Tuesday, March 31, 2015

West Coast XLH Day registration is closed

West Coast XLH Day registration is now closed. We hope you've already secured your spot, and we look forward to meeting new friends and catching up with old friends.

Monday, March 30, 2015

Last chance for XLH Day registration

If  you've been waffling about going to XLH Day, it's time to make up your mind. Registration ends on March 30th, and we cannot guarantee hotel rooms or rates and cannot accommodate walk-ins on the date of the event. Reserve your space now at xlhday.com.

Wednesday, March 25, 2015

XLH Days, past, present and future

In the course of planning the West Coast XLH Day (registration is still open at xlhday.com, but closes at midnight March 30th, and while the event is free, you must register to attend), we've been thinking a lot about past events and the potential for future events.

In the process, we've been compiling a history of XLH Day events, which started in the fall of 2011. We have the basic facts about where and when the events were held, and what programs were offered, but we're missing the personal element, the stories about what it means for our members to attend an XLH Day.

If you've got a story from a prior event to share, we'd love to hear it and possibly add it to the history of XLH Day at the Network's website. You can send your story to gin.jones at xlhnetwork dot org, or post it in the comments to any of the West Coast XLH Day posts at facebook.com/xlhnetwork.

Meanwhile, here's a taste of the feedback we received the people who attended the Midwest XLH Day last year: "Our daughter is non-XLH and still stays in touch on facebook with XLH kids her age that she met at the 2012 XLH Day. 2012 was the first time our XLH son (and the rest of us) had ever met others with XLH. Before finding the XLH Network we were on our own and felt so lost."

We don't want any XLHer or their families ever to be lost again!

Wednesday, March 18, 2015


Today's guest post is by member Nancy J. Alauzen. She is an adult with XLH and a positive attitude. In her spare time, she loves to read and recycle.

I have had XLH since I was born over five and a half decades ago. My mom skillfully managed my XLH until my college graduation. The main thing that has helped me successfully manage my XLH has been my positive attitude, inspired by my last name, Alauzen, which is pronounced "All Is In."

Over 20 years ago I started a business and planned to be a professional speaker giving presentations on overcoming obstacles. A mentor suggested “All Is In Attitude” to capture the correct pronunciation of my last name and the way I approach life. I’ve known from an early age that the glass can be seen as 'half full' or "half empty." I have chosen to approach life with the glass "half full." This has helped tremendously with living with XLH.

Those of us who live with XLH can fill a sheet of paper (or more!) with the many challenges we have faced along  the way. Early in my XLH journey, I naively believed that having tibial osteotomies to correct the deformity of the legs was the only hurdle to overcome! 

My checklist has grown over the last 40 years to include some of the following: Tibial osteotomies and subsequent removal of the hardware; Baker Cysts; two knee replacements; modification to a knee replacement; hearing loss, DVT, parathyroidectomy, chiropractic and podiatric issues; and classic dental abnormalities for XLHers, including almost a dozen root canals, half a dozen extractions, two fixed bridges and five implants.

Your checklist may be shorter or longer but the questions remain the same. Is it easy to live with XLH? No. Is it manageable to live with XLH? Yes. How? I believe the one secret and key to successful XLH management is “All Is In Attitude.” If we see our glasses as half full, we can manage our XLH more successfully.

Wednesday, March 11, 2015

Burden of Illness Study data

The first official presentation of the XLH Burden of Illness Study's data happened this week at the 2015 ENDO Meeting of the Endocrine Society in San Diego, CA.

It comes as no surprise to XLH patients that the study confirmed that "XLH can lead to significant long-term morbidity in the form of pain, stiffness, functional limitations, and fractures," but it has long been a widespread belief among the medical community (outside the few specialists in XLH) that the condition was primarily one of childhood, without long-term consequences.

For anyone who hasn't already completed the study, it has been extended, and you can contribute your information here: https://www.amihealthy.com/custom/ultragenyx/burdenofillness/burdenofillnesshome.aspx?SITE=XLHNETWORK

For more on the Study's data, see the full press release here: http://globenewswire.com/news-release/2015/03/09/713519/10123739/en/Ultragenyx-Announces-Presentation-of-Disease-Burden-Data-in-Adult-Patients-With-X-Linked-Hypophosphatemia.html

Monday, March 9, 2015

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

Wednesday, March 4, 2015

West Coast XLH Day Registration

Registration for West Coast XLH Day (April 9-10) begins on Monday. We hope you will join us in Novato, California, to meet other families dealing with XLH, discuss the challenges, learn how others cope, and develop new strategies for managing your own or your child’s symptoms.

Due to a generous educational grant from Ultragenyx Pharmaceutical and Kyowa Hakko Kirin Co., Ltd, the XLH Network is offering a casual mixer as people arrive at the Best Western Plus, Novato, California, on Thursday, April 9th, and educational and social programs for both adults and children of all ages on Friday, April 10th at the Unity in Marin campus, 600 Palm Drive, Novato, California. 

The grant also enables the Network to reimburse up to thirty families for at least a portion of the hotel costs. The first thirty families to register will be eligible for reimbursement of the base cost for up to two nights at the hotel ($139.00 each plus tax). Instructions for claiming the reimbursement will be included in your registration packet when you check in on the day of the event. 

Guest speakers will include pediatric nephrologist Anthony A. Portale, M.D.,  and Network Scientific Advisory Board member, Carolyn M. Macica, PhD. 

Registration will begin March 9, 2015, at xlhday.com, and end on March 30, 2015. Please do not try to register before Monday, or your information may be lost. Advance registration is required for admission to the event. You must be a Network member to register, but joining is free. Just go to XLHNetwork.org, click on "become a member," and follow the links. Please note that it may take 24-48 hours for your membership to be activated. 

We look forward to greeting old friends and making new acquaintances!

Monday, March 2, 2015

Individually we are RARE . . .

. . . but TOGETHER we are STRONG.

That's the motto for Give RARE Day.

We hope you'll participate and support the XLH Network, Inc. Our page is here: http://giverare.razoo.com/story/Xlh-Network

If  you can donate, that's great. If you can't, there are other ways to help. The goal, beyond fundraising, is to bring together everyone who's affected by a rare disease to make our voices heard. There are more people affected by rare diseases than by cancer, and yet there's far less money and research invested in rare diseases.

So spread the word: Individually we are RARE but TOGETHER we are STRONG. Tweet about the event with the hashtags #giveRARE and #XLHNetwork, mention it on facebook with the same hashtags or simply have a discussion about Give RARE Day with friends and family to raise awareness.