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!

Meet webmaster Jim Walker

This week, our webmaster, who prefers technology to essay writing, shares a little about his experience with XLH and involvement with the Network. 

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

My mother became ill when I was nine, with frequent and severe headaches. In my early thirties, I started having the same symptoms I remembered her having. With a little research I discovered her diagnosis was something none of my doctors had heard of, called syringomyelia. I did a little digging around and learned it was not known to be genetic. I knew we both had vitamin D-resistant rickets (the name I knew then), so I decided to research that. While searching the web I found the "Vitamin D Metabolism and Rickets Web Site," as our site was called then. I subscribed to the F-HYPDRR mailing list, and two days later the subject of headaches came up. I was sure there was a connection between syringomyelia and XLH, eventually found it, in a type of Chiari malformation, and had surgery to correct it. If only the XLH Network had been around while my mother was sick, she to might have found some relief.

I became more active with the Network in 2005, when the previous web-master stepped down. I volunteered to help out and have been doing so since. My goal has been to ensure that anyone searching the web for information about their symptoms will be able to find us. I hope soon we'll have information about the cure.

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

I enjoy technology and keeping current with it. I have an active interest in everything involving the internet. Getting to understand and playing with new technology is how I spend the little free time I have.

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

I'm excited to see all the new content posted to site and doing what I can to help accommodate that.

Meet Vice-President Bill Coogan

1. How did you get involved with the XLH Network, and then how did you become an officer of the organization? 

In February 2011, a round-table meeting was conducted at the Yale New Haven Hospital facility. Members of the Board of Directors were in attendance personally or via telephone. Besides Board members, people (members of XLH Network, family and friends of people with XLH ) who were interested in the direction the XLH Network, Inc. was headed in (and wanted to help in some way) were in attendance.

When the round-table meeting was adjourned the Board of Directors held an official Board meeting. At that official meeting I was asked by the President and Vice-President if I would consider filling the soon to be vacated position of Treasurer. My sister-in-law (who has XLH) who was on the Board turned to me and asked me to do it for her son and daughter (who also have XLH). It would have been totally unacceptable for me to say no since I was asked to do it for the sake of two people who are very dear to me. Since March 2011, I have been serving in Officer positions and being an Officer I am a member of the Board of Directors as well.

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

I don't believe that I possess a super power. Since my full time employment had been as a cost accountant for many years (I am retired now), to a certain degree it seemed natural that I would fit in reasonably well as Treasurer. My subsequent years of service to the XLH Network, Inc. has exposed me to many activities on the Board and I now currently serve as Vice-President. My ardent desire is to see the XLH Network function as a valuable asset to all those afflicted with XLH.

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

As Vice-President, I am enthusiastic about helping out in any way that I can with what needs to be done. New opportunities are opening up for us. These are exciting times and I want to assist in all of these opportunities. Each and every project that I work on, I am enthusiastic about because I know that every one of them will benefit our members in some way. That is what we are all about.

Meet Pol Harvengt

     This week, we're pleased to have Pol Harvengt here to share a little about his experiences as an XLH patient, a biologist and one of the founders of the patient-support group for French-speaking XLHers. You'll note too that he was one of the named authors of the recently published article, Therapeutic Management of Hypophosphatemic Rickets From Infancy to Adulthood, which can be downloaded for free at http://www.endocrineconnections.com/content/3/1/R13.full.pdf+html.

1. How did you get involved with the XLH Network?

When I was young, I was not at all interested in sharing my views on XLH. I had few symptoms and was in a state of denial. Time passed by, I get married and begun to discuss with my wife about founding a family. We consulted an expert geneticist in a famous hospital to get advice on disease transmission and potential severity of symptoms for the awaited child. The geneticist completely misread the literature and get us an overoptimistic picture. When my first child went to birth, we again acted proactively to get the baby blood-tested. Once more, the local padiatrician misread the reference values. Finally, the XLH diagnosis was confirmed a year later. 

The lesson was clear: we needed to identify a really knowledgeable professional to help us. When we finally identified a reliable endocrinologist, my daughter was 2 and was severely bow-legged. With treatment, three years later, the leg bowing was completely gone. 

