#ShowYourRare

Today is #RareDiseaseDay to raise awareness of rare disease.

In state and national capitols all around the world, rare disease advocates are making an impact and putting a face to rare disease. In Washington, DC, there's a whole week of activities, as you can see from a recap of a previous year's events here : https://youtu.be/FVcWGzY7pm8

You too can #showyourrare online or wherever you live.

Please consider a Rare Disease Day gift to the Network and help us work toward a potentially life-changing 2018 for our entire XLH community. You can donate here: https://xlhnetwork.networkforgood.com/projects/45764-rare-disease-day-champions

Rare Disease Day at Quinnipiac University

Have you signed up to be a Rare Disease Day champion? There are lots of ways you can do that! Get all the details you need here! 
https://xlhnetwork.networkforgood.com/projects/45764-rare-disease-day-champions

And while you're making plans, consider attending Rare Disease Day (a day early on February 27) at Quinnipiac University. Our president, Bill Coogan, will be in the audience and the public is welcome.

Countdown to Rare Disease Day

We are officially kicking off our Rare Disease Day Campaign today!

The theme of this year’s Rare Disease Day is "Research." We all know how important research is for the XLH community, and as we gear up for a potentially life-changing 2018, we hope you will become a Rare Disease Day champion.

You can download our toolkit for ways to participate. Have your city or town declare February 28th as Rare Disease Day! Tell your story! Host a meetup!

Or you could participate in #HandprintsAcrossAmerica with the information here: http://rarediseaseday.us/get-inv…/handprints-across-america/

You can also help us raise funds on Rare Disease Day by creating a personal campaign and letting everyone know why the Network is important to you.

Save the Date: Rare Disease Day 2018

How will you be participating in Rare Disease Day this year? It's just one month away, on February 28. You can help spread awareness of rare diseases generally and your own rare disease in particular by downloading our toolkit and becoming a Rare Disease Day Champion. You can also #shareyourrare at Facebook by adding a Rare Disease Day frame to your Facebook profile here: ow.ly/5jot30hSp3C

This year, Rare Disease Day is particularly focused on the importance of research. We all know about one potentially life-changing result of research (burosumab), but there's lots more going on. Just recently, we saw the results of a study on whether conventional treatment (phosphorus and calcitriol) can help with bone density: "Continuing conventional medical therapy in adulthood, although associated with increased bone resorption, does not promote or prevent loss of bone mass as evidenced from the stable aBMD of the hip and spine in XLH patients."

This was a study with just 27 patients, only 11 of which were on conventional medical therapy, so more data is needed to confirm the conclusion. Nevertheless, the conclusion is consistent with what most patients already know, namely that conventional treatment has some benefits for adults, but is far from a cure! And we need more research on this and related topics.

You can read more here: "Impact of Conventional Medical Therapy on Bone Mineral Density and Bone Turnover in Adult Patients with X-Linked Hypophosphatemia: A 6-Year Prospective Cohort Study." in Calcified Tissue International November 2017 https://www.ncbi.nlm.nih.gov/pubmed/29143140

And then go check out our toolkit so you can plan how you'll be spending Rare Disease Day, advocating for more research for all rare diseases. It's time to #showyourrare!

Research brings hope to the XLH community

Patients with X-Linked Hypophosphatemia (XLH) are living the theme of this year's Rare Disease Day: "Research brings hope to people living with a rare disease."

Virtually all of the estimated 7,000 identified rare diseases have no truly effective treatments available, and until recently that was true of XLH. This year, though, XLH patients will be celebrating Rare Disease day on February 28th with renewed hope as researchers are closing in on what appears to be an effective treatment. XLH is a rare genetic disorder that affects approximately one in 20,000 people.

Patients produce an excess of a hormone known as FGF23, which causes them to have low levels of phosphorus in the blood. Without an adequate source of phosphorus, the body cannot form strong bones and teeth or properly fuel muscles. In the absence of treatment, patients experience bone deformities (most commonly bowed legs or knock-knees), short stature, spontaneous tooth abscesses, bone pain and muscle pain/weakness.

The role of FGF23 in the disorder was not known until 2000, when the hormone was first discovered. Since then, research has provided preliminary answers to a number of questions about XLH, and even to a proposed treatment, currently under review by the European Medicines Agency, and expected to be submitted to the FDA in the second half of 2017.

Clinical trials of the new treatment, known as KRN23, have been promising so far. This Rare Disease day, the XLH community is hopeful that with this treatment or others still in the pipeline, children born in the future will grow up strong and energetic.

The mother of a one-year-old infant in a clinical trial of KRN23 notes that this research "means everything to me." She goes on to say that "having this same rare disease and remembering the surgeries and treatments I endured makes me extremely grateful that my daughter is included in this trial."

For parents of slightly older children, there is nothing like the thrill of seeing their children improve noticeably. One mother of a ten-year-old girl notes that she hopes this research has led to a new therapy that will not cause the same problematic side effects of the only other therapy available to XLH patients. "Being part of a research trial has been intimidating," she says, "but it is so worth it. My daughter’s health is clearly better, and we are helping to pave the way for others."

