Wednesday, July 4, 2018

Last chance to comment on UK decision about burosumab

There are only a few days left to speak up about the benefits of burosumab before the regulatory agency makes its final decision, possibly denying this life-changing treatment to patients in the UK. To comment, you must register at NICE using this link
The evaluation committee is interested in receiving comments on the following:

a)How do symptoms (both physical and psychological) and treatments (including any surgery) you or your child experienced in childhood affect you in adult life?
b) 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?
c) 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.
d) 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.
If you have any questions at all, please don't hesitate to get in touch. Comment below or email us at Oliver.gardiner@xlhnetwork.org

Tuesday, July 3, 2018

Survey on adults living with familial hypophosphatemia

The Pre-Event survey for the Symposium will help us to have even a bigger impact on our audience members, which include the medical community, researchers and insurers. Make sure your voice is heard! It will only take a few minutes. Click here to start:

https://docs.google.com/forms/d/e/1FAIpQLSe-dwpdUVrZ7-GauuFK3xDBjIRYUPiYr1s4QJe1v-cyCOMzMQ/viewform

Wednesday, June 27, 2018

Executive Director, Rachael Jones

We are excited to announce that Rachael Jones, a fellow XLH Network member, has agreed to assume the position of Interim Executive Director of the XLH Network effective with the resignation of Carol Lafleur at the end of this month. Rachael brings a wealth of nonprofit experience to this interim position, and as an XLH patient herself, she brings firsthand knowledge of what it means to live with XLH.
Rachael was born in Colorado and recently moved back to Colorado after spending most of her life in various states in the Southwest region. Rachael is married and has two young children. She spent several years as an administrator for non-profit organizations. She also loves to write and spent a couple years editing and writing curriculum for elementary students.
Rachael is passionate about the work that The XLH Network, Inc. does for XLH patients and caregivers. After attending XLH Day in 2013, she became involved in subsequent XLH Days to help with children’s programs. The daughter of a spontaneous case, Rachael was diagnosed at birth with XLH, and her brother, two nieces, and her own two children also have the condition. In all, there are seven people in her family who have XLH. Rachael desires to find more ways to connect XLH patients and families, and as part of her passion for children and writing, she plans to help develop materials for children with XLH.
Please join us in welcoming Rachael!
The XLH Network, Inc., Board of Directors

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!