In January of 2022, after years of concerns without answers, we received a diagnosis of Syngap1 Related Disorder for Hadley, based on full exome genetic testing through Mass General Hospital. In that moment, we finally had answers to the health and developmental concerns that Hadley was facing, but we also received a life long diagnosis with no cure or treatment.

With that, we were also welcomed into the most amazing community of other Syngap1 families and the incredible non-profit, Syngap Research Fund. Since then I have been dedicated to supporting SRF and supporting other families in our community. Hadley has participated in many studies, to include the Natural History Study at CHOP (Children's Hospital of Philadelphia). Through grants, research and studies we have learned so much about this disorder and we are closer than ever to treatments.

Since there is no cure or treatment currently, our children and adults do the best they can to manage seizures, sleep disturbances, autism, behavioral issues, hypotonia and a cascade of other challenges. Seemingly endless trials of medications, plus physical, occupational, speech and feeding therapies are common. Despite all therapies and medications on the market, many Syngapians and their caregivers struggle day in and day out.

Syngap Research Fund is on a mission to change this, by being the leader in funding science, research studies and cutting edge genetic research. We hope to have treatments and a cure in the future and can’t do that without help. We are hosting a Gala this September in Boston to help raise funds and awareness!

This fundraiser is to help support the Gala, especially for those who can not attend, but who would like to support the cause. All donations will go directly to the overall Gala fundraising.

Beacon of Hope Gala Fundraiser - Hadley

By Emily Barnes

Beacon of Hope Gala Fundraiser - Hadley