Monday, June 18, 2018

Help ensure access to life-saving treatment!

The regulating authority in England is set to decide, incorrectly we believe, that even though burosumab is safe and effective, it will not be made available to patients in the UK for financial reasons. There is a short window of opportunity (just until July 6) for patients' voices to be heard (from anywhere in the world, but especially from the UK), so speak up now! And share this post and ask your friends in the XLH community to act too!
To comment, you must register at NICE using this link.
The evaluation committee is interested in receiving comments on the following:
  • How do symptoms (both physical and psychological) and treatments (including any surgery) you or your child experienced in childhood affect you or your child in adult life? 
  • For children on standard treatment (phosphate and calcitriol), what are the side effects of taking current treatment (phosphate, calcitriol)? How is that a burden for the child and your family?
  • If you have a child who is 1-12 years old and on burosumab, please explain how this treatment is currently helping in the short-term and how you expect that it will help in the long-term.
  • If you have a child who is 13-17 years old and on burosumab, please explain how this treatment is currently helping in the short-term and how you expect that it will help in the long-term.

We believe in the power of our combined voices, and there is a reason NICE provides a window for discussion. It is imperative that we stand up for children and families in the UK and that we do so now. Please join us.
Finally, if you have any questions, feel free to email: oliver.gardiner@xlhnetwork.org

Resignation of Executive Director

The Board of Directors wishes to inform our membership that Carol LaFleur will be resigning her position as Executive Director effective at the end of the month. It has been a pleasure to get to know Carol over the past fifteen months and we thank her for her efforts and for the positive moves forward that she has helped accomplish during her tenure. I am sure you join us all in wishing her well in her future endeavors and our thanks for her dedication to the Network and the XLH patient community.

Thursday, June 7, 2018

XLH Day & Symposium October 4-7, 2018

An official message about XLH Day from the Founder and Chair of XLH Day 2018 Elizabeth Olear

This year we are combining XLH Day with a Symposium focused on the adult symptoms and complications of the disease for the FDA. In the coming days and weeks we will be providing complete information about the events of "XLH Weekend." 

What I can share today is that the venue for both the Symposium and XLH Day is the Hyatt Regency Baltimore Inner Harbor. https://www.hyatt.com/en-US/hotel/maryland/hyatt-regency-baltimore-inner-harbor/bwirb

Guest Rooms have been negotiated to start at $129/night. If you would like to reserve your guest room ahead of the official release of the block, please send an email to: elizabeth.olear@xlhnetwork.org 

We are looking forward to seeing you in Baltimore! Please check back here and at the OFFICIAL XLH NETWORK FACEBOOK page for the ONLY places where accurate and up-to-date info will be posted. 


Friday, March 23, 2018

First Latin America Summit


The first Latin America summit for XLH was held in Buenos Aires on March 2 and 3. Representatives of The XLH Network, Inc. were in attendance, including Board Member Elizabeth Olear and former board member Marina Velazquez, who joined attendees from Brazil, Columbia, Argentina, Chili and Peru to discuss XLH in children and adults. Topics included an update on burosumab and the recent approval by the European Medicines Agency. A panel discussion included an opportunity for questions and answers and a full day was dedicated to presentations by various advocacy organizations, including the XLH Network, Inc.

Presenters included Dr. Oscar Brunetto from Pedro Elizalde Children's Hospital, who provided a good overview of XLH. He also discussed several different types of bone deformities. Dr. Hamilton Cassinelli discussed issues related to children with XLH including quality of life. Dr. Ana Galich from Italian Hospital discussed the transition of care from the pediatric to adult population. She also provided a good overview of dental issues and the importance of oral care in the management of XLH. The physicians communicated the importance of the care team and making sure there is good communication and collaboration between the team of doctors that may be treating those with XLH.
Network volunteer and former board member Marina Velazquez discussed her family’s history with XLH. Representatives from Ultragenyx provided an overview of Burosumab and an update on the Europeans Medicine Agency approval for the marketing of burosumab in 28 European countries for children age one and up and adolescents with XLH. A panel discussion was also offered where attendees had the chance to present questions, many of which were focused on the approval of burosumab and its accessibility.

