patient?

I’ve read stories of patients becoming upset by the inability to accurately give details to their doctor. The doctor’s understandable frustration never helps, either. Nobody is at fault, of course. Pain is different for everyone. My daily pain varies in location, intensity and type. And my mother describes her XLH-related pains differently.

For example, I have osteoarthritic pain in my hips. Because the joint can stick and click sometimes, that can be very painful. But, what kind of pain? I’d say a burning ache that builds to a sudden stabbing crescendo, followed by blissful relief once the joint clicks and frees itself. As for my back pain, that’s different again. At rest, I have a mild to dull ache in the lumbar muscles. If I’m working in the kitchen, it builds in intensity and spreads across my mid back and then becomes pinching with every movement. And at that point, I know to sit down and rest if possible.

I’d almost liken the effort of describing pain to a beloved pet dog trying to tell us they’re not well. We know the signs, such as a limp when the dog is walking, or raising a paw to have it checked, or even not eating. But how do they explain it?

I think both patients and doctors need to find common ground. And one brilliant article I read recently by Christine Miserandino describes “spoon theory.” It is something a lupus sufferer created to describe her condition to friends and family. Spoons represent her energy on a given day, and every task takes one spoon away. By having common terminology, we can make it easier for all. After all, understanding our bodies and pains more won’t hurt, will it?

Wednesday, April 8, 2015

Livestreaming from XLH Day!

If you've been disappointed about not being able to go to XLH Day this year, we've got some news that might cheer you up a little. It's not the same as being there, since we can't bring your fellow XLHers into your home for socializing, but we can bring the educational lectures to your computer.

We'll be livestreaming from West Coast XLH Day on Friday, April 10th, starting around 9 a.m. (that's California time, which, if I did the math correctly, would be noon Eastern time in the US and 5 p.m. in the UK). You can see the program of who will be talking and when they'll be talking at Just click on the button that says "program" and it will take you to a link to the program.

The livestreaming link will also be available by way of a button at The button is there now, but goes to a blank page at the moment. It will have a link and any necessary instructions by Friday morning.

Eventually, the video will be edited and uploaded for watching at your convenience, but for now, we hope some of you will be able to join us virtually on Friday! Then you can stop by our Facebook page ( or the listserv if you want to discuss the experience. 

Wednesday, April 1, 2015

Meet Director Gin Jones

1. How did you get involved with the XLH Network, and then how did  you become a member of the Board of Directors?
I was completely ignorant of the adult issues encountered by XLHers (and even that what I was originally diagnosed with -- vitamin D resistant rickets -- was a misnomer and the condition was now called XLH) until about a dozen years ago, when I experienced significant problems related to calcifications in my spine and ligaments and found the Network. I'd never known another person with XLH before joining the listserv. I was amazed to find that some of the things I experienced and thought were unique to me (like my feet forgetting how to walk after I've sitting for more than a few minutes) were common among XLHers. I became active on the listserv as the subscription manager and as someone who always has an opinion. Serving on the board as a director was a natural extension of that involvement.

2. What's your "superpower" -- the special skill, knowledge or experience that you bring to the board?
Others have been shy about claiming a superpower, but not me. I know I can do things with words. Of particular value in my role as social media coordinator, I can explain complex things (like medical issues) in simple terms that anyone can understand. It was a necessary skill for the practice of law, and now I'm applying it in a slightly different context.

3. What XLH project are  you working on now that you're particularly enthusiastic about?
I'm cautiously optimistic that current research will lead to what amounts to a cure for XLH within my lifetime. It's a little hard to imagine, but it's likely that children born in ten years, possibly sooner, will have a treatment available to them as soon as they're diagnosed, which ought to mean that they will grow to their full physical potential, with none of the short stature, soft bones or chornic pain that previous generations experienced. Anticipating that future, I'm starting a multi-year project to collect the stories of those of us who weren't so lucky. I will be thrilled when no one has first-hand experience of untreated XLH, but in the meantime, we need to document just what this condition does to those who do not get proper treatment, before this history is lost.