Wednesday, January 31, 2018

Upcoming events

Have you ever wanted to see the Board members in action? Perhaps say hello, ask us some questions, share some ideas, take a selfie with us?

Here are just some of the places you can find us in 2018:

February 27, 2018: North Haven, Connecticut
     Quinnipiac University's Rare Disease Day program (public is welcome)

March 2-4 2018: Argentina
     XLH patient advocacy meeting

March 16-18, 2018: Madrid, Spain
     XLH patient advocacy meeting

April 7, 2018: Novato, California
     Ultragenyx Pharmaceutical's Patient Day
     Informal Network get-together the night before, details TBD

May 16-20, 2018: Boston, Massachusetts
     American Academy of Clinical Endocrinologists' annual conference

September 28 to October 1, 2018: Montreal, Canada
     American Society for Bone and Mineral Research's annual conference

October 5, 2018: Baltimore/Washington area (details to follow)
     Symposium on Hypophosphatemia: Past, Present and Future

October 5-7, 2018: Baltimore/Washington area (details to follow)
     XLH Day

November 206, 2018 Orlando, Florida
     American Academy of Pediatrics annual conference

Monday, January 29, 2018

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:

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

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!

Wednesday, January 24, 2018

Wanted: XLH-experienced clinicians

Do you remember how hard it was to find a doctor who knew something about XLH, either for yourself or your child? For many XLHers, it's a time-consuming and frustrating experience, waiting months for an appointment, only to find out that the health care provider is the wrong one, so you have to start over. Or perhaps you stick with the doctor, only to find out months or years later that the advice being offered wasn't based on the most recent science, and your health declined as a result.

Wouldn't it be great if that didn't have to happen to others? If you have a good, XLH-experienced health care provider, you can help other XLHers avoid all that frustration, wasted time, and inadequate treatment by sending that health care provider's name and contact information (just city and state is enough if that's all you have at hand) to us at

The Network is hard at work making sure you'll have all the information and resources you'll need when, assuming all goes as well as we hope, the new treatment for XLH is available in a few months. One of the first questions that many patients will be asking is "where can I find a doctor who knows about burosumab?"

We already have a database of clinicians who have experience treating XLH, but it's got some pretty huge gaps in it. That's where you come in. You can help to fill in the gaps and save some fellow XLHers from the frustrating, time-wasting, health-endangering experience of dealing with a health care provider who's never heard of XLH before. Just send your doctor's name and contact info to

Thank you for your help!

Monday, January 22, 2018

Meet the director: Kimberly Murray

Our final new board member for 2018 is Kimberly Murray. She has XLH herself, as does her young daughter. 

1. How did you get involved with the Network?

The "right" answer should be that I became involved because I have XLH. But the "real" answer is that I became involved when I found out I was pregnant in 2015! None of my doctors had ever treated an XLH patient, so when I became pregnant, I knew I needed to take matters into my own hands and find answers. After a simple internet search (something I should have done YEARS ago), I came across the Network. I immediately joined and started connecting with the members via the forum and social media platforms. It was the very first time I had ever talked to someone else with XLH. My daughter was diagnosed with XLH in June of 2016, and we (my husband included) attended our first XLH Day that August. From that point on, I knew the Network would come to be a big part of my life, and my daughter's.

2. What's your "super power" -- the special skill, knowledge or experience that you bring to the board?

Oh boy this was a hard one to answer! I don't know if this qualifies as a superpower, but I'm a fighter. And I'm loud. I don't give up. And I make sure my representation is noticed when supporting or campaigning for a cause. I am hopeful that this energy I exude will have a profound positive impact in the lives of others within the XLH community, and help increase awareness of XLH as we move forward with the possibly life-changing events this year and thereafter.

3. What XLH project are you working on now that you're particularly enthusiastic about?

Honestly, helping out in any way I can! I think one of the most important issues is XLH education/awareness. Getting the resources and tools out there to patients, their families, their doctors, etc. I'd particularly like to see more names added to our database of doctors who have experience treating XLHers, and I'll be encouraging people with good doctors to share that information with us.

2018 is sure to be an exciting and possibly life-changing year for the XLH community. I look forward to being a part of the change that will hopefully make a huge difference in the lives of those fighting XLH!

Wednesday, January 17, 2018

Around the world with XLH: Spain

The Spanish Association of Hypophosphatemic Rickets and Osteomalacia (AERHyO) has been busy in recent months, advocating for Spanish patients and their families, and we're happy to share their news with the rest of our global community.

The group held a press conference in November 2017, with Dr. Manuel Diaz Curiel, consultant at the Bone Metabolic Diseases Unit of the Internal Medicine Department of the Jiménez Díaz Foundation in Madrid, to advocate for early diagnosis and better treatment. You can read about it in the following articles (linked to the original Spanish, but you can run it through Google Translate to get the gist of the articles):

In addition, the president of AERHyO,  Sonia Fernández Serrano, was interviewed by about XLH, and you can read the interview here:

The AERHyO pesident also recorded an interview that can be viewed at youtube here: If you lose the direct link, you can find it in the playlist at the Network's youtube channel:

Monday, January 15, 2018

Meet the director: Susan Faitos

Our next new board member is Susan Faitos. She has XLH and is a licensed Marriage and Family Therapist in California. 