The second day of the summit included presentations by the various patient advocacy organizations. Belén Gonzalez Sutil presented on behalf of the ENHUE Foundation and provided an overview of its work in rare diseases and its interest in working with XLH. Luz Victoria Salazar from ACOPEL also gave an overview of its work in rare disease and their work in helping patients access treatment. They, too, would like to extend their reach to XLH patients. Antoine Souheil Daher from Hunter House provided an overview of its work with rare disease patients and what they are currently doing to help those with XLH.  Elizabeth Olear, Network board member, gave an overview of the Network, our services and priorities for the year ahead. She discussed XLH Day and our mission of promoting knowledge and education about XLH for affected families, medical professionals and the community in general; supporting doctors and other health care providers for better diagnosis and treatment; creating resources and a community for affected individuals and their families so they can understand and cope with the complications of the disease; and fostering the search for a cure. She emphasized that the Network is a global organization, helping connect patients around the world.

This summit was the first in a series of meetings that will be held with the international community. Steps for collaboration continued collaboration are already under way. Board members Elizabeth Olear and Oliver Gardiner are co-chairing the Network's international committee. Watch for updates!

La primera cumbre latinoamericana para XLH se celebró en Buenos Aires los días 2 y 3 de marzo. Asistieron representantes de The XLH Network, Inc., incluida la miembro del directorio Elizabeth Olear y la ex miembro del consejo Marina Velazquez, quienes se unieron a los asistentes de Brasil, Colombia, Argentina, Chile y Perú para discutir XLH en niños y adultos. Los temas incluyeron una actualización sobre Burosumab y la reciente aprobación de la Agencia Europea de Medicamentos. Un panel de discusión incluyó una oportunidad para preguntas y respuestas, y un día completo fue dedicado a presentaciones por varias organizaciones de apoyo, incluyendo XLH Network, Inc.

Los presentadores incluyeron al Dr. Oscar Brunetto del Hospital pediátrico Pedro Elizalde, quien brindó una buena visión general de XLH. También discutió varios tipos diferentes de deformidades de los huesos. El Dr. Hamilton Cassinelli discutió temas relacionados con los niños con XLH, incluida la calidad de vida. La Dra. Ana Galich del Italian Hospital discutió la transición de la atención de la población pediátrica a la adulta. También proporcionó una buena visión general de los problemas dentales y la importancia de la atención oral en el manejo de XLH. Los médicos comunicaron la importancia del equipo de atención y se aseguraron de que haya una buena comunicación y colaboración entre el equipo de médicos que pueden estar tratando a aquellos con XLH.

La voluntaria de XLH Network y ex miembro de la junta Marina Velazquez habló sobre la historia de su familia con XLH. Los representantes de Ultragenyx proporcionaron una descripción general de Burosumab y una actualización sobre la aprobación de la Agencia de Medicina de Europa para la comercialización de Burosumab en 28 países europeos para niños de 1 año en adelante y adolescentes con XLH. También se ofreció una mesa redonda donde los asistentes tuvieron la oportunidad de presentar preguntas, muchas de las cuales se centraron en la aprobación de Burosumab y su accesibilidad.

El segundo día de la cumbre incluyó presentaciones de varias organizaciones de defensa del paciente. Belén Gonzalez Sutil presentó en nombre de la Fundación ENHUE y brindó una visión general de su trabajo en enfermedades raras y su interés en trabajar con XLH. Luz Victoria Salazar de ACOPEL también brindó una visión general de su trabajo en enfermedades raras y su trabajo para ayudar a los pacientes a acceder al tratamiento. Ellos también quisieran extender su alcance a los pacientes con XLH. Antoine Souheil Daher de Hunter House brindó una visión general de su trabajo con pacientes con enfermedades raras y lo que están haciendo actualmente para ayudar a aquellos con XLH. Elizabeth Olear, miembro de la junta directiva de XLH Network, brindó una descripción general de The Network, nuestros servicios y prioridades para el próximo año. Ella habló sobre XLH Day y nuestra misión de promover el conocimiento y la educación sobre XLH para las familias afectadas, los profesionales médicos y la comunidad en general; apoyar a los médicos y otros proveedores de atención médica para un mejor diagnóstico y tratamiento; creando recursos y una comunidad para las personas afectadas y sus familias para que puedan comprender y enfrentar las complicaciones de la enfermedad; y fomentando la búsqueda de una cura. Ella enfatizó que The Network es una organización global que ayuda a conectar pacientes de todo el mundo.

