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.
We are inching closer to our first STXBP1 Natural History Study with CHoP! The team is working on an IRB and on Grants to secure additional funding for research so that we may properly fund this effort.
A HUGE Thank you is in order to my amazing company, CSL Behring, and my colleagues for their generous donations. This study will be the first step towards finding a cure, bringing more courageous families together, creating greater awareness, and attracting attention from the best and brightest scientists as physicians alike.
Pictured here: Megan O’Brien (CHoP Registry Coordinator), Dr. Helbig, Dr. Bearden (Leads), Anne Johnson and her son Mitchell, and Cameron Barrett (CSL Behring)
It is a beautiful thing that parents come together around disease. All of us from different walks of life, different corners of the globe all come together to learn and understand STXBP1. As our numbers grow so will our growing pains as we struggle to find our identity in this orphaned disease world. I would describe our community in many ways but one way stands out from my perspective. There are those of us with very sick children who are desperate for a cure. I want something that will stop me from repeatedly running into my son’s room to make sure he is still breathing, especially on those sleepless nights when he requires Oxygen (We lovingly call them O’s). There are others with wonderful children who are making incredible strides in their development. Many of those parents want to enjoy those children and live in a world where they can create lasting and wonderful experiences for their children. In essence they accept their beautiful child as they are.
There are others who are scientists or parent-scientists who have taken to devour and embrace science without the benefit of formal education. Our “scientists” are those who want to move the community forward so that we have a therapy one day soon, even one that will only make an incremental improvement. We do this so that will be ready with those who want to participate to open the door to more possibilities. With the information, validated by geneticists, and neatly tucked away in a form usable by scientists and physicians we have a hope of moving forward. We want to move quickly towards progress. Many organizations make the mistake of thinking that the parent organizations alone will be enough. They are a beautiful thing for many but they are not enough if therapy is the end goal. For those of us in this position we need to keep our eye on the prize and move forward in this difficult journey. Our path is extremely painful, full of frustration, tears and sadness. It repeatedly tests our sanity, strength, our faith, and our relationships with others because of our passion to change the world.
There are many questions that weigh heavily on my mind (enough to keep me up many nights). Will we be ready if/when our research scientists come through for us? If we are not, what will this mean for future exploration in STXBP1? How can we keep the scientific and medical community engaged enough to keep their focus on STXBP1? I am so grateful to the many “scientists” who came before me and laid the initial steps that we can build upon. Building animal models was no small feat and I/ and many will eternally be in their debt for the sacrifices and passion it took to get us to this point.
As our community grows, will we be forgotten? Science is extremely unsexy and difficult to understand for many. It is not fun to discuss, unless you are a total dork like me. Science is expensive and it often takes years to realize benefits from an initial investment. Science is a sacrifice and is selfless because it may mean helping the next generation. Science is faith believing that the next improvement is right around the corner. Investment in R&D in this country is shrinking and we only have each other and our friends in this lonely journey called STXBP1. Let’s change the conversation and make science sexy again…. Let’s continue to stick together to help change the conversation. Let’s continue the fabulous work my fellow world scientists are doing to keep the focus on STXBP1.