This experience transformed us, and we felt it was important to share what we learned and to learn from others' experiences. I registered with the XLH Network and from that point, I've continued learning about XLH with great interest. I also realized how important and transformative it is to feel that you are not alone. Recently, I worked with a few other XLHers to found a patient group in France (the first French-speaking one ever) and we have started growing the organization. We hope that we can contribute to a global XLH community.

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

I am a biologist by education. I have a PhD in protein biology and I have worked in biotech research for more than 10 years. I had the opportunity to develop new research tools for a variety of human diseases (cancer, Alzheimer's) as well as new vaccines (Flu, cervical cancer). This gave me the opportunity to learn about human physiology and also to eaasily access scientific literature. Long before most XLH patient learned about new treatments (like KRN23), I had read the scientific reports describing the early discovery and development of these molecules, and even talked to some of the scientists involved in these programs. I was impressed by the kindness and desire to help shown by these brilliant minds. It is a real solace to know that people are out there looking for new ways to help us.

In our French patient organization, I serve as chairman of the Scientific Advisory Board and I am also really delighted to see how far our experts are willing to go to help. This year, our lead French expert will host the first KRN23 clinical trial in Europe, which is also the first XLH clinical trial in more than 30 years in Europe. That is a glimmer of hope and also the first tangible sign that things may change soon for XLHers. And that is probably only the beginning, since a handful of other molecules are moving closer to clinical trial stage. I am convinced we are living in a pivotal time for the disease.    

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

There is so much to do that it is difficult to select one or even a few projects. The initial priorities of the French XLH patient organization were: 1) create a flyer to help local health practitioners correctly diagnose XLH and also for patients to learn how to find experts;  and 2) convince French authorities to get the main phosphate supplement back on the market after the supplier decided to stop production. We've accomplished those goals and are embarking on new projects.

Recently, we had the opportunity to participate in the writing of a scientific review of information about XLH and its treatment. It is published in an open access journal and therefore free to download here. It can help patients access information for themselves or to share with their healthcare provider. That is the kind of project that I would like to develop more in the future, and it is certainly a working model for our organization, with a tight relationship between patients, scientists and also private partners, like biotech companies. Patients should feel empowered to propose scientific projects and should feel like active participants in their health treatment.

With the advent of regional patient organizations, we have the opportunity to build a global XLH community. The language and cultural barriers could still limit the interactions a bit, so I would suggest starting from the scientific model. There is a global language for science, and recent discoveries suggest new avenues to explore and new cures to develop. We will need united efforts from scientists worldwide to succeed.

Finally, I hope that with new therapeutic options like KRN23, we will significantly improve our conditions in the near future. Then I think that we should think about how to help patients in poorer countries that are left with minimal support and treatment options. That would be a formidable challenge and also a noble cause for the global XLH community that is in the making.

Meet Board Director, Ollie Gardiner

This is the first in a series of interviews of the people who are working on behalf of the members of the XLH Network, Inc., either as officers/directors or as scientific advisors.

Today, I'd like you to meet Oliver (Ollie) Gardiner. He is originally from Oxford, and now resides in London, UK. He is a professional video editor, working in design and website design. He has extensively exhibited work as an artist around the world.

Between his day job and his work for the XLH Network, Ollie's a busy guy (and so are you), so we're keeping the interview brief, with just three questions:

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

XLH is well rooted into our family, inherent in twelve family members spanning through four generations. As I've seen the many faces of XLH, my involvement in the XLH Network stems after finding out that some XLHers may never meet another. As I’ve found my family to be most important as we go through treatment, I could see there was a clear opportunity to help more people connect with one another.

2.  What is your "super power" -- the special skill, knowledge or experience that you bring to the Board?

I think I would prefer to be a superhero like Batman, who doesn't have superpowers per se, but who relies on his intelligence and use of the right tools to get the job done.

3. What XLH-related project are you working on now that you're particularly enthusiastic about?

I'm working with the University of Oxford as lead patient for the XLH community in the UK as they've recently been awarded funding to establish a new study, known as the "Rare UK bone, joint and blood vessel Disease study (RUDy)." With the introduction of new treatments this study will become ever more paramount in our global community. As these are the early stages of the study, stay tuned for more information. 2014 is an exciting year for us all.