Esta cumbre fue la primera de una serie de reuniones que se llevarán a cabo con la comunidad internacional. Los pasos para la colaboración, la colaboración continua, ya están en marcha. Los miembros de la Junta, Elizabeth Olear y Oliver Gardiner, son copresidentes del comité internacional de la Red. ¡Mire las actualizaciones!

Monday, March 19, 2018

Parenting adolescents with a chronic illness

Parenting adolescents or teens can be a roller-coaster for all of us. Parenting an adolescent with a chronic illness has its own set of challenges. Developmentally, your child’s job during this time is to develop their own identity and work toward independence. But when a child with XLH is naturally more dependent on you than their peers for things like medication routines, doctors' appointments, etc., it can create additional anxiety and stress and exacerbate any feelings of being "different." And we all know how an adolescent's stress levels can affect the family dynamic.

So how can you still monitor your child’s medical care and help them gain independence at the same time? Research suggests that allowing children increasingly more responsibility for their own care can help. Letting them have some time with their medical team alone, giving them the responsibility for taking their own meds, encouraging them to find social support among their affected and non-affected peers are just some of the ways an adolescent can take control of their own health and start to feel independent.

We’d love to hear other ideas from parents. What has worked/not worked in your family?

For more information: "Developmental Complications in Chronic Illness" https://www.urmc.rochester.edu/encyclopedia/content.aspx?ContentTypeID=90&ContentID=P01658

Saturday, March 17, 2018

In memoriam: Mary Ruppe, MD

The Network is sad to announce the passing of Dr. Mary Ruppe, who treated many children and adults with XLH. Please join us in offering condolences to her family, colleagues and patients.

Dr. Ruppe was affiliated with the Houston Shriners Hospital for Children and the Houston Methodist Hospital, and was well-known for her XLH expertise. She undertook XLH research and wrote or co-write several scientific articles about XLH, including the entry on XLH in Gene Reviews, an online publication of the National Center for Biotechnology Information (part of the National Institutes of Health). https://www.ncbi.nlm.nih.gov/books/NBK83985/

In addition to being a brilliant professional, Dr. Ruppe was also a compassionate clinician, beloved of her patients.

If  you never had the chance to meet Dr. Ruppe personally, you can see a bit of why we all admired her so much by viewing her video from Texas XLH Day in 2016: https://www.youtube.com/watch?v=O7CHg8Z-h8o&t=419s


Wednesday, March 7, 2018

Physical therapy videos

Have you ever had to try to explain to a physical therapist that there are some exercises you just can't do, no matter how hard you try, because your bones and muscles simply won't move that way?

We've got some instructional videos from a physical therapist who has worked with XLH patients before. Dr. Keith Steigbigl, PT, DPT, CSC, did a workshop on physical therapy for the 2017 XLH Day, and since that workshop wasn't recorded, he graciously arranged to record his recommended exercises separately, so everyone who couldn't attend the event can benefit from his advice. We're grateful to him and to Melissa Templeton, a student at Quinnipiac University's Frank Netter School of Medicine, who performed the exercises.

You can see all four videos at our youtube channel: https://www.youtube.com/channel/UCOCxS6CV6NeNxoFFivOyNpg

As always, be sure to check with your health care provider before starting an exercise program!

Monday, March 5, 2018

Hole in the Wall Gang Camp

The Hole in the Wall Gang camp in Ashford, Connecticut, in collaboration with the National Organization for Rare Disorders is holding a spring weekend for families dealing with rare disorders, May 31 to June 3. It's free, and the activities include fishing, campfires, arts and crafts, as well as opportunities for parents to chat with others in similar circumstances.

If you live in the northeast and your family would be interested, you can apply here: https://rarediseases.org/wp-content/uploads/2018/01/2018-Spring-Family-Weekend-Application.pdf

Wednesday, February 28, 2018

#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

Monday, February 26, 2018

Burosumab approved by European Medicines Agency

The European Medicines Agency has approved the use of burosumab in children (age 1 and up) and adolescents with XLH.

There is, of course, more work to be done in individual European countries to ensure access and to educate both the patient and medical communities.

