DLG4 Synaptopathy - SHINE Syndrome

07/28/2025

Today's SHINEing star is handsome Yomar who looks great in a suit and has impeccable taste in every category: music and sports, dogs and cars, his siblings and potatoes!
You can read about other SHINEing star at https://www.dlg4shine.org/rare-stars

Image description: A young man in a dark suit and green tie is sitting on a bench under a palm tree and smiling.
Text reads: DLG4 SHINEing Star; Favourite foods: Mashed potatoes; Favourite activities: Listening to music, soccer and football; Favourite Things: Dogs and cars; Favourite people: His siblings; Biggest challenges: Struggles with academics and independence, also terrified of birds; Yomar, Age 18; Florida, USA.

07/23/2025

As our community continues to grow, we wanted to provide an updated count of known DLG4 SHINE diagnoses by country.

07/17/2025

Today, July 17, is DLG4 SHINE DAY!

What better way for us to celebrate than by being together - in person and virtually - to hear from researchers about ongoing research, ask questions and discuss our children with them, and to bond together as families.

07/11/2025

One of our families conducted a Spring Cleaning Drive to raise funds to support the foundation's mission. In total, they raised $1,154.00.

We realize it was a lot of work and we appreciate your commitment to finding creative ways to fundraise. Thank you for your efforts!

07/09/2025

We look forward to welcoming these researchers at our conference next week and hearing about their research on the PSD-95 protein and DLG4 SHINE Syndrome.

Learn more