1. How did you get involved with the Network?

Shortly after I got my first internet connection back in the 90s, I searched for anything to do with XLH. I found the old listserv and joined immediately, but I stayed on the fringes, not participating much. Up until then I had spent my whole life dealing with XLH on my own (I'm a spontaneous case), and it was almost overwhelming at first to hear other people's stories. It wasn't until the first XLH Day on the West Coast in 2015 that I decided to jump in and become an active member. That day changed my life in a lot of positive ways.

2. What's your "super power" -- the special skill, knowledge or experience that you bring to the board?

I think my superpower is my perspective as both an XLHer and a mental health professional. As a licensed therapist, I have spent my career working with children and families, in everything from medical settings to community-based mental health to private practice to trauma/crisis debriefing. My personal and professional experience combine to give me some insight in to the social/emotional development of children with XLH and the possible challenges they and their families might face. I hope to be able to find a way for the Network to support families more in this area as well as in all the other important issues faced by families living with XLH.
I've also got "oodles" of experience in large event planning, so I'm hoping to get involved in planning upcoming Network events! Finally, my colleagues would probably tell you that I have a way of bringing compassion and humor to the table, as well as a drive to cut through red tape and get things done.

3. What XLH project are you working on now that you're particularly enthusiastic about?

There are so many I am excited about! If I had to narrow it down, my passions include education and advocacy. Education for medical professionals and advocacy for patients. With the possibility of new treatment options on the horizon, I'd like to be able to help increase the number of doctors who are familiar with XLH and are willing to do the work necessary to treat it. I'd also like to find a way to reach those XLHers who might be shy about getting involved with the Network (like I was!) and help them access the tools and resources available to advocate for themselves in the medical arena.

As an adult with XLH, I'm encouraged by the work the Network has been doing to address the issues of adults with XLH and I am looking forward to becoming an advocate for the specific challenges of being an adult with XLH in this era, almost as much as I am looking forward to watching a new generation of XLHers grow up with greater access to treatment and fewer complications in later life. THAT is what excites me the most about being involved with this organization…the hope for the next generation.

Wednesday, January 10, 2018

Ultragenyx 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 have a superhero theme and be held on April 7, 2018.

There are 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:

Scholarship recipients will be chosen by February 1, so apply as soon as possible 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.

Monday, January 8, 2018

Meet the new directors: Sara Show

As previously announced, we have three new board members. Sara Show is here today to share a bit more about her involvement with the XLH (and related hyophophosphatemias) community. She's the mother of a spontaneous XLHer and is an attorney in South Dakota. 

1. How did you get involved with the Network?

In April 2016, we were in the process of trying to determine a diagnosis for my daughter. I was told that she was wasting phosphorus but could not have XLH because only males could get XLH. My sister and I spent days and hours researching all the phosphorus-wasting conditions, and my sister sent me the link to the XLH network. I signed up in hopes to learn more about phosphorus wasting conditions and to meet others with a similar condition. I was immediately contacted by a board member who promptly informed me that girls could have XLH as she was a female with XLH. From that day forward, I was in contact with many members of The XLH Network, Inc., who answered many question and helped me find a doctor to treat my daughter. Since being treated, my daughter's legs have straightened, her pain has lessened, and she is able to live a life similar to her peers where the sky is the limit. I owe a lot to the Network and sought opportunities to get involved with the Network to help others in the future, which has included working with the Fundraising Committee.

2. What's your "super power" -- the special skill, knowledge or experience that you bring to the board?

I am a problem-solver who likes to analyze and find resolutions to issues. I would like to bring my background in politics and law to the Board to help assist the Network with advocacy for members.

3. What XLH project are you working on now that you're particularly enthusiastic about?

I would like to assist with expanding patient networks and work on ways to help Network members advocate for themselves. Those with XLH (and related hypophosphatemias) and their families have to advocate for themselves with healthcare providers, insurance companies, government assistance programs, and in many other areas. I also hope to work to expand the resources available to members of the Network.

Wednesday, January 3, 2018

New directors for a new year

We're pleased to announce the addition of three new directors to The XLH Network, Inc., effective January 1, 2018.

The three new members are Susan Faitos, Sara Show and Kimberly Murray. We'll post mini interviews of them here in the coming weeks, but for now, here's a brief introduction:

Susan Faitos joined the Network in 1998, having been diagnosed with a spontaneous case of XLH at 18 months. She is a licensed Marriage and Family Therapist, and currently volunteers with Hospice of Santa Cruz County as well as Live Oak Community Resources. Her spare time is spent either on a bike ride to the beach, taking care of her three godchildren, or fervently trying to keep up with her new puppy.

Sara Show and her family reside in South Dakota. She joined the Network in 2016, after her daughter was diagnosed with XLH, later determined to be a spontaneous case. Sara is an Associate Attorney with a private litigation firm and has had the privilege to work for a Senator, the US Attorney in South Dakota, a State’s Attorney in South Dakota, and several Judges in South Dakota State Court. She enjoys spending time with her husband and their daughter, who has XLH, and son, who does not have XLH. She is also currently a member of the fundraising committee for the Network.

Kimberly Murray resides in Louisiana with her husband Tom and their daughter. Kimberly was diagnosed with XLH as a toddler, and her daughter was diagnosed at six months old. Kimberly has a passion for raising awareness of XLH. She currently works as a branch operations manager. Her hobbies include cooking, traveling, attending music festivals/concerts, and playtime with her daughter.