The new treatment also offers hope to older patients whose bones are long past the critical growing years. One sixty-something XLH patient in a clinical trial of KRN23 hopes that the new treatment will prevent her mobility restrictions from getting any worse. "I may walk slowly," she says, "but I get where I need to go eventually. If my condition worsened, I might not be so independent, and that would be devastating."

Founded in 1996 and growing daily, The XLH Network, Inc., a 501(c)(3) non-profit, helps thousands of people around the world who are affected by XLH and related phosphate-wasting disorders. With the generous guidance of a Scientific Advisory Board, the Network engages in education, advocacy, and patient support by providing up-to-date information on diagnosis, treatment, research and clinical trials to patients, caregivers, medical providers, researchers and other key players in the medical services industry. The Network also fosters the search for better treatments and ultimately a cure.

For more about the XLH Network: XLHNetwork.org For more about Ultragenyx Pharmaceutical: Ultragenyx.com For more about the KRN23 clinical trial data: http://ir.ultragenyx.com/releasedetail.cfm?ReleaseID=989901 For more about Rare Disease Day 2017: www.rarediseaseday.org

Rare Disease Day February 28, 2017

What will you be doing on Rare Disease Day? There are activities all around the world. Find one near you: http://www.rarediseaseday.org/events/world

This year's theme is of particular interest to XLHers: "Research brings hope to patients living with rare diseases."

For those living in the U.S., the National Organization for Rare Disorders (NORD) is organizing state-level advocacy events, and could use your support. Find out about those organized events or learn how to organize your own here: http://rarediseaseday.us/events/advocacy-events/?utm_source=RDD17_email1&utm_medium=email#1474294382939-7c2f74aa-19892f0d-7a12

Board member Gin Jones will be on a panel at the event sponsored by Quinnipiac University's Frank Netter School of Medicine in North Haven, CT (a day early, on February 27). You can read more about it (and plan to attend if you're in the area) here: www.qu.edu/rarediseaseday 

XLH Information for Rare Disease Day

The theme for this year's worldwide Rare Disease Day is "Research Brings Hope to People Living with a Rare Disease." With significant research being conducted in relation to our own raredisease, we are all living examples of what this theme can mean to a patient group. So we are looking for our members to help us spread the word about XLH and associated phosphate-wasting disorders for Rare Disease Day 2017.

There are a few ways you can help!

•        We have prepared a press release and a cover letter that can be downloaded here (along with instructions for use) and sent to your local newspapers now (don't wait for February 28th). You simply need to personalize the cover letter so that local journalists can contact you if they have questions.

•        Even better, you could use our template and add a brief section about your own experiences with XLH and your hopes for what research can do for you, your family, and the XLH community. Local papers are much more likely to pick up the story when they realize that it is relevant to one of their constituents and can put a face to the name!

•        As Rare Disease Day approaches, use your social media outlets! Consider making a sign that includes this year’s Rare Disease Day theme and mentions that you have XLH, take a selfie with the sign, and put your picture out there for friends and family to see. Be sure to include The XLH Network's website, XLHNetwork.org, and our Twitter handle @XLH_Network, on your sign for anyone who wants to learn more. We have some premade ones you can download here.

The XLH community is living proof that research IS bringing hope to those living with rare diseases. We hope you will help us let others know!

Rare Disease Week Recap

Representatives of the XLH Network were busy in Washington, D.C. during Rare Disease Week.

President Bill Coogan and past president Becky Mock attended events at the NIH and displayed our literature there along with posters reflecting data from Ultragenyx's Burden of Illness study. You can get a taste of the proceedings by by viewing the speeches from the NIH, including comments by members of the U.S. Congress's Rare Disease Caucus and directors of government agencies dealing with medical issues.

Bill and Becky also attended events sponsored by the Rare Disease Legislative Advocates (a program of the EveryLife Foundation, a nonprofit dedicated to accelerating biotch innovation for rare disease treatments through science-driven public policy), and met with legislators to discuss the needs of the rare disease community. We'll have more later on some pending legislation of interest to members of the rare disease community.

You can see pictures from the event at our official Facebook page.

Rare Disease Day 2016

Next Monday, February 29th, is World Rare Disease Day.

Network board member Gin Jones will be part of a Rare Disease Day panel discussion at Simmons College, from 6 to 8 pm in the School of Management Building, Room M201. The public is welcome, and for more information, you can contact prehealth-liaison@simmons.edu

Also that day, Scientific Advisory Board member Carolyn Macica PhD is involved with the Second Annual Rare Disease Day event at Quinnipiac University from noon to 4 p.m. Pre-registration is required (no later than February 27), but is free: http://www.eventbrite.com/e/rare-disease-day-quinnipiac-university-2016-tickets-20780130931 The agenda includes a performance by Nora Johnson, a patient panel, and keynote speaker Dr. Frederick Kaplan.

