Wednesday, September 28, 2016

The Network at ASBMR

President Bill Coogan and Board member Gin Jones represented the Network and the XLH community at the annual conference of the American Society for Bone and Mineral Research in September.

Data on the clinical trials of KRN23, the antibody to FGF23, which causes phosphate wasting, were presented during the meeting, and you can read about it at Medscape: http://www.medscape.com/viewarticle/869124 or in the press releases from Ultragenyx Pharmaceutical: http://ir.ultragenyx.com/releasedetail.cfm?ReleaseID=989901 and http://ir.ultragenyx.com/releasedetail.cfm?ReleaseID=989786

Bill and Gin also met with some of the Scientific Advisory Board members, and attended the Rare Bone Disease event that included a presentation by Scientific Advisory Board member Suzanne Jan deBeur on XLH.

Dr. Karl Insogna spoke at another session on rare bone diseases, focusing on the symptoms and treatment of adults with XLH. He was particularly emphatic in warning clinicians about the problems with prescribing large amounts of phosphorus without adequate amounts of calcitriol/rocaltrol. He also recommended that patients stay active, particularly with non-weight-bearing exercises, like swimming and Tai Chi.

At our official facebook page, facebook.com/XLHNetwork , you can see pictures of the booth that was a joint effort by a group of rare bone disease organizations jointly known as the Rare Bone Disease Patient Network, and the poster that summarized some results from a recent study at Quinnipiac University's Frank Netter School of Medicine into XLHers' Gait, Mobility and Range of Motion.

Wednesday, September 21, 2016

Global Genes Patient Advocacy

The Global Genes Rare Patient Advocacy Summit is happening in California tomorrow and Friday (September 22-23). You can register for the livestream here: https://globalgenes.org/2016livestream/ If you can't watch them live, they'll be available afterwards to watch in the archives.

To get an idea of what the event is like, check out the previous years' archives here: https://globalgenes.org/pastsummits/

There are a lot of great topics scheduled for this year's event. One that stood out as particularly relevent to the XLH community is on transitioning care from pediatric to adult healthcare providers.

Global Genes is one of the leading rare disease patient advocacy organizations, and it works to build awareness, educate the global community and provide critical connections and resources that equip advocates to become activists for their disease.

Wednesday, September 14, 2016

XLH Symposium in Paris

Last week, there was a symposium on XLH in Paris for medical researchers and clinicians to learn and share their experiences. It was organized jointly by the RVRH-XLH patients' association and the Reference Center for Rare Disorders of the Calcium and Phosphorus Metabolism, https://sites.google.com/site/cdrpariscalciumphosphore/home , with help from other medical-professional groups.

Two of our  Scientific Advisory Board Members, Thomas Carpenter and Carolyn Macica spoke at the event. You can see the full agenda here: http://www.rvrh.fr/spip.php?article54

One of the Network's directors, Oliver Gardiner, was there to represent our patient community. He reports that the conference was hugely successful, with over one hundred medical professionals attending from over 23 countries  in order to discuss research and developments related to XLH and ADHR.

You can see a picture from the event at our official facebook page, facebook.com/XLHNetwork. It shows Oliver with the UK medical professionals who attended the event.

Wednesday, September 7, 2016

When to see a doctor

Too often, rare-disorder patients stop seeking treatment, because they're overwhelmed with all the medical appointments and they've come to believe that nothing can be done about their condition.

While it's understandable, it's also risky. Many XLHers have reported not knowing they had a broken bone for weeks or even months after the injury, because the pain didn't feel significantly different from the routine bone pain they'd experienced without having any broken bones.

Once in the habit of ignoring bone pain as just something to live with, it can be easy to ignore pain in other parts of the body. Again, we've heard many stories of XLHers not realizing they had a serious medical condition, because they were used to living with pain and waited longer than they should have before seeking medical treatment.

For most people, it's a fairly simple formula for deciding whether to go to the doctor: if they hurt, they seek treatment. For someone who hurts all the time, it's a more complicated decision, with a lot of trial and error and wondering if the right decision has been made.

For some suggestions that might make the decision a little easier (but not completely easy!), check out this guide from Psychology Today online.

Wednesday, August 31, 2016

XLH Around the World: Peru

Access to good treatment for rare diseases can be a challenge anywhere in the world, but XLH patients are resilient and persistent. 

You can read about a couple of families who are coping with the challenges of XLH in Peru here:  http://www.andina.com.pe/agencia/noticia-dos-adolescentes-muestran-como-una-enfermedad-rara-no-limita-sus-vidas-ni-proyectos-619074.aspx

To translate it (roughly), go to translate.google.com, and put the above link into the text box and click on "translate."

Wednesday, August 24, 2016

Working with your health care team

Global Genes (globalgenes.org) has a really outstanding webinar (video) at its site with suggestions for working with your health care team about your (or your child's) rare disease.

Three particularly interesting points were:

1) it's useful to write out a brief narrative of what the disorder is and what your experience with it is, and bring it with you to medical appointments to make it easy to tell new health care providers the basic information without forgetting anything important;

2) for children who are hospitalized, there are often "child life" professionals who can help with things that aren't exactly medical treatment, but that make the experience better, so be sure to ask for those services; and

3) for both adults and children who are undergoing a wide range of treatment and have had a case manager assigned at the insurance agency, consider that person part of your medical care team and keep him/her in the loop.

You can watch the whole thing here: https://globalgenes.org/rare-webinar-communicate-with-healthcare/

Wednesday, August 17, 2016

Representing the XLH community

Even as we're recovering from an amazing XLH Day in Houston, Texas (more on that next week), we're gearing up to represent the XLH community at other events this fall.

First up is the American Society for Bone and Mineral Research (ASBMR) annual conference in September, to be held this year in Atlanta. You can read about it here: http://www.asbmr.org/annual-meeting

We are part of the Rare Bone Disease Patient Network, which will have a booth at the conference, and is involved in a workshop that will include brief talks on a number of rare bone diseases. The section on XLH will be presented by the Network's Scientific Advisory Board member, Suzanne Jan deBeur.

Karl Insogna, MD, will be one of several doctors talking about "How Discoveries Lead to Treatment of Rare Bone Disease Treatment." His presentation will be focused specifically on XLH in adults.

In addition, several members of our Scientific Advisory Board will also be there for posters and/or presentations, and we'll report back on the details after the event.