When my son Tony was born, he looked at me with an infant’s sense of wonder and amazement at being alive. And, in looking back at him, like so many parents discovering pure love, I knew my purpose now: to help him live his best life.
Tony was four when we received the diagnosis that the cause of his persistent and otherwise puzzling global developmental delays and epilepsy was genetic, a de novo mutation on one of his 6,000,000,000 base pairs, which causes his brain to produce only half of the required syngap, a crucial protein for learning and memory. Tony’s SynGAP-1 diagnosis was crushing, of course – we knew then that there was not a cure for his condition and that he would not outgrow it; in fact, as he continued to build his brain on a faulty foundation, the gap between him and his peers would only grow.
Our SynGAP-1 diagnosis, though, gave us direction and a way to hope. By joining a community of parents, we found that there were ~300 other families whose children suffered in a similar way. By engaging with leading neuroscientists and researchers, we found that the SynGAP-1 gene is well characterized, that there have been treatments for haplo-insufficiencies like SynGAP-1, and that there are other genetic epilepsies with potential treatments in clinical trials.
My husband and I founded the SynGAP Research Fund (SRF), then, because we believed it would help us to fulfill our promise to Tony. Our mission is, through research, to identify the treatments and the therapies that will enable patients with SynGAP-1 to live their best lives. We are seeking to raise $3-5m in funds to support research focused on gene therapies for our patients.
The values of the SynGAP Research Fund are collaboration, transparency, and urgency. We ask the researchers we fund and our volunteer team who work with us to live these values as we together seek a cure.
Collaboration: The almost 400 diagnosed patients in the SynGAP community share a painful bond, and we will help none of them if we do not work together. The SynGAP Research Fund is a member of the SynGAP Global Network, whose organizations in Australia, England, Germany, Spain, France, and Canada knit together our community and the researchers supporting it. The rare disease community includes 30m patients in the US alone. 80% of rare disease is due to faulty genes and as such may benefit from this research. As such, we have also actively sought out the insight and experience of other patient communities such as the Dravet Syndrome Foundation, EBRP, the Grace Science Foundation, as well as organizations such as Global Genes.
Transparency: We are a non-profit, incorporated in the State of California, and we have made our financials, our by-laws, and our scientific advisors, as well as all of the projects we fund, public on our website. We have asked our researchers to provide regular updates on their progress, which we will also share.
Urgency: Our children’s brains are being built. There is no time for delay. We are all volunteers and we are interested only in discovering, as quickly as possible, what can be done to help our children, and then doing it.
Tony, and all children with SynGAP-1, wake up every morning and find their way through the day, with insufficient amounts of a critical protein, with a steady increase in suffering, and without any real understanding of why.
We are determined to be, not only witnesses of our child’s journey, but also his guides. We seek a path for him that is as fulfilling as possible. We founded the SynGAP Research Fund because it is our belief and our hope that, with our help, his path may include a cure for his disease.
We hope you will help us to forge this path.
Ashley Evans and Mike Graglia
Co-Founders, SynGAP Research Fund, Inc. & Tony’s parents