The KCNQ2 Cure Alliance celebrated Rare Disease Day 2017 working to improve the lives of our children with efforts on multiple fronts. An international team of parents and KCNQ2 experts met in Denver today to set priorities for the coming year. At the same time, we were well represented in Washington D.C., as we joined hundreds of other advocates convening in the capital to raise awareness and advance issues facing patients with rare diseases.
At our meeting in Denver over the past two days, we laid out plans for many initiatives that we are excited to share with our community. We are getting ready to kick off our KCNQ2 Cure Awareness Week March 5-11th. Increasing awareness has helped accelerate the diagnosis of KCNQ2 encephalopathy and spurred rising interest by scientists and pharmaceutical companies in working on treatments. Details of the 4th annual KCNQ2 Cure Alliance Family and Professional Summit are really beginning to come together. The conference will be held in Boston, October 22-24, 2017. This year we are planning to expand on the 140 participants who attended in 2016, with new speakers addressing some of the issues many of our children face daily and many opportunities for families to share their experiences and support each other. The location in Boston puts us close to the experts at Harvard Medical School’s Boston Children’s Hospital, which is spearheading our KCNQ2 natural history study. This is a unique opportunity for the team working on the study to interact with many KCNQ2 patients in a very short time, that we hope could accelerate the progress of the study. Over the course of our meeting we also brainstormed about how we might most effectively help our KCNQ2 community, and expect to roll out several new initiatives over the coming months as a result of these efforts. Reviewing the progress we have already made in such a short time, as well as the opportunity for further advances, left us feeling inspired to push forward with renewed excitement.
We clearly can’t cure KCNQ2 alone, so Megan Roberts represented KCNQ2 Cure Alliance at Rare Disease day events in Washington, D.C. Rare Disease day is a big event with lawmakers in the capitol. Megan participated in a rare disease advocacy event organized by the Everylife Foundation for Rare Diseases that brought together over 300 rare disease advocates representing 48 U.S. states. The event featured speakers from congressional offices, pharmaceutical companies, and advocacy groups, including the National Organization for Rare Diseases and Research!America. The event gave the chance for Megan to network with other rare disease advocates and served as preparation for a full day of meetings with congressional leaders on March 1. There is so much to learn from other rare disease groups, many of whom have a much longer history and experience. We also value the chance to join together with them, using our larger numbers to influence policy and funding related to the FDA, the NIH, and other programs that could ultimately help advance treatments for rare diseases like KCNQ2. Together we hope to make them “Care about rare.”