For events in other locations, check out http://www.rarediseaseday.org/events/world

XLH Day registration & Rare Disease Day recap

Registration for the West Coast XLH Day (April 9-10) in Novato, California, is now open at xlhday.com. Thanks again to Ultragenyx Pharmaceutical and Kyowa Hakkin Kirin Co., Ltd. for the generous educational grant that makes this event possible.

In other news, our Scientific Advisory Board chair, Carolyn M. Macica, PhD, worked with her students to hold a Rare Disease Day event at Quinnipiac University's Frank H. Netter MD School of Medicine.

The topic was "The transition: Becoming an adult with a rare disease." Activities included a one-woman play, lectures, panel discussions and a reception, as well as a screening of the "Growing Up With XLH" video (which, if you missed it, you can find embedded at XLHNetwork.org, or you can see it on Youtube here: https://www.youtube.com/watch?v=UNwWgig69-c)

As explained in the flyer for the event: "30 million Americans have a rare disorder. With today's medical advances, more of these individuals are making the transition from adolescence to adulthood, but with this comes new challenges."

You can see a picture of the panelists at our facebook page (facebook.com/xlhnetork) or read more about the event here: http://hamdentimes.com/quinnipiac-university-mark-world-rare-disease-day-feb-27-program-transition-becoming-adult-rare-disease/5458/#more-5458

Give RARE Day

Rare Disease Day (February 28) is mostly about bringing attention to all of the diseases and their impacts. New this year is a related fundraising day, Give RARE Day, on March 3. The event was designed to acknowledge that more people are directly affected by a rare disease, more than the number of cancer patients who get more attention and research dollars.

The Network is participating in this first-ever Give RARE Day, primarily to raise funds for the next XLH Day (after the West Coast event on April 9-10). You can find our page here: http://giverare.razoo.com/story/Xlh-Network

We've heard from a number of our members that they would like to see more XLH Day events in more locations. We can't do that with our currently available funds or the amounts we expect to receive in our year-end funding. We can only host more events if we have additional funding and support from our members.

If you'd like to contribute to a fund for the next XLH Day (or other Network programs), Give RARE Day is an opportunity to do just that. There are a few ways you can help. First, you can make a donation yourself on March 3rd, which could make us eligible for additional funds from corporate sponsors. Second, you could simply spread the word on social media, using the #GiveRARE and #XLHNetwork hashtags on March 2 and 3. And finally, if you've ever wanted to hold your own fundraiser for the Network, but didn't know where to start, you can do it easily using the Give Rare platform.

To set up your own crowdsource-fundraiser connected to Give RARE Day, just go to our page, and you'll see an option to "fundraise for this cause." If you click on that link and set up an account, the money you raise by sharing your page with your contacts will go to the XLH Network, Inc., without your having to manage it yourself.

The platform is full of useful hints for setting up your page, and when you sign up, you'll get an email with some suggestions for spreading the word about Give RARE Day (like putting the link to your page in your email signature line and on your facebook profile!), a lot of which is automated. You can also see examples of individual pages set up by Board members (and at least one other volunteer at the time this post was written) at the XLH Network's Give RARE page. It only takes a few minutes, and if you get stuck, the platform's support team can help you (they're excellent, and should be able to answer all your questions if you send an email to support@razoo.com).

World Rare Disease Day

The last day of February is World Rare Disease Day, which is intended to raise awareness amongst the general public and decision-makers about rare diseases and their impact on patients' lives.

World Rare Disease Day is, as its name suggests, a global undertaking. It was founded in Europe, and now there are at least 84 countries participating.

In the United States, Global Genes has a week of activities in the D.C. area, and other local organizations have them scheduled through the country.

To look for an event near you, start here: http://www.rarediseaseday.org/events/world and then click on  your country.

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.

2013 Rare Disease Day Symposium

In February the 2013 Rare Disease Day Symposium was held in California at the Sanford-Burnham Medical Research Institute.    This year's topic was "Calcification Disorders - from Hardened Arteries to Soft Bones".   

Among the many esteemed presenters was our very own Scientific Advisor board member Dr. Thomas Carpenter presenting on "X-linked hypophosphatemia 2013: a clinical update of the prototype renal phosphate wasting disorder".   

Also attending and representing the XLH Network were Becky Mock, our new president, and board member Kathy Buchanan.  Becky participated in a panel discussion along with seven other heads of rare disease organizations.

The most exciting news is many of the presentations, including the panel discussion, were videotaped and are available online at the following link.  (Look for the play button on the presenters picture).
http://www.sanfordburnham.org/research/childrenshealth/genetic/symposium/Pages/2013.aspx

Talks relating to XLH are:
Dr. Thomas Carpenter M.D. - "X-linked hypophosphatemia 2013: a clinical update of the prototype renal phosphate wasting disorder"
Kenneth White, Ph.D. - "FGF23: a common denominator in metabolic bone diseases"
Panel Discussion - hosted by Charlene Waldman
The other talks may be of interest and worth viewing as many of the other rare diseases share similarities with XLH.