Wednesday, July 30, 2014

Meet Director Joyce Inman

How did you get involved with the XLH Network, and then how did you become a member of the Board of Directors?

My daughter was diagnosed with a spontaneous case of XLH when she was two years old.  My research led to the Network, and I was overwhelmed with how meaningful it was to talk with other families dealing with this disease.  I felt  alone, and I had a lot of questions.  In addition, I live in a state that only has two pediatric endocrinologists, and they are affiliated with the medical school that is two hours from our home.  I needed help figuring out how to get my daughter effective treatment, and my correspondence with both board members and listserv members assisted me in doing that.  One of my favorite memories involves a member in Canada who emailed me after I posted a question about my daughter's abscesses.  We began sending each other pictures of our children with their smiles that included very few teeth.  Her son had never seen someone else with XLH and neither had my daughter.  Even at a young age, I think they felt better knowing that they were not by themselves on this journey. 

I joined the board after having only been affiliated with the Network for about a year.  I wanted to try and help others who found themselves in the same situation.

What's your "super power" -- the special skill, knowledge or experience that you bring to the board?

I do not think that I have any super powers, and I am so busy at this stage in life that there are a number of super powers I wish I had!  I am an assistant professor of English and a university administrator, and my job requires that I work with all types of students, colleagues, and community members.  I find that this allows one to be a good listener and diplomat.  I would say that these are skills that are especially helpful when working with an organization such as ours.  In addition, I am an educator.  I now see my own life's mission as educating others about XLH—my teaching is not just about writing anymore.

What XLH project are you working on now that you're particularly enthusiastic about?

I think our new communications efforts are something about which we need to be especially proud.  We are doing so many things behind the scenes—attending important medical conferences, consulting with pharma companies and medical professionals, creating new materials for patients—and I am excited to see that we now have a venue for publicizing this work to our members!

Wednesday, July 23, 2014

The maturity of XLH patients

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. You may remember him from a few months ago, when he shared his experience with some confusion over whether a symptom was XLH-related or not.

"Andrew, you’re so serious."

I've heard that phrase most of my life, from many different people. They seem to think I never have any fun, but I've had plenty of fun throughout my 38 years on this planet, and some amazing experiences. I've driven a single-seat race car on a race track, I've stood next to a Formula 1 race car as they fired up the massive V10 engine, and I've had a flying lesson in a helicopter.

And yet, I’m labeled a "serious" man.

I've come to realize that being serious is actually a different label for maturity. Growing up with XLH has left me with this perceived maturity. And I think this is something that is quite common with anyone diagnosed with a chronic medical condition, who has to go through life dealing with all the issues it throws at you. A child with a chronic illness really does have to grow up quickly. In my case, I underwent multiple surgeries, spent weeks at a time in hospitals and visited my endocrinologist as often as twelve times a year.

This level of maturity, at least in me, has had a knock-on effect on how I deal with the various traumas life sends my way, too. I've lost friends and family to illnesses, I've been hired and fired from jobs, I've dealt with the end of a relationship, and most recently, I've watched my much loved doggie pal’s health deteriorate until she finally passed on.

To look at me, you might think that I was uncaring about all these things. Nothing could be further from the truth. At funerals, I’m deeply cut up inside. When my dog passed, I cried in private. When my now ex-girlfriend ended our relationship, I bounced between feelings of anger, hurt and sadness for a while. But eventually my "maturity" kicked into high gear. My coping mechanism asserted itself, just as it always had during every physical trauma I've been through.

People have asked me how I manage to cope so well, and wonder why I’m not more visibly upset when something bad happens. I think my XLH has conditioned me to be this way. It really is no bad thing, because when someone I care about suffers a trauma, I can be the rock they need to lean on. As someone who has been leaning on other people his whole life, it's really nice to be able to return the favour!

Wednesday, July 16, 2014

Mid-year report

The first half of 2014 has kept Board members hopping. Our president, Becky Mock, has been traveling far (Chicago for the ICE/Endo conference in June), and near (her home state of North Carolina for ISPE-CaSA in April), and assorted places in between (mostly the D.C. area for Rare Disease Day in February and the World Orphan Drug Congress event in late April). She's spreading the word about XLH to medical practitioners, while also learning from other patient support groups for rare diseases.

