SYNGAP1 organizations around the world are uniting to hold the first SYNGAP1 International Awareness Day on June 21, 2018. These organizations raise awareness, seek to better understand SYNGAP1, fund research into treatments and a cure, support families, connect with families who are new to or seeking diagnosis, and celebrate the children who are living with SYNGAP1. They invite everyone, especially the epilepsy community, to join “Splash for Syngap.”
What is SYNGAP1?
A genetic mutation in the SYNGAP1 gene leads to intellectual disability that ranges from mild to severe. In addition, SYNGAP1 symptoms include:
- Absence, myoclonic, atonic (drop), and reflex seizures
- Behavioral issues, such as inattention, impulsiveness, aggression, and rigidity
- Global Developmental Delay - onset in infancy
- Hypotonia (low muscle tone)
- Autism spectrum disorder
- Late walkers (14 to 30 months of age)
- Impaired language skills
- Dyspraxia (oral motor dysfunction)
- Pes planus (flat feet)
What is “Splash for Syngap”?
Kids in the SYNGAP1 community are known for their love of water. So, on June 21, help them celebrate and raise awareness by uploading pictures and videos on your social media accounts of you and your family and friends splashing and playing in water. Use the hashtag #Splash4Syngap and tag the SYNGAP Facebook Page at facebook.com/splash4syngap.
Help shine a light on SYNGAP1 by sharing a “Super Syngapian” story from the SYNGAP Facebook Page. By raising awareness, you may help a family with an undiagnosed child recognize the traits they share with these super kids. They can then ask questions and talk with their health care provider about whether genetic testing and specialty care from occupational, physical, and speech therapists could benefit their child. Let them know they are not alone!
Why June 21?
The SYNGAP1 gene is located on chromosome 6 on the loci 21.32 of the p arm. Therefore, 6/21 is a perfect day to celebrate!
About the Rare Epilepsy Network
To expedite research into the rare epilepsies, rare epilepsy organizations have joined forces with the Epilepsy Foundation, Research Triangle Institute, and Columbia University to create the first ever Rare Epilepsy Network (REN). With seed funding from the Patient-Centered Outcomes Research Institute (PCORI), the REN patient registry collects information about people living with rare epilepsies to better understand these conditions, optimize treatments, and improve life and quality of care for people living with them.
Bridge the Gap – SYNGAP ERF, an organization dedicated to serving families affected by SYNGAP1, is a REN member. At the 2018 Epilepsy Foundation Pipeline Conference, Bridge the Gap shared how building relationships between families and researchers led to increased trust and improved participation in the SYNGAP1 patient registry. In-person meetings between families of people with SYNGAP1 and researchers helped provide education, answer medical questions, and empower families. After hosting meetings between families and researchers, Bridge the Gap saw registry participation increase from approximately 90 participants to 121.
Let’s Make a Big Splash on June 21!