According to the press release:
The European Marketing Authorization is valid in the 28 countries of the European Union and in Norway, Iceland and Liechtenstein. The first commercial launch of Crysvita is expected to take place in Germany in the second quarter of 2018, followed by other European countries.
You can read the whole release here: http://ir.ultragenyx.com/news-releases/news-release-details/kyowa-kirin-and-ultragenyx-announce-crysvitar-burosumab-receives

Wednesday, February 21, 2018

Questions about burosumab?

You know that the new treatment for XLH, the antibody to FGF23, and known as burosumab, is under consideration by the U.S. Food & Drug Administration and by the European Medicines Agency with (we hope) approval due sometime in the next few months.

You must have questions about what happens after the approval. We're working on some resources that will answer as many questions as possible about burosumab and how to discuss it with your doctor, your insurer and your pharmacist.

We've been wracking our brains to anticipate all your questions, starting with the belief that they're the same questions we have ourselves. But everyone's experience with XLH is different and everyone has different concerns, so we need your help to make sure we haven't missed any important topics.

So here's your chance to tell us what you've been wondering about for the future of XLH treatment. We won't be answering your questions right now (and we can't advise you on whether treatment is right for you or your family specifically), but we'll try our best to make sure that the materials we'll be publishing this spring will contain enough information to answer all your non-patient-specific questions.

You can send your questions privately to info@xlhnetwork.org, or post them in a comment at our official facebook page, https://www.facebook.com/xlhnetwork/

Wednesday, February 14, 2018

Valentine's Day hearts

How's your heart?

While some early research (of limited value due to the tiny number of patients studied) suggested a possible correlation between XLH and heart disease, some very recent research suggests that FGF23, the hormone that XLHers have in excess, may actually prevent/slow heart disease! https://phys.org/news/2018-01-anti-aging-hormone.html

The research is far too preliminary to be able to draw any conclusions about the XLH population's heart health. We hope our natural history study, launching later this year, will help us understand more about the incidence of heart disease in the XLH community.

In the meantime, take good care of your heart today and every day of the year!

Monday, February 12, 2018

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.

Wednesday, February 7, 2018

Save the date: XLH Day 2018!

This year's XLH Day on Columbus Day weekend (October 5-7) in the Baltimore/Washington, DC area is going to be bigger and better than ever!

We're adding a one-day pre-event called "Symposium on Hypophosphatemia: past, present and future," which will focus on the experiences and challenges for adults living with XLH and related hypophosphatemias, including the autosomal versions and Tumor Induced Osteomalacia. It's an opportunity to discuss these issues in a structured environment, with representatives of the medical community and the U.S. Food & Drug Administration in the audience. The event will be videotaped and transcribed for sharing with the FDA and the medical community (including your clinicians!).

To read more about events like this (which in government-speak are called externally-led Patient Focused Drug Development meetings, or PFDDs), check out this site (and don't be intimidated by all the jargon): https://www.fda.gov/ForIndustry/UserFees/PrescriptionDrugUserFee/ucm453856.htm

We'll have lots more information for you over the coming months, but for now, we're hoping you'll put the dates on your calendar and start making plans to attend. It's going to be fabulous, and we want you to be part of it.

Thursday, February 1, 2018

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.

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

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 info@xlhnetwork.org.

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 info@xlhnetwork.org.

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):

http://ecodiario.eleconomista.es/sociedad/noticias/8739900/11/17/Los-pacientes-con-raquitismo-hereditario-reclaman-un-diagnostico-precoz-y-el-acceso-al-tratamiento.html

 http://www.larazon.es/atusalud/salud/nuevas-opciones-para-tratar-el-raquitismo-GH16994064

http://www.actasanitaria.com/raquitismo-hereditario-cambio/

http://www.cuatro.com/noticias/sociedad/Pacientes-raquitismo-hereditario-diagnostico-multidisciplinar_0_2466975386.html

In addition, the president of AERHyO,  Sonia Fernández Serrano, was interviewed by MoreThanDoctors.com about XLH, and you can read the interview here: http://www.morethandoctors.com/?p=725

The AERHyO pesident also recorded an interview that can be viewed at youtube here: https://www.youtube.com/watch?v=191q_QVXGAg If you lose the direct link, you can find it in the playlist at the Network's youtube channel: https://www.youtube.com/channel/UCOCxS6CV6NeNxoFFivOyNpg

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.