Rare disease, rare art

The EveryLife Foundation For Rare Diseases (EveryLifeFoundation.org) is a nonprofit dedicated to accelerating biotech innovation for rare disease treatments through science-driven public policy. It sponsors an annual contest to recognize artists from within the rare disease community.

This year will be the eighth such event. This year, the organizers "hope to engage even more members of the rare disease community in order to raise awareness of their diseases and showcase their talent."

The deadline for entry is December 5, 2016, with prizes ranging from $100 to $500, plus the opportunity to have the winning work displayed at the Rare Artist Reception to be held on March 1, 2017 in Washington, DC in conjunction with Rare Disease Week on Capitol Hill. Artists with works chosen for this reception will be eligible for travel stipends.

For more information and the instructions for how to enter your artwork, go to http://www.rareartist.org/2016-art-contest/

Getting things done

If you're following us on facebook (and I hope you are: https://www.facebook.com/xlhnetwork), you probably saw a picture of Network president, Becky Mock, along with Board members Oliver Gardiner (who flew all the way over to North Carolina from London!) and Geoff Edelson (plus other member volunteers, Rebecca Putnam, Meredith Mock and Sheila Hunter) at the ISPE-CaSA conference.

The conference is an annual gathering of technical professionals in the pharmaceutical and medical device manufacturing industries. It was an opportunity to interact with a different group of medical professionals than we've previously met.

As Becky told me, they "had a great time, made new friends for the Network, received a five thousand dollar contribution from the organization and raised an additional thousand dollars in a raffle."

It was also an opportunity for board members to meet with representatives from Ultragenyx Pharmaceutical, including Dr. Ali Skrinar (senior director, clinical sciences) and Kim Mooney (Associate Director of Patient Advocacy).

Ultragenyx describes itself as "a clinical-stage biotechnology company committed to bringing to market novel products for the treatment of rare and ultra-rare diseases." Of particular interest to Network members, Ultragenyx is collaborating on the development and commercialization of KRN23 for treatment of XLH. Further information about KRN23 is expected to be released during an upcoming global conference for endocrinologists in Chicago on June 21-24. We'll have updates here as soon as we can.

In addition to the meetings and money (both of which are nice, of course), the ISPE-CaSA event also served as a deadline for completing some tasks that have long been on the Network's agenda. You may remember the video that SAB member, Carolyn Macica, was instrumental in putting together. We also updated our brochure, to include new research and other useful information. Finally, we had a banner made, so people could find us at the ISPE-CaSA event (and in future events where we have a booth).

Rare Disease Week

The last day of February each year is World Rare Disease Day. This year, it falls on February 28th.

Here in the U.S., several medical-professional and patient-support groups have gotten together to make the entire week into a time of awareness and advocacy for rare diseases. Today, representatives from the American Society for Bone and Mineral Research are meeting with legislators in D.C. as part of this awareness and advocacy work.

Two of the Network's scientific advisers, Suzanne Jan de Beur, M.D., and Michael Econs, M.D., will be attending some of the events, and so will Network President Becky Mock and Director Gin Jones.

Check back next week for an update on the experience.

Why I blog about XLH

We have a guest blogger today, S.G. Hunter. She's a member of the Network who's been blogging about her experience with XLH over the past two years at Banjogrrldiaries.wordpress.com . She describes herself as a 53 year old southern woman with x-linked hypophosphatemia and a sense of humor, and claims that both traits are genetic. 

I invited her to share her blogging experience with the Network, and this is what she had to say:

Someone suggested to me two years ago that I start a blog. I said, “What is that?”  I had heard of blogs, but didn’t know what they were. “A blog,” she answered, “is a personal website where people write about their experiences, thoughts, and feelings.”

I certainly had many emotions and physical changes to process. Once I turned 50, my body decided it had crested “the hill” and started flying down the other side. I began to experience new problems with XLH and reluctantly admitted that it was affecting my quality of life and that I needed the help of doctors.

When I started blogging, I discovered that writing is a great outlet. I had never talked much about my XLH. My brother, until last year, just thought I had arthritis. People who know me just thought I was bowlegged, had a bum knee and was of short stature. I didn’t want to be like some people I’ve known who only talk about their aches and pains. I didn’t want my “identity” to be wrapped up in a label. But at 50, the label “Aging with XLH” became difficult to ignore.

So I talked to my dentist, and then my family doctor, who set me up with a specialist. I began to admit to myself and a few family members that I was encountering additional problems related to XLH. And, as I am sure many of you know, our experiences with the medical profession can by themselves provide enough material to blog about for a lifetime. I personally can’t help but find something ironic or thought-provoking at every medical visit. I believe that’s the way life is, if you’re paying attention.            

Blogging was initially an outlet to express my feelings and thoughts about the physical changes and doctor visits. Then I made connections with other XLH-ers through my blog. When friends discovered I had a blog and wanted to read it, I told them “You’re not part of my ‘target audience’ but you’re welcome to read it. Just remember: I’m not writing for YOU.” I realized then that I wanted to write for other people with XLH. I hoped that my stories could make someone smile or laugh. So my blogging changed from writing for myself to writing for others like me whom I had never met. I’ve made wonderful connections through the blog.

Last year I wrote a post about my homemade limberjacks and offered my limberjack plans for free. I encouraged people who requested the plans to send a donation to the XLH Network. Several people requested the plans, and one person even sent me a copy of the receipt for his XLH Network donation. That made my day.

Blogging, for me, has changed. At first, I wrote for myself. Then I wrote to make connections and encourage others. Now I want to raise awareness too. I hope to continue writing for all of these reasons.

XLH Network members raise over $5,000

The Inmans, whose daughter has XLH, held a fundraiser this past Spring raising over $5000 for the XLH Network.   The fundraiser engaged local business owners, friends, and family and included raffle items, proceeds from dinner receipts, and sales of t-shirts designed by their daughter.   

In addition to raising money, the event raised awareness for XLH and showed that a small grass roots effort from dedicated people can have a huge impact.  

Below is a picture of Sandesr Inman presenting her t-shirt to Dr. Carpenter at the Yale Clinic for XLH.