As Dale Carnegie once said, “Most of the important things in the world have been accomplished by people who have kept on trying when there seemed to be no hope at all.” When the founding members of the Dravet Syndrome Foundation (DSF) originally came together, it was because we each had a child with Dravet syndrome (DS) or an undiagnosed epilepsy. We were frustrated by the lack of treatment options and we believed there had to be something we could do to make a positive impact on our children’s current and future quality of life.

As parents, we understood the urgency of the situation and the need for research. We had assumed that since DS had a known genetic mutation and the onset was clearly defined that there must be a great deal of research happening. Instead, we were surprised to learn that there was very little Dravet-specific research taking place at that time. We came to understand that epilepsy research in general is significantly underfunded in comparison to other disease categories, such as breast cancer, when it comes to federal funding. By the time you further funneled down to something as specific as DS, there was little to no funding available. At that point we knew that if we wanted to accelerate the pace of research, it would need to be a parent-driven effort. We decided to focus solely on raising funds for research, with an initial goal of raising $100,000 for a single grant.

Not only were we pleasantly surprised when it took us less than one year to raise those funds, but we were amazed at how many families wanted to join these efforts. It was exciting to see that they shared in our feeling of hope through research and also felt empowered by working toward a common goal. While our supporters were motivated, we realized that our small community on its own could never raise enough money to fund the amount of research and clinical trials it would take to get to the point of better treatments and a cure for DS. We needed to find a way to multiply the impact of the funds that we had.

We decided to focus our awards on pilot grants that would allow a researcher the opportunity to test their unique hypothesis and gather preliminary data that would strengthen a future application for a larger research award through the National Institute of Health (NIH) or other funding source. We also wanted to allow these researchers the opportunity to establish their place in the field of epilepsy research and in DS in particular. We believed that this type of pilot funding would be a sound investment which would offer substantial dividends to the community. This proof of concept was first validated for us through the funding of Dr. Scott Baraban’s 2011 project, Gene Profiling and High-Throughput Drug Screening in a Zebrafish Model of Dravet Syndrome. Not only did his pilot project data result in a significantly larger NIH grant award for his lab, but it also identified existing compounds which could potentially be repurposed for use in treating DS. Dr. Baraban’s lab continues to focus a portion of its research on DS and several of the postdoctoral fellows who have worked in his lab have gone on to continue to work in the field of DS and other sodium channelopathies. Our investment was nominal for the results we received.  

Because of the passionate support of our community, DSF has been able to underwrite a significant amount of research in a short time and has made an enormous impact in the field of DS. As a rare disease community, this support does not come from large foundations or billionaire donors. Our donors are made up of families and friends of patients affected by DS. We are a small community of donors that recognize the importance of research and has risen to the challenge of funding it. Since our inception in 2009, DSF has awarded over $4.2M in research in DS through 44 projects. This is more than any other nonprofit organization has awarded to Dravet-specific research. The DS community plays a vital role in advancing research – this is research that otherwise would not have happened without your support. And this research has already led to important breakthroughs. By leveraging the funds we have given in pilot grants, we have seen our past grantees go on to receive more substantial funding from other granting organizations. Of the 19 researchers DSF invested in through 2015, 6 of them went on to receive large NIH grants, for a return rate of 32%. There is no denying the power and impact of this ripple effect, and we know that our return rate will only continue to grow.

As DSF’s research grant support continued to grow, we learned there were other gaps and needs in our community that we needed to address to help our patients, families, clinicians, researchers, and industry members. Each of the programs DSF has developed have been strategic so that they would offer incremental achievements that improve current care and move us towards a cure. Next week, I will tell you more about the programs we have developed in order to assure we are working as a connected and cohesive community.

All the best,
Mary Anne