The treasurer, Geoff Edelson, has been reviewing our expenses and writing checks. All of the travel doesn't come cheap, even though we do our best to get grants and scholarships or cut deals to reduce the costs, to stay within our tiny budget. He works hard to keep us on track.

Our vice-president, Bill Coogan, has been researching business/financial issues for us and lending a helping hand on assorted committees. He and Kathy Buchanan were instrumental in getting our somewhat dated By-Laws reviewed by a lawyer with special expertise in non-profit organizations, and then using the recommendations to make some much-needed changes. It's not exactly exciting stuff, unless you're a lawyer (and even then, I can attest, it's not that exciting), but it's got to be done, and it takes time, energy and money.

Joyce Inman is our faithful secretary, transcribing the meeting minutes and helping to establish policies and procedures for our growing organization. She's also been active on our fundraising committee (more information on that in the coming months), and you may recall that she's written an essay for this blog. (She also found time to answer the standard interview questions, which you'll be able to read in a couple weeks, to get a better idea of how amazing it is that she finds the time to volunteer on top of all her other commitments.)

Chris Younger and Oliver Gardiner are the Board members with the most advanced tech skills, so while they've been busy on the Network's behalf, a lot of it is invisible. They, along with our webmaster Jim Walker, make sure that the website is there when you tell your doctor about the medical citations listed there, and your doctor goes to look them up. Chris also makes sure that the new clinical trials and studies get listed at the website, and helps the Communications Committee to prioritize the million and one things we need to consider. Oliver's working on a Secret Project, which I'm really excited about, but we're not ready to unveil it quite yet, because we want it to be just right first. Trust me, though: it's going to be great, and it's required a lot of thought and skill on Oliver's part.

Oh, yeah, and then there's me, your Social Media Coordinator for the Board, Gin Jones. I've been busy writing blog and facebook posts to keep you updated, editing posts submitted by members about their experiences with XLH, and searching the internet for the latest news of interest to XLHers.

I'm going to save the Scientific Advisory Board's review for another post, or this will be too long. (But I have to mention the Growing Up With XLH video, which you can view here, courtesy of SAB chair Carolyn Macica, PhD., Quinnipiac University, and SAB member Thomas Carpenter, MD.)

The second half of 2014 looks to be just as busy. The Board is having a retreat to do some much-needed Strategic Planning in a few weeks (watch Facebook for pictures of our haggard selves as we work ourselves to the bone, and make sure to like our page so you'll keep getting our posts in  your timeline), and then there's the American Society for Bone Mineral Research (ASBMR) conference in September, the unveiling of Oliver's Secret Project, and possibly some other projects coming to fruition. We'll also be keeping an eye and ear out for the results of Ultragenyx's Burden of Illness study, and the pediatric KRN23 trials, so we can report back to our members as soon as information is available.

We know there's even more we could be doing. We're looking into more places where we can interact with doctors and dentists, and more ways to interact with XLH patients and their caretakers to get you the best and most up-to-date information. We have to be realistic too, keeping in mind our financial and human resource limitations, but we'd love to hear what else you think we should be working on. You can send me your suggestions: GinJones at

Wednesday, July 9, 2014

ISPE-CaSA report

Back in April, we posted a picture on our Facebook page of our Board members attending the ISPE-CaSA event in North Carolina, but we've been so busy that we haven't had a chance to tell you all about it.

ISPE-CaSA is the Carolina - South Atlantic chapter of the International Society for Pharmaceutical Engineering. They hold a technology conference every spring, and they designate a "featured charity" for the event. This year, the XLH Network, Inc., was that charity, and we received a donation of Five Thousand Dollars (plus another thousand dollars from a raffle).

Dr. Ali Skrinar from Ultragenyx was kind enough to attend the conference and share some of her knowledge of XLH with the attendees. Our president, Becky Mock, also attended the conference, along with Board members Oliver Gardiner and Geoff Edelson, and local XLH Network members, Rebecca Putnam and Sheila Hunter.

The current ISPE-CaSA newsletter has a picture of Becky receiving the large check, and there's also a picture of the XLH booth at the event. You can read the newsletter here. (Scroll down a bit; the report starts on page 10).

Wednesday, July 2, 2014

Happy summer!

Your intrepid blogger is on vacation this week, working in her garden and celebrating the American Independence Day.

The XLH Network hopes everyone is having a happy and healthy summer. We'll be back next week with more news and stories about living with XLH.