Newly Diagnosed

Share your loved one’s story.

Individual DLG4 stories help us raise awareness and advocate for funding and research. They also help newly diagnosed families feel less alone in the world of rare diseases. Please consider sharing your story and making a difference in the lives of families affected by DLG4 Synaptopathy. Pictures and videos, even without telling your story, are immensely helpful to accomplishing our mission of raising awareness, funding research and supporting families.

Information to bring to your child’s doctor/neurology appointment:

Getting a rare disease diagnosis can be a scary time in a family’s life.  Know that you are not alone. Those with DLG4 variants have different sets of symptoms and no two patients are precisely the same. Early intervention, intensive therapies and appropriate seizure control are critical factors in patient outcomes. We are a small but mighty community, and we are in this fight together.

Understanding your genetics report.

When you receive a genetic test report, it can be overwhelming! What do all of those letters and numbers mean? Interpreting them is not for the faint of heart. Welcome to the world of rare diseases! If you have questions about your report, a genetic counselor is best suited to explain it to you. However, we often leave appointments with questions we wished we had asked or ones we didn’t think of until after the fact. 

We hope this document helps answer some of your questions.


This site is intended to provide basic educational information about DLG4-related synaptopathies. It is not intended to, nor does it, constitute medical or other advice. Readers are warned not to take any action regarding medical treatment or otherwise based on the information on this web site without first consulting a physician. The DLG4 Research Fund does not promote or recommend any treatment, therapy, institution or health care plan.

The information contained in this site is intended for your general education and information only and not for use in pursuing any treatment or course of action. Ultimately, the course of action in treating a given patient must be individualized after a thorough discussion with the patient’s physician(s).thorough discussion with the patient’s physician(s).