DLG4 Synaptopathy - SHINE Syndrome

04/20/2026

Meet today's beautiful SHINEing Star Annike who has very refined taste is food, music and activities!!
Read more about Annike and her peers on our website at https://www.dlg4shine.org/rare-stars



Image description: A blond teenage girl is smiling over her shoulder at the camera.
Text Reads: Favourite foods: Sushi; Favourite activities: Singing and Horseback Riding; Favourite Singer: Leah and Sophia; Favourite people: Her best friend Tamara; Biggest challenges: her complex diagnosis (Developmental delay, intellectual disability, autism spectrum, ADHD, sensory processing difficulties, anxiety, muscle weakness (hypotonia), scoliosis, epilepsy).

04/10/2026

Our 2025 Annual Impact Report is here!

Check it out to get a glimpse of the highlights from last year and what we’re working toward for the DLG4 SHINE community.

We're very proud and thankful for the achievements and growth seen last year and determined to continue to build on them to reach new heights.

You can read the full report on our website athttps://www.dlg4shine.org/_files/ugd/46c7f2_583dd0829b3d4900a9f088611f96715a.pdf

03/30/2026

Meet Hank, today's SHINEing star, who has great taste! Who doesn't love pizza 🍕 and theme parks 🎢?
Read more about Hank and his peers at https://www.dlg4shine.org/rare-stars

Image description: A teenage boy wearing a red T-shirt and a cowboy hat is sitting and smiling at the camera.
Text reads: Favourite foods: Spagetti O’s and Pizza; Favourite activities: Swimming, Video games, Board games and visiting theme parks; Favourite TV Shows: Bob’s Burgers; Favourite people: Mom, Dad and Sister; Biggest challenges: Anxiety, overwhelmed by noise, making friends, going to and staying in school. Hank, Age 12, Utah, USA

03/26/2026

Today is Purple Day, a day of awareness for people living with epilepsy.
Please join us in making your feed, your clothes, and your hearts purple 💜

We send courage and love to all the DLG4 SHINE families, all the other genetic rare disease families, and every human whose daily life is impacted by this devastating and unpredictable disease!

03/20/2026

Becky Quick is a rare disease mom who also happens to be a television anchor for a large network. She used that platform to create awareness about why research and potential treatment options are so crucial for rare disease families.

If you missed it, the entire episode can be found at https://www.cnbc.com/video/2026/03/20/how-families-are-defying-rare-disease-cnbc-full-documentary.html

Hosted by Becky Quick, CNBC will debut an in-depth, one-hour special, “CNBC Cures: Defying Rare Disease,” spotlighting the families dealing with rare diseases and the scientists, advocates, and innovators fighting to change their futures. 'CNBC Cures: Defying Rare Disease' will air on Thursday, ...

03/16/2026

Let's all say "bom dia" to stylish Isabelle who is today's DLG4 SHINE Star from Brazil.
You can read more about many DLG4 SHINEing Stars on our website at https://www.dlg4shine.org/rare-stars

Image description: a young girl stands outdoors. She's wearing pink sunglasses, a pink shirt with a cat and heart and a long braid, and smiling.
Text Reads: Favourite foods: Beets; Favourite activities: Painting; Favourite TV Shows: Any and all cartoon; Favourite people: Her best friend Barbara; Biggest challenges: Rigidity, anxiety, and not being able to read and write. Isabelle, Age 10, Brazil.

02/28/2026

Being one in a million can be quite isolating.
Today, Rare Disease Day, we celebrate each of the “one a million” Rare Disease patients around the world.
Listen to DLG4 SHINE parents sharing the importance of finding a sense of community.

02/27/2026

Here is our why - our DLG4 SHINEing Stars ✨
These sweet, happy faces are the reason behind the advocacy and the fuel behind the fire.

02/26/2026

Where in the world is DLG4 SHINE? Everywhere!
We are in contact with 254 patients in 33 countries.
But there is little doubt that there are many more in many more places.
Help us reach them by sharing this post!

02/25/2026

Awareness isn’t just visibility—it’s impact.

Because DLG4 SHINE is so rare, every share helps us:
• Reach undiagnosed families
• Connect with global researchers
• Strengthen our data and community
• Build momentum for future treatments

Your voice expands our reach.
Your share creates connection.
Your support fuels hope.

Help us close out Rare Disease Month with a wave of awareness.

02/23/2026

We're thrilled to congratulate Dr Amanda Levy on successfully defending her PhD thesis this past Friday.
This monumental milestone marks the culmination of years of hard work and dedication and we are extremely thankful that DLG4 SHINE was the focus of this impactful research.

02/21/2026

You don’t need a medical degree to make a difference.

Here’s how anyone can support DLG4 SHINE families:
• Share awareness posts
• Start a fundraiser
• Invite your workplace or school to participate
• Connect us with researchers or clinicians
• Learn and spread the word

Every action—big or small—helps build a future where families have answers, treatments, and hope.

Share this to inspire someone else to take action.