Eden brings a special light to every room she enters. She is friendly, fun-loving, happy, and kind, and has a natural ability to lift others up.

Her difficulties presented early-on with feeding and continued throughout infancy and during the toddler years with speech and motor delays. Several diagnoses were identified over the years, but with each diagnosis came more questions, more concerns, and more confusion. None of these findings provided a clear picture about what was causing Eden’s challenges.

There always seemed to be a disconnect between what she wanted to say or do and how she actually said or did things. When describing Eden’s challenges—to family, friends, doctors, therapists, and educators—I would often hold both hands up in cupped positions with fingers pointing toward each other but not touching and say, “It’s like something just isn’t connecting”.

After sixteen years of searching for answers, that “something” (DLG4-related Synaptopathy) was confirmed. Receiving a diagnosis can be devastating. We know because they had been… several times over. This time was different. This time it made sense. This time there was no guessing. This time we embraced it because we were relieved to finally have an answer.

Finding this community has been so inspiring, helpful, and encouraging. We hope that sharing our story will help other families and progress research toward finding a treatment for DLG4 SHINE.