SHINE Syndrome Foundation

Our mission is to improve the quality of life for children and families impacted by SHINE Syndrome through supporting collaborative research among international medical professionals, nurturing a family community, and raising worldwide awareness.

We’re joining forces and unifying the effort!

The DLG4 Research Fund and the SHINE Syndrome Foundation have agreed to come together under the SHINE Syndrome Foundation umbrella.

The new board will consist of:

Marie-France Gervais – Co-President
Timothy Stuart – Co-President
Justin Neduchal – Vice President and Ethics Officer
Payal Patel – Vice President of Development
Courtney Roche – Secretary
Melanie – Treasurer
Sabrina Merchant – Director of Science and Clinical Programs
Courtney Thomson – Director of Patient and Family Engagement

We are actively working on combining assets and doing our due diligence to best leverage our respective successes and working relationships.

We will soon be hosting an informal virtual Meet and Greet. Watch this space for the details.

You Found Us!
Now What?!

We are excited to welcome you the SHINE Syndrome community.  This website holds a collection of resources for patients, families and anyone curious about SHINE Syndrome.  If you’re new here, please refer to these commonly used items to get started.

Join the Cause

Fundraising for rare diseases is critical to improving understanding of the disease, raising awareness, and finding answers and treatments for affected families. Hear from one of our families below.

Visit our Take Action page to see how you can get involved, or donate via GoFundMe if you’re able.

 

What's New?

This Medical Care Considerations document was developed as a resource to assist and guide families and medical professionals caring for an individual with a DLG4-related synaptopathy diagnosis. Bring it to any doctor’s appointment to help them familiarize themselves with all the potential health concerns linked to this disorder and plan your loved one’s care.

Many SHINE patients suffer from various types of epilepsy. This recently published paper provides valuable insights to patients, medical professionals, and researchers alike.

 

Read this newsletter for exciting updates about what’s going on with the foundation, research and the community.

 

CIITIZEN Registry

SHINE patients in the U.S. now have the option to enroll with CIITIZEN, a secure digital platform for storing existing medical records.

In addition to the benefit of having all your records in one place, signing up can help advance research, inform a better understanding of DLG4, and improve clinical trial design.

To enroll, visit our sign-up link here.

Please also review the Ciitizen Research Initiative and Privacy Policy.

 

Recently, a newly diagnosed family was featured by the Fairfield Country Board of Developmental Disabilities on FaceBook.  Please take a moment to watch their story and share!

What is SHINE Syndrome?

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

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

Who is SHINE Syndrome Foundation?

Shortly after the diagnosis for DLG4 Synaptopathy was confirmed, a group of parents began working together to build a community for other newly diagnosed families, collect research, and spread awareness of the disease.  Our aim was to help new patients easily find the answers that so many struggled with during their journey.

A mere handful of years later, SHINE Syndrome Foundation is working to raise worldwide awareness, facilitate and fund research, and provide much-needed information and resources to SHINE families.

Resources for Families

For the recently diagnosed, wading through the sea of information and articles can be overwhelming.  SHINE Syndrome Foundation has compiled much of that information and worked with clinicians and researchers to present it in a more concise manner. Review the SHINE guide, SAMi partnership, or documentary below, or check out our Resources or Media pages for more information and videos.

How to SHINE

SHINE A Light On DLG4

SAMi Sleep Monitor

How Can You Help?

There are many ways to help the SHINE Syndrome community. If you’re able, please consider donating to support research and community events or purchasing merchandise to raise awareness for our small but mighty community. Visit our Take Action page to learn about other ways to get involved. 

Please have a look at our latest Annual Impact Report to see how your generous donations are being put to good use.

The contents of this site are not intended to be used as medical reference and are informational only.  If you or a loved one have recently been diagnosed with DLG4 Synaptopathy or is suspected to carry this genetic mutation, please consult with your medical physician.