Throughout the year, we'll share upcoming events and research updates to help drive awareness about DLG4-related Synaptopathy.
An exciting personal update is that we recently started Harvey on a sub-group of drugs that have been identified to help other patients with DLG4, and Harvey for the first time in 2 years appears to be making micro-improvements, such as taking his first steps! We hope to study this drug on his cell lines and animal models to identify if there are other channels to help target Harvey’s mutation and improve symptoms for other children with DLG4. This is a huge milestone for Harvey and for our research! Right now researchers can’t explain why this drug might be helping, so we hope to help solve that problem, and it gives us so much HOPE that targeted treatments can and will make a difference in individuals’ lives with genetic mutations.
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