Wednesday, February 26, 2014

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.

Wednesday, February 19, 2014

The Social Media Flashlight: How Facebook Demystified XLH

We have another guest post today, this time from Jennifer West. She's the mother of an XLHer, who lives and works in the Wisconsin Northwoods. She's also an antique-collector and nature-lover. 

2009 was one crazy year. Our youngest child was born, and our daughter, Ada, was diagnosed with a spontaneous case of XLH. I was a hormonal mess, crying at the drop of a hat. I don’t think I ate very much, and sleep eluded me often. I lost weight, dropping down to my high school dress size, and I started getting sick. A lot. Tired and sick and confused. That’s my memory of 2009.

When that diagnosis came, after the X-rays and the blood draws and the appointments with first an orthopedic surgeon and then an endocrinologist, we were stunned. Rickets? And XL what? No brochures from the doctor. No resources. We were sent home with a stack of photocopies from a medical journal. We felt like we were walking through a tunnel without a flashlight.

I am a research junkie. Give me a topic, and I’m all over the Internet. So I pored over Google, traipsed through online medical journals, and read and read and read. And then I turned to Facebook.

I tentatively typed “rickets” into the social site’s search engine. And then “XLH.” A few results showed up, and I sent friend requests to anyone I could find who had referenced the condition. And then the notes came. Notes of encouragement. Notes of connection. There were others out there. I saw a glimmer of light. There was a path. I wasn’t the first to walk here.

C.S. Lewis, in his book, The Four Loves, said, “Friendship is born at that moment when one person says to another, ‘What! You too! I thought I was the only one.’”

I’ve always loved that quote, and I think it explains why social media is such an important resource when you’re dealing with a rare condition such as XLH. Social media eliminates geography. It says, “Find me, and I will share with you.” It links us. It pulls us out of that dark hole we’ve sunk into. As a parent, it helped the healing process, gave me a roadmap and encouraged me to move forward. Social media humanized the condition, and showed me that my beautiful daughter wasn’t defined by her disease. She was just that, my beautiful, incredible daughter.

These days, I use social media to update my friends and family on Ada’s appointments. Occasionally, I post a longer note about her overall status. It’s no longer the lifeline it was in the beginning, but it remains a valuable way to connect and share and explain this journey called XLH.

And, friends, because that’s what Lewis says you all are, thanks for letting me know I’m not alone.

Wednesday, February 12, 2014

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 . 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.

Wednesday, February 5, 2014

XLH and social media

We're kicking off the redesigned blog with a series of posts on the role of social media – blogs, Twitter, social gathering sites (like Facebook, Google+ and forums), and whatever comes next – in the XLH experience.

Today, the topic is using social media in the context of having a medical diagnosis, either for yourself, or for a family member. For some of us, having information at our fingertips can help reduce the anxiety and stress. Even when we can't change a situation, just knowing the facts can make it feel less overwhelming. Sometimes we can even find coping tools in other patients'/families' experiences, which we would never have thought of ourselves.

Of course, when gathering information from the internet, whether from a website or a blog, it's important to make sure that the information is coming from a reliable source. At the top of my personal reliability scale is the National Institutes of Health, which incorporates a blog into this page.

Somewhat more specific to XLH patients, although it encompasses other conditions too, is the American Society for Bone and Mineral Research. It too has a blog incorporated into its home page, which you can find here.

To get the most from social media, look beyond XLH-specific (or endocrine-specific or bone-metabolism-specific) resources to sites that address symptoms common to many conditions. For example, the Global Genes Project, which is a "rare and genetic disease patient advocacy organization" has a blog that features a variety of rare conditions. Check it out to see why you should be wearing jeans on Friday, February 28. You'll also read about other patients and families dealing with some of the same frustrations that we have in the XLH community. If you're interested in the politics of rare disease research funding, check out the blog of the Rare Disease Legislative Advocates.

I always find interesting information in the health section of my local (Boston) public radio station, where its blog is known as Commonhealth. It's a good source for new and timely issues in health care, and, located as it is in the midst of several world-renown medical centers, they have access to a wealth of contributing experts.

Perhaps those resources are all too technical and scientific for you. I admit that biology and chemistry weren't my best subjects in school, so sometimes I prefer a more casual, laid-back resource like personal blogs. They shouldn't provide medical advice, but they can help you put your own experience into perspective.

Network member S.G. Hunter has maintained an XLH-focused blog for the past two years. I'm not aware of any other blogs that are dedicated to XLH, but if you know of any, please drop me (shortleggedlife at a note about them.

There are plenty of blogs on just about any symptom you can imagine. Just as an example, you probably know that anyone with chronic illness is at risk for depression, and it can be helpful to not feel alone with the darkness. Internet blogging sensation, Allie Brosh, is an extraordinary storyteller and graphic artist, who somehow finds an uplifting message in the midst of depression.

Finally, if you visit any of the suggested blogs without finding anything that appeals to you, don't give up. Connecting with blogs is a bit like going on a blind date or reading a book that a friend recommended. Sometimes you're left wondering what on earth the friend was thinking. But when the connection is right, it can be life-changing. If you find that kind of great blog, please share it with me (shortleggedlife at, so I can pass it along to the rest of our readers.

Meanwhile, I hope you'll check back here regularly to see what's new, or else subscribe to the posts in email format. Next week, XLH member S.G. Hunter will share some thoughts about the blog she's maintained for the past two years, and the following week, Jennifer West will talk about how she turned to social media when her daughter was diagnosed with a spontaneous case of XLH.