DLG4 Synaptopathy - SHINE Syndrome

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.

02/19/2026

✨ Your annual updates to Simons Searchlight help researchers understand how DLG4/SHINE Syndrome evolves over time, benefiting families like yours. We regularly add new surveys to the study, and some are repeated each year, including a follow-up medical history survey. By sharing your journey annually, you support future research and inspire hope in others.

We encourage you to continue your journey with Simons Searchlight and join our growing community. Together, we can uncover new insights and foster hope for the future.

Visit your dashboard to share updates and complete surveys: http://bit.ly/Simons_Searchlight_Dashboard

02/17/2026

✨ By donating an optional blood sample, you can create invaluable research resources for DLG4/SHINE Syndrome, including DNA and cell lines.
This simple, one-time step can greatly impact global research efforts. Your de-identified sample will be available to approved SFARI researchers. If you prefer not to donate, you can still contribute through surveys.

Ready to donate? Email us at Coordinator@SimonsSearchlight.org, and they’ll get your kit to you ASAP!

At this time, blood donation is only available to families in the U.S., but Simons Searchlight is actively exploring ways to expand international options. If you’re a non-U.S. family and have questions about blood donation, they welcome you to reach out to them at Coordinator@SimonsSearchlight.org—they’d be happy to discuss possibilities with you.

Learn more about how your blood samples support important research worldwide: https://bit.ly/Searchlight_Data_Biospecimens.

02/15/2026

Behind every rare disease diagnosis is a family learning, adapting, and advocating with incredible strength.

Families affected by DLG4 SHINE show us what resilience looks like—celebrating milestones, navigating challenges, and building community with others who understand.

This Rare Disease Month, honor their journey by sharing their story forward.
Awareness is an act of love.