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: https://digital.lenos.com/keymeetings/ultragenyxpatientday2018/Content/Welcome

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.


Wednesday, December 27, 2017

Latest data on KRN23/burosumab trials

The latest data from 48 weeks into the adult Phase 3 trials are really encouraging. They show continuing improvement in terms of pain reduction, stiffness reduction and improved fracture healing. Perhaps most impressive was the drop in painkiller medications that would seem to be an objective corroboration of the reported pain reduction (and especially encouraging insofar as pain medications carry with them some serious consequences):

[quote]The patient frequency of reported opioid use decreased by 76% from 17 patients (25%) at baseline to four patients (6%) at week 48 in the burosumab group, and by 70% from 13 patients (20%) to four patients (6%) in the crossover group [patients who started on placebo and therefore had only been on burosumab for 24 weeks instead of the full 48]. The patient frequency of reported nonsteroidal anti-inflammatory drugs (NSAIDs) use decreased by 72% from 47 patients (69%) at baseline to 13 patients (19%) at week 48 in the burosumab group, and by 74% from 43 patients (65%) to 11 patients (17%) in the crossover group. [/quote]

You can read the full report here: http://ir.ultragenyx.com/releasedetail.cfm?ReleaseID=1050531

Wednesday, December 20, 2017

Happy holidays!

We wish you happy holidays and a healthy new year!

You can see our holiday card at the official facebook page, https://www.facebook.com/xlhnetwork

Meanwhile, the board is taking a brief break to get prepared for what we hope will be a life-changing year for the entire XLH (and related hypophosphatemias) community.

Tuesday, December 19, 2017

Paid Market Research Opportunity

A company by the name of Magnolia Innovation is doing some market research relevant to the XLH community. They're offering a $125 payment for about an hour of time (beginning in January). Adult patients and the parents/guardians of minor patients are eligible to participate. For more information, visit : https://www.xlhmarketresearch.com/

NOTE: The XLH Network, Inc. does not endorse or critique marketing research projects, and does not counsel individual patients either for or against participation in any marketing research project. Prospective volunteers should always carefully review the researcher's documentation, and discuss the pros and cons of participation with trusted advisers.