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:

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

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!

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