Thursday, October 19, 2017

Survey ranking symptoms

As part of our preparations for meeting with the U.S. Food and Drug Administration as part of its review of KRN23/burosumab, we've created an extremely brief survey about the most well-known symptoms of XLH.

The survey is just four questions and takes less than a minute. It will only be open for one week, until midnight on October 26, so don't miss out on this opportunity for your voice to be heard.

You'll find the survey here:
https://www.surveymonkey.com/r/VVM7ZXF


Tuesday, October 17, 2017

The next generation

During XLH Day, our Scientific Advisory Board offered special recognition to a high school student, Lindsay Peifer, for her dedication to science.

Lindsay's XLH was confirmed by DNA testing and is spontaneous, which, she says, is "pretty obvious because I'm a full foot shorter than the rest of my family."

Like many other XLH patients, she grew up with many hospital visits to see specialists and had corrective surgeries, but unlike many others, she became fascinated with biology and the health sciences, especially genetics. In high school, she worked with the Network's Scientific Advisory Board chair, Carolyn Macica PhD, and John Sterpka to find her specific gene mutation by extracting my DNA from her cheek cells and preparing it for sequencing. She then presented her project at her school’s symposium and was interviewed by a local news station. She plans to study pre-medicine and genetics, cell biology, and development at the University of Minnesota, Twin-Cities, so she can help other people with rare diseases in the future.

During XLH Day, she did a presentation that addressed how she became interested in science in the course of trying to understand her own health, and then laying out what she'd learned in the course of her school project.

Thursday, October 12, 2017

What should the FDA know about XLH?

The XLH Network, Inc. will be meeting with the U.S. Food  & Drug Administration on  December 4, 2017 [previously set for January 2018], to make sure that the patients' (and their families') voices are heard as the FDA considers the safety and efficacy of KRN23/burosumab and whether to approve it for treatment of both children and adults.

As we're planning our presentation, we want to do our best to cover the entire spectrum of what it means to live with XLH. As we all know, XLH affects so many systems of the body, and there's a wide variation in symptoms and severity. We know what we ourselves have experienced (or what our family members have experienced), what we've read on our listserv, forum or Facebook page, and what we gathered from XLH Day attendees this year.

But we still don't have the full story. We don't have your story.

What would you tell the FDA  if you had just two minutes to give them your message?

If  you don't know where to start, here are some things to think about: Perhaps you'd want them to know about your biggest XLH-related challenge in your career or personal life. Or maybe there's one particular XLH symptom that, if treated, would improve your life dramatically. How would your life be different if you didn't have that particular symptom, even if you still experienced other symptoms? Is there something you've always wanted to do, but felt you couldn't because of your XLH? Or, for those of you who have XLH and also a child with XLH, is there one thing in particular that you wish your child wouldn't have to experience the way you did?

Send your message no later than November 1, 2017 to ExecutiveDirector@XLHNetwork.org  Our time with the FDA is going to be brief, so we need to ask you to keep your message concise, no more than one hundred words (that's about half of a double-spaced page) and focused on the one XLH-related challenge for which you would particularly like a medical solution.

Thank you for helping us tell our community's story. Together we can make a difference and help the FDA understand the need for this new treatment, as well as for additional research.

Wednesday, October 11, 2017

FDA due to rule by April 17, 2018

The U.S. Food and Drug Administration has set the calendar for its review of KRN23/burosumab, the promising new treatment for XLH, and granted "priority review" status that will expedite the process. A decision is due from the FDA by April 17, 2018.

Tuesday, October 10, 2017

Get your copy now!

Our book, Weak Bones, Strong Wills, the Stories of XLH is available now at major online retailers!

Here's an excerpt from the back cover copy:

Our bones are soft, our lives are hard, but we are strong and resilient. We persevere, despite all the challenges. But if there's one thing that can slow us down, it's the lack of solid information about the real-life consequences of our rare medical condition. That's why we're here to tell the real stories of XLH and the people affected by it. Not the medical jargon, not the numbers and charts, but the real-life experiences of patients and their families. 

Thank you to everyone who submitted a story. We couldn't have done this without you!

Once you've read the book, we hope you'll post a review at your distributor of choice. Reviews are especially important for reaching readers who may not know anyone with XLH, but would like to read about what it's like to live with a rare medical condition, as well as those who have XLH but haven't heard of the Network yet!

Here's where you can get your copy:

Paper copies
Amazon: https://www.amazon.com//dp/1975845803/

Digital copies

Bn.com: https://www.barnesandnoble.com/w/weak-bones-strong-wills-the-stories-of-xlh-the-xlh-network-inc/1127123821?ean=2940154555545









Wednesday, October 4, 2017

How non-scientists can affect medical science

While we're preoccupied with the final arrangements for XLH Day, we thought you might be interested in a TED talk by Sharon Terry on how she came to embrace citizen science, despite having no background in medicine. She is President and CEO of Genetic Alliance and the founding CEO of a research advocacy organization for a genetic condition that affects her two adult children.

You can watch it here: http://www.tedmed.com/talks/show?id=619693

If Sharon's talk inspires you too, consider contacting our Executive Director, Carol LaFleur, at info@XLHNetwork.org to see how you too can get involved in advocating for the XLH community.