In November 2016, our world was turned upside down when our 16 month-old boys were diagnosed with SYNGAP, a rare genetic disorder with severe neurological consequences. Our hope that he would eventually catch up and lead a typical life was shattered. What hurts the most was knowing that Ty would have to fight every day of his life, work ten times harder than most people to accomplish simple things, and even worse, his seizures could take him away from us. As a mom this was devastating. I felt powerless and alone in this battle. I needed to do something, anything to help my child have a chance at a better future. With neither scientific training nor millions of dollars to fund research, what could I do to make a difference? I became an advocate!
I co-founded Syngap Global Network – a collaboration of Syngap advocacy groups around the world and became the patient engagement director of the Syngap Research Fund (SRF).
Along the way, I met incredible SYNGAP1 parents who share the same drive to do something to help. I also joined the rare disease world and learned about accelerating research and facilitating access to treatments.
There is so much to do and the clock is ticking! Mike Graglia — Managing Director as SRF — often says, “Time is brain” so we all have to be strategic on how we use our individual and collective skills and resources.
This is why I was incredibly excited at the opportunity to join another rare mom Nasha Fitter, at Ciitizen, a digital natural history platform that helps patients take control of their health and accelerate access to treatment.
I was introduced to Ciitizen when SRF was looking for a solution for our Syngap Natural History Study. I remember sitting through the first demo and being blown away by the technology. I was touched by the story behind the company’s creation and excited to have found a solution that not only accelerated research but also benefited families–by giving them access to their own data while requiring very limited time commitment on their part.
Traditional NHS are expensive, they take years to gather enough data; require time and energy from families that many just do not have. SRF has successfully onboarded 93 families to our Syngap NHS and I have already seen how it helps families, mine included, to access better care, get second opinions, and feel more in control of our child’s healthcare.
I am honored to be part of the Ciitizen team. Through SRF, I already participate in the Rare Epilepsy Network, AGENDA, Global Genes, and the Epilepsy Leadership Council. I know how bad all rare organizations need help gathering rich clinical data. I am excited to help these groups, play a role in revolutionizing the patient-led healthcare model, and accelerate our paths to treatment.