We live in a world right now where access to research dollars continues to shrink. As I network at conferences and symposiums and meet with organizations that provide research dollars it becomes increasingly clear that labs are all competing for the ever-shrinking piece of the pie. Many labs are struggling to make it. Regrettably, epilepsy receives a MUCH smaller piece of the pie than it should given our numbers. Being that 1:21 people are affected by epilepsy, it is unfortunate that we obtain less funding than diseases that when combined are less than the people with epilepsy. ALS, MS, Parkinson’s, CP are an example of similar diseases that each receive more funding than epilepsy but when COMBINED do no equal our ever-growing numbers.
When I look at our disorder, I see that STXBP1 is at least 10 years behind similar genetic epilepsies with less numbers. STXBP1 is not as rare as many suggest and this belief is holding us back as a community. In this climate where scientists, and increasingly physicians, are not trusted we can’t continue to dismiss work from scientists and physicians who have taken the time to passionately investigate our disease. It is easy to think that our reality is the same reality for others in our community when it isn’t. A sample size of one or two, maybe ten may be important to those families in a small case study, but in the larger context we are all part of the tapestry that makes us STXBP1. Our collective experiences combined into a large Natural History study will create a better picture of what STXBP1 really is.
Instead of fighting what does not represent our individual reality, or those with the loudest voices, why not trust in what the numbers are trying to tell us. One study is a start but let’s continue to explore even larger studies so that we can TRULY understand what STXBP1 really means as a whole.