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