Virgine is the Director of Patient Engagement for SRF & the founder of the SynGAP Global Network. She has been a leader & advocate in the SYNGAP1 community for years. Learn more about her in this article profiling the global group of #SyngapLeaders.
Being told your child has a rare genetic disorder with no treatment available is devastating. I felt completely powerless when my son received the Syngap1 diagnosis 4 years ago. Nothing I could do would ever be enough until we, as a community, found a treatment. I have no medical background and limited free time but I immediately had a burning need to just do something—anything—that could help our son, Ty.
Over the years, I read everything I could about Syngap, met with Syngap leaders, researchers, attended conferences and participated in clinical studies and registries. I have raised money, awareness, shared Ty’s story whenever and with whomever I could, co-founded the Syngap Global Network, and joined the Syngap Research Fund team as the Patient Engagement Coordinator. I checked every box I could in the “How to help” checklist, mainly to satisfy my own need to do something, to have the illusion of some control.
If you are interested in being part of SRF we welcome any family who wants to join us in helping our kids. However, we recognize that not everyone has the bandwidth or feels the need to dive deep into the world of SYNGAP1. No matter how involved you want or can be, every family has the power to make a big difference with only 15 minutes of their time by joining the Ciitizen SYNGAP1 Digital Natural History Study.
Natural History Studies are critical to accelerate treatment because they help define what is measured in clinical trials. Whether a drug, a precision medicine, or some other treatment is found, it cannot get approved without a clinical trail. For that trail, you need an “endpoint” or something to measure; to find those, you need a Natural History Study. The bigger the patient group in the study, the more powerful the data. And only SynGAP families have the power to join and consent for data analysis.
A Natural History Study follows a patient group over time and collects data that helps scientists and researchers understand the disease and how it evolves. Traditional prospective longitudinal “forward-looking” Natural History Studies are usually expensive, take years to complete, and require families to answer questions every six months and to physically travel to a clinic to collect data. They are therefore at high risk of “drop-out” where families (often through no fault of their own) are unable to continue with the study. Additionally, families often never again get to see the data that were collected about the patient.
Ciitizen is different. They make it easy for families to join and keep records updated. Ciitizen securely pulls the entire electronic medical history of patients, using high quality data from existing medical records, clinician notes and imaging, instead of relying only on information provided by caregivers. Ciitizen digitizes and organizes the data, and provides a disease summary easily accessible to families and researchers.
When you sign up, you will enter all the medical institutions that hold the Syngap patient’s medical records. Ciitizen does the heavy lifting for you and will reach out to each one of them on your behalf. A couple of weeks later you will start seeing the medical records come in the platform. You don’t pay anything for this service.
It was a great feeling to have all of my child’s records accessible any time in a central place.
I found myself reading through many records and finding doctor’s notes I had never seen before. You can search through all of the records as they are nicely organized and share them easily with providers when needed.
SRF is governed and led by SynGAP parents and our priority will always be SynGAP families. We are all dealing with the daily challenges of taking care of a loved one affected by SynGAP. When we had the opportunity to advance research with limited demand on families (did I mention it only takes 10 minutes) and to provide a tool that can empower them, it was a near perfect solution.
Join the SYNGAP1 study. It is something urgently needed that only families with a SynGAP variant can provide. Each family that is added increases the power of the study. And a strong Natural History Study is required for any therapies to go to trial. This is totally free to families as SRF is covering the cost. You will get your own account at ciitizen.com with this study