Tuesday, January 31, 2017

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!

Thursday, January 26, 2017

2017 XLH Day: October 6-7

Mark your calendar: XLH Day 2017 will be held on October 7 (Columbus Day weekend) at Quinnipiac University's Frank Netter MD School of Medicine in North Haven, CT., with early-bird events on October 6. We'll have both educational and networking activities for adults and kids.

We hope to see you then!

Tuesday, January 24, 2017

Ultragenyx Pharmaceutical's Patient Day

Every year, Ultragenyx Pharmaceutical invites patients with certain rare diseases, including XLH and the related phosphate-wasting disorders, to their annual patient day in Novato, California, for food, games, refreshments and live music.

This year's event will be April 22, 2017, and a limited number of scholarships are available to pay for transportation and lodging. To get more information, or to register and/or apply for a scholarship, go here: https://digital.lenos.com/keymeetings/UltragenyxPatientDay2017/Content/Welcome

Scholarship recipients will be chosen on February 20, 2017, so apply before then if you're interested.

Please note that anyone currently enrolled in a clinical trial (or with a child enrolled in a clinical trial) sponsored by Ultragenyx Pharmaceutical may or may not be eligible to attend Patient Day due to federal regulations. When you register, you'll be asked about which trial you're in, and then the information will be reviewed and you will be contacted if you are ineligible to attend.

Thursday, January 19, 2017

What you can do

It's easy to fall into hopelessness and the feeling that there's nothing you can do to improve either your own XLH experience or anyone else's.

That's not true, though. There are several things you can do right now:

1. Keep yourself informed about the latest on XLH research and treatment options by joining, visiting and participating in our forum: XLHForum@xlhnetwork.org Don't just lurk. Say something, share an experience, ask a question, answer someone else's question!

2. Participate in the various research opportunities that are pending:
A. Survey on hip/knee replacement: http://quinnipiacmed.az1.qualtrics.com/jfe/form/SV_6n9bQ8DOWPiITvT
B. Survey sponsored by NORD and Oregon State University on the informational and psychosocial support needs of people living with rare disorders: http://oregonstate.qualtrics.com/jfe/form/SV_7VEgG8kwTizenAN

3. Participate in information-gathering interviews, like the one sponsored by Ultragenyx Pharmaceutical on pediatric issues (or future interviews that will undoubtedly include older age groups). For more information, contact Holly.Spencer at AdelphiValues.com

4. Educate yourself on important health issues. Global Genes is offering a webinar on February 1 about navigating the health insurance system. You can register here: https://globalgenes.org/rare-webinar-healthinsurnace101/?utm_source=Global+Genes+Master&utm_campaign=4abc3fc8b0-November_Webinar10_28_2016&utm_medium=email&utm_term=0_88feb79218-4abc3fc8b0-166285561

5. Plan to attend events where other XLH patients gather to share their experiences, like XLH Day to be held in Connecticut on October 6-7 (Columbus Day weekend). Volunteering at XLH Day would be a great way to help yourself and others too!

Tuesday, January 17, 2017

Peru National Paralympics

XLHers don't let their challenges keep them from accomplishing great things. This past November, three girls with XLH participated in swimming events at the 2016 Peru National Paralympics,  held at the Olympic Swimming Pool in the Callao-Lima Region of Peru.  

The girls underwent two months of intense training and constant practices, which paid off as they climbed the medals podium.  Marcielo del Pilar Gonzalez (16) took a first place prize, Sandra Valeria Arista (13 years old) a second place, and Mayda Ramirez (23) a third place.  

Marcielo and Valeria qualify to get further training to compete in the under-21 group for the ParaPanamerican Games in 2019.  Their teacher is Fernando Cuadros Cuadros and their trainer is Yajhaira Heidy Lazo Araujo.  

It should be noted that these athletes have overcome more disadvantages than some of the more fortunate members of the XLH community. Living in Peru, they cannot always find the medical assistance required for even basic treatment of XLH. Medicines that are taken for granted (especially the phosphorus supplements) are not readily available in many countries, including Peru.

On behalf of the entire XLH community, we wish the very best for Marcielo and Valeria as they continue training and eventually participate in the 2019 Games. 

Thursday, January 12, 2017

Interviews about pediatric treatment goals

The medical community is listening to patients more and more, and now the XLH community is in particular demand for sharing our thoughts and experiences as the time approaches for Ultragenyx Pharmaceutical to apply for early approval of KRN23 for pediatric use in 2017. Ultragenyx is looking to talk to a few pediatric patients and their parents to better understand whether their original goals for the clinical trials were correctly targeted and to get better insight into what children and caregivers think are the most significant ways in which better treatment might be meaningful. 

If you're interested in participating, please contact Adelphi Values, the research company contracted by Ultragenyx to do the interviews. You can reach Holly Spencer at holly.spencer@adelphivalues.com or 617-720-0001. Participants will be compensated for time and/or travel. More details are in the official flyer from Ultragenyx below.

