DLG4-related Synaptopathy | DLG4 SHINE Foundation

Supporting Families While Advancing Research to Find Treatment for DLG4 SHINE

Mother and father squatting behind seated rare disease son with dog at their side smiling happily on their front porch

DLG4 SHINE family of six standing in coordinating outfit colors and smiling

DLG4 Synaptopathy, or DLG4 SHINE is an ultra-rare disease caused by a genetic mutation on the 17th Chromosome. Patients living with DLG4 SHINE typically endure trouble with Sleep Disturbances, Hypotonia, Intellectual Disabilities, Neurological Disorders, and Epilepsy, thus the name “SHINE”.

Happy DLG4 SHINE family of four hugging and smiling in front of stream and greenery

Mother wrapping her arms around and three sons while all happily smile on boating excursion

7

Research Studies

$1,000,000+

Fundraised In Four Years

326

Known Individuals Diagnosed

Our SHINEing Stars

Although they navigate numerous struggles in their daily lives, our SHINEing stars are generally all smiles, love to celebrate even the smallest victories, and spread joy wherever they go.

Ivy is the little sister to two older sisters. She loves spending time with the big kids and wants to do everything they do. She is full of love and will quite literally knock you over with one of her hugs.

Her love of animals and climbing are two of her greatest joys. She loves singing along to Taylor Swift and running as fast as she can, just like a cheetah.

Although Ivy didn’t put two words together until she was three years old, she has been a daredevil from the very beginning. As soon as she could stand, her favorite thing to do was climb as high as she could on anything she could find. Because of her hypotonia and poor core strength as a toddler, she would even use her head as an extra point of support to help herself balance.

The park is one of her favorite places, and the pool is truly her happy place.

Due to childhood apraxia of speech, Ivy isn’t always easy to understand and can be hesitant to talk with new people. But once you learn her language, she never stops chatting. She has so much to say and loves sharing her thoughts with the people who know her best.

Writing has been especially challenging because of her fine motor difficulties. School was once a place she loved, but as the demands of writing increased, it became overwhelming. Eventually, the anxiety surrounding the “hard writing” became so significant that our family made the difficult decision to take a break from school.

After a few months away, Ivy has returned to her happy, joyful self. She is once again the adventurous, loving, energetic little girl who reminds us every day that progress isn’t always measured by how quickly you move forward, but by having the time and support to grow at your own pace

Ivy

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From Our Families

SHINE A Light On DLG4 - A Family Documentary

DLG4 SHINE secured a grant in 2022 to develop a documentary film about this rare disease. This video offers a glimpse into the lives of families by families affected by DLG4 SHINE. Learn characteristics of the disease and how fundraising and current research initiatives can help those affected.