CURE SYNGAP1 Conference 2025 – Family Day Feels Like Home

Kari Imperatore and Scott Savarese spend their day trying to stay one step ahead of 10-year-old Syngapian Trajan. They live in central New Jersey with the rest of their children and extended family. They are especially thankful for their support network of Fairy God Aunts and Grandparents who love to dote on Trajan. Kari is proud to volunteer with CURE SYNGAP1 as the Combined Federal Campaign (CFC) and ProMMiS (CHOP site) representative.

Below, Scott and Kari share their experiences at the CURE SYNGAP1 Conference 2025 Family Day. You can read more about Trajan in his Warrior Story.

Please note that all video presentations can be accessed at cureSYNGAP1.org/FD2025Videos. Photos can be viewed at cureSYNGAP1.org/Conf2025Pics.

Everyone at CURE SYNGAP1 would like to express our deepest appreciation to all the speakers, attendees, sponsors, and volunteers who made our 2026 Conference an undeniable and inspirational success! Thank you all!

Family Day embraced hope and community.

As the day progressed, the sense of family and community overflowed out the conference room doors, and no doubt will continue throughout the year as our SYNGAP1 community shares family values that unite us for life.

We started the day with family introductions. While we didn’t count the number of families, the room was full with parents, grandparents, siblings, and extended family. It was great to see friends we’ve seen in past years as well as newcomers and folks from around the world. Our hearts were warmed hearing from Robert, a Syngapian sibling, who traveled to the conference to understand other’s perspectives of living with SYNGAP1.

This was an ever present reminder that this rare genetic disease does not just affect the person with SYNGAP1 but reaches many corners of life. Observing the group as the day moved forward, it was apparent that many may have traveled from far and wide, but we knew each other upon arrival. Throughout the day it was evident that there are ties that unite the group through the struggles and successes of living with a Syngapian.

Citizen Health and COMBINEDBrain representatives spoke about the data they have collected and the ties that it has had to recent scientific work in the community. Citizen Health’s updates were incredibly promising. There are 289 patients in the SYNGAP1 cohort, one of the largest on their platform.

Our participation in the platform has allowed the scientific community to use our data and publish research that has moved our cause forward.

Additionally, they presented their AI capability to the group. As it is sometimes hard to personify our unmet medical needs and advocate for our kids, we are looking forward to using their AI advocate to assist with case management and communication with doctors. Parents can use this tool to be better prepared for doctor’s appointments, write an appeal to insurance companies, and can even produce text that can be used to better describe SYNGAP1 to friends and family.

As Katie Angione from Children’s Hospital of Colorado talked about the different SYNGAP1 variants, we took the opportunity to look at our own Syngapian’s test results and learned how to parse the codes so we can better understand what his SYNGAP1 looks like genetically. She gave a great overview of the different mutations and how they may affect our Syngapians differently.

She impressed upon us the importance of understanding your genetic mutation.

This can determine the eligibility for different therapies and trials. Some therapies may work better with some mutations versus others.

Note: the CURE SYNGAP1 website includes resources on interpreting your individual variant:
https://syngapglobal.net/dna-decoder/
https://curesyngap1.org/blog/understanding-your-genetic-report-with-syngap1-a-rare-disease/

Every parent knows that having the correct tools can impact our Syngapian’s ability to interact with the world; whether it be aids in communication or mobility. Dr. Jordan Wyrwa presented the impact of the world of Pediatric Medical Rehabilitation encompassing AAC devices, orthotics, and other adaptive tools. Such devices can bring light into darkness that Syngapians experience while struggling to complete fundamental activities of daily living.

Education for our Syngapians involves significant thought and effort. We have to deal with endless IEP meetings and frustrating school administration in order to advocate for our children. Kevin Frye and Lauren Perry talked about their own Syngapian’s school experiences. Both stories presented different views of general education versus out-of-district schooling. While having different messages, both stories relayed tales of how they had to advocate for their kiddos. In the end their children found happiness and success in their school environments.

Over the course of the day several people talked about the natural history study, ProMMiS. Alicia Harrison from CHOP, Mike Graglia, and several other presenters all mentioned how important it is for families to do the best we can and get to the one of the three testing centers every year. CHOP celebrated the attendance of 117 patients and the room glowed with smiles as the study was discussed. Colorado and Stanford are currently ramping up enrollment and data-sharing between the sites.

Mike impressed upon us the need to collect as much information as we can.

The more data we have in the study the faster companies can research their ideas and the sooner they can make an impact in our life. The more data we have, the better we can engage with researches leading to more people thinking about and working on SYNGAP1.

Another important message coming out of the day was the need to focus on behavior of our Syngapians. As they get older the challenges increase. It was cited that all negative behaviors inhibit our ability to learn and grow. Dr. Marta Dahiya, Aaron Harding, and Kathryn Helde, all three of whom are parents of older Syngapians, talked about how aggression has impacted their lives and how they dealt with these challenges. Every Syngapian is different, their needs are different, and as a result there are different treatments and avenues of support for each family. Mike brought up that all our young kids are getting older and an area of focus for CURE SYNGAP1 going forward will be on behavior.

As our brains were getting tired at the end of the day, we started hearing about clinical trials. 2 small molecule anti-seizure medicines as well as CAMP4’s ASO trials were presented. You can tell the mood shifted in the room to one of hope as we now have trials on the horizon that can bring us closer to a cure. Parents were encouraged to participate in trials. Even if you aren’t sure your Syngapian is a good fit, parents should contact the trial. Maybe in the near future the trial will be extended and your Syngapian will qualify. The more people that participate in trials, the sooner we get a cure.

Mike, who was probably the most exhausted in the room, encouraged all of us to continue to work hard for the community.

“I want your blood, I want your money, I want your time. We are competing for the smartest researchers and we must be collaborative.”

We all want a cure for our Syngapians as fast as we can get it. The way we do that is by contributing as much as we can to the cause. Volunteers contribute their time. Everyone is welcome to do something. The more the merrier. Money is needed to fund research. The more we give, the more researchers we can get involved and thinking about our cause. And those researchers need data. We should be contributing in the natural history study and providing genetic data. In order to be successful, we must all shape the future of SYNGAP1 and work together to achieve the greatest impact.

We ended the day at fabulous restaurant near the conference center. As we watched a fire eater and enjoyed paella family-style, we smiled at the many stories of hope, grace, and potty training shared by our SYNGAP1 family.