Some members of the community have already offered feedback in other settings, like the Burden of Illness survey and the recent joint-replacement survey. We (and the researchers) appreciate everyone's contribution to science, but there's so much more to be learned. Potential new medical therapies like KRN23 require significant clinical research to make sure they're safe and effective and they're meeting the needs of patients and their families. Clinical trials, however, are only part of how the research community determines how best to treat patients living with chronic illnesses. Another important method consists of interviewing patients (and caregivers). 

Eventually, the Network's Natural History Study  (launching in 2017) will collect answers to a broad range of questions about experiences with phosphate-wasting disorders, so future research won't have to start from scratch. That will take time, though, and some answers are needed about the patient experience in the very short term, while the application for KRN23 approval undergoes review by the FDA and comparable governmental agencies throughout the world. Much of this information is related to whether or not the original goals for clinical trials were correctly targeted, and the only way to determine that is to ask further questions of patients. 

As always, The XLH Network, Inc. does not endorse or critique specific clinical trials, and does not counsel individual patients either for or against participation in any specific clinical trial. Prospective volunteers should always carefully review the clinical trial's informed consent documentation, and discuss the pros and cons of their participation with trusted advisers, including their health care providers and family members.

Tuesday, January 10, 2017

Filing for KRN23 approval from European Medicines Agency

Ultragenyx has announced that "the European Medicines Agency (EMA) has accepted for review the Marketing Authorization Application (MAA) for KRN23 for the treatment of X-linked hypophosphatemia (XLH). The MAA was filed and accepted in late 2016, and an opinion from the Committee for Medicinal Products for Human Use (CHMP) is expected in the second half of 2017."

You can read the full press release here: http://ir.ultragenyx.com/releasedetail.cfm?ReleaseID=1006547

Thursday, January 5, 2017

Meet the director: Elizabeth Olear

We're pleased to have a new board member, Elizabeth Olear, joining us. To help you get to know her, she's answered a few basic questions about what she sees as her role on the board.

How did you become involved with the Network? I began working with Dr. Thomas Carpenter in Pediatric Endocrinology at Yale in 2006 and started learning about XLH and meeting all of our wonderful patients. Somewhere along the way I was introduced to the XLH Network and immediately wanted to be involved in connecting patients to each other and to the greater XLH community, as well as providing opportunities for education. It was in this spirit that I conceived the first XLH Day which was held on September 10, 2011. What's your superpower (a skill that you'll be using as a director)? This one was a challenge so I ended up polling my colleagues for their thoughts and I was told that my super power is finding the eye of the storm. When things get hectic, as they inevitably always do, I have a knack for finding the center and the calm, and am generally able to bring some of the chaos going on around me to a peaceful and composed landing. When things seem impossible, I usually find a way to make things happen. And most importantly, if all else fails, I make a great chocolate cake! I’m not sure if it is a superpower, but I believe that my combined backgrounds in Child Development (note, this is not Child Life) and medical science give me a unique perspective to understand both the human experience (& needs, fears, hopes, etc.) of living with XLH (or having a child/family member with XLH) and the science of the disorder. Some of my favorite people have XLH so I hope that, as a member of the Board, I can do my best to represent their needs and give them hope for the future. What Network project are you particularly excited about that you're working on? I am particularly excited about education. One of our greatest responsibilities as clinicians and researchers, is to educate our patients about their health and about XLH; a well-informed patient has their own unique super-power in that they can advocate for themselves and their family members and provide the best possible health outcome in the face of this disorder. Secondly, as always, I am looking forward to bringing the XLH Network to a new generation of patients and their families. We are on the brink of some new developments for the treatment of the disorder and I hope, in a small way, I can be a unifying member of Team XLH especially for some of our younger patients and their parents, for patients with related disorders and for our international members around the globe. Rachael Jones and I have a special project we have already begun working on and we can’t wait to share it with you later in 2017!

Tuesday, January 3, 2017

News for the new year

Effective January 1st, we have a slightly rearranged slate of officers and an additional at-large board member. The current officers and board members are:

President: Bill Coogan
Vice-President: Joyce Inman
Secretary: Rachael Jones
Treasurer: Geoff Edelson
Returning board members at-large: Chris Younger, Oliver Gardiner, Kathy Buchanan, Gin Jones
New board member at-large: Elizabeth Olear

We'll have an interview with our new board member later this week, so you can get to know her and appreciate the excellent skills she brings to our work.

And one little bit of old news -- if you've had a hip or knee replacement, researchers would like to hear about your experience (and you'll get a Starbucks gift card in return). The survey will be closing soon, so if you want to participate, don't wait! Read about it here: http://quinnipiacmed.az1.qualtrics.com/jfe/form/SV_6n9bQ8DOWPiITvT