1. How did you get involved with the XLH Network, and then how did you become a member of the Board of Directors?
I became a member of the XLH Network in 2000. I was having debilitating joint pain and looked to the internet for answers. Turns out my issues were not related to XLH, but finding the XLH Network was truly life changing. I'm a spontaneous case and grew up knowing very little about XLH. I recall late nights reading through the listserv archives in complete amazement. Having my issues, especially dental issues, validated through the experiences of other members was overwhelming, in that I was not alone and there was an explanation for my issues.
Shortly after finding the network I found a specialist and started the standard treatment of K-phos and calcitriol. Through the information from the network I realized I was not being monitored properly, and I was being over-dosed. The specialist who claimed to have experience treating XLH clearly did not, and I moved on.
Through the network I found out about and participated in several clinical trials at Yale, which is where I finally met another real live XLHer in the flesh. This only took 40-some years! Several meetings were organized at Yale with XLH patients and the XLH Network in order to generate more volunteers and involvement for the network. What came out of this was the first XLH Day in 2011. I was part of the planning committee for this event and every XLH Day after that. In 2012 I surmised sleep was over-rated and joined the board. I am currently serving a 2nd 3-year sentence, oh I mean term, and chair the Communications and Technology Committee.
2. What's your "super power" -- the special skill, knowledge or experience that you bring to the board?
I like to think everyone with XLH has superpowers, having that additional something to overcome the extra challenges thrown our way. Maybe my superpower is the ability to be involved in a lot of activities and still keep my head above water. Well, maybe it's being super crazy, or the inability to say no, which may be genetic. I'm one of nine children and my mother was always asked how she ended up with had nine kids, and her response was, "I guess I couldn't say no." See, genetic!
In any event, I'm an electrical engineer and have been working in the semiconductor business for 30 years. The job is quite demanding and ever changing but keeps me on my toes and pays the bills. My second "job" is the XLH Network. Giving back is important to me and the work I do for the network is a small price to pay for all the information that I have received. It is also a pleasure to work with the rest of board, as they are an outstanding group of unselfish, dedicated professionals.
Additionally, I'm a musician and songwriter and have been performing with my wife in a band for the last ten years. We have an original CD and perform pretty much anywhere small objects can't be hurled at us. (Shameless promotion is tempting here but I'll behave.)
I'm also an exercise enthusiast and make time to work out. I think this is the best Rx we can do for quality of life issues. So holding all this together along with the other routine aspects of life can be quite challenging. When all these things peak at the same time I do question my sanity and consider scaling back, but see above (inability to say no).
3. What XLH project are you working on now that you're particularly enthusiastic about?
As mentioned above I chair the Communications and Technology Committee. Personally, I update our websites, participate on the XLH Day committee, and help maintain our online sites. We are a virtual organization and everything we do is based on technology. As a committee we make sure our existing technology keeps working and meets our needs, and then look to see what's out there for improvement. Our communications are based on technology and this is also reviewed constantly to make sure we are reaching members in the best way possible and that we are providing a mechanism for member engagement.
Some exciting future projects are a new integrated website with a more value added member site. We also realize the listserv is very old technology that doesn't compete with today's social media experience, so we are looking at viable replacements. Without giving away too much we are also working on and investigating sites for various media.
Now, to get on my soapbox (because I like to feel tall once in a while), keeping this organization going is very difficult with volunteers, and growing it is even harder. Sustainability is the key, and in order to do that we need all members to be engaged, and everyone with XLH to be members. Our disease is rare, our population is small, no pun intended, and we need everyone's involvement to be successful. Imagine the network with paid staff, with representation at every major medical conference, funding research, influencing insurance coverage, and the list can go on and on. It won't happen on its own, and surely can happen faster with the support from all members.
Now can someone help me down off this box . . . .
Wednesday, May 20, 2015
The XLH Network is always interested in recruiting volunteers to help us meet our mission. We realize that we talk about our need for volunteers frequently, but at this time of year the nominating committee always considers how to increase involvement in an attempt to ensure that we have our bases covered and that we are continuing to grow and extend the reach of the Network. We want all patients with XLH to have access to early diagnoses and the best treatment possible, and it takes a lot of volunteers working together to try and meet this goal!
As we look toward 2016, the nominating committee is hoping to recruit volunteers in any number of capacities. Do you like to write? We need volunteers who are interested in writing blog posts about their experiences with XLH. Are you interested in moderating conversations on the forum we are developing? We need volunteers who are interested in trying out the new forum and being trained in how to moderate various threads. Also, there's been a lot of discussion lately about future XLH Days in various parts of the world, but to make that happen, we need volunteers to help organize them. There might be opportunities for less formal regional gatherings too, but again we'd need someone local to be part of the project. Are you interested in serving with others as a point of contact for your region? And, finally, we have a number of other initiatives that aren't ready for unveiling, and we could use people with organizing, clerical, photography, tech, graphic design, local fundraising, database design, and public speaking skills to help us meet our goals.
Of course, we would love it if you could commit to lots of hours every month, but we can also use help that just involves one hour per month, or project-based assistance that begins and ends with a specific project.
The Network is growing, and it is exciting! But as we grow, we are going to need more and more help from volunteers to ensure that we are reaching as many families and medical professionals as possible. We hope that 2016 is the year you will volunteer your time. If you are interested in volunteering, post on our Facebook thread or send us a private message. We are looking forward to everything the next calendar year is going to bring!
Wednesday, May 13, 2015
A report from Network President Becky Mock on last month's Ultragenyx Patient Day:
Ultragenyx hosted their second annual Patient Day on Saturday April 11, 2015 in sunny Novato, California. Approximately 68 XLHers and their family members joined other rare disease groups and Ultragenyx employees to celebrate the challenges and sacrifices that rare diseases patients make every day. The event was lots of fun with wonderful food and drinks, clowns, a video game truck, bouncy houses for the kids and a wall mural for self expression.
Ultragenyx CEO, Dr. Emil Kakkis, and four individuals affected by rare diseases, including our own President, Becky Mock, made presentations about their particular disease. The Ultragenyx tradition of naming conference rooms for people affected by rare conditions was carried on at Patient Day with one of the conference rooms being dedicated to Becky, in honor of all those affected by XLH.
A final highlight of the day was a special performance by the 70’s rock band, Three Dog Night, including their hits Old Fashioned Love Song, One, a new powerful song called Prayer of the Children, and of course, Joy to the World!
XLH Network members enjoyed the festivities and appreciated our selection for the special honor of a conference room named for all those affected with XLH.
Wednesday, May 6, 2015
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.
I was always a difficult person to buy shoes for. My feet are wide, so I generally had to get the next size up. I never truly understood the importance of having comfortable shoes as an XLHer. And now that I have you hooked, allow me to explain.
Many years ago, I slipped in the shower and broke the fifth metatarsal of my right foot. The so-called “soccer player’s injury,” or at least it was, according to the orthopaedic specialist looking after me.
Over the course of my recovery, I had a fiberglass cast and cast shoe. Both combined to have the effect of giving my right leg an extra inch in length, which leveled out my hips. Rather miraculously, this lead to a significant reduction in my back pain. So, I asked the specialist and he referred me to an orthotics clinic who outfitted my shoes with a raise designed to do the same job as the cast and shoe.
While my walking and back pain improved, it wasn’t perfect. And I didn’t understand why until I moved to France and my now well-worn shoes finally started falling apart. I got them re-soled but that made them increasingly uncomfortable. So, when a lace snapped, I put on some old trainers or running style shoes. Within a day or two, I felt more at ease on my feet and started walking better. So, I bought new trainer style walking shoes. They were cheap, but they were also a stop gap.
Again, my walking improved, as did my stamina for standing in the kitchen. However, as is inevitable with cheap shoes, they quickly became uncomfortable so on the recommendation of my Dad I researched some specific walking boots and went to try them on early in January. Again, I ended up buying a couple of sizes bigger than normal, but apparently French feet are smaller than Irish ones!
Happily, my new walking boots are far more comfortable than the old ones. And once again, I’m walking easier and have more stamina while standing in the kitchen. But the best part of this story is that I’ve drastically reduced my reliance on NSAID pills to manage my back and joint pain. I’ve gone from two to four pills a day to two pills a week. Although I do take one or two when I’m working.
I never realized that footwear could have such a profound effect on mobility and stamina. While I won’t be walking a 10K any time soon, I’m very grateful for the improvements. So, if you have similar issues, please consider trying some different shoes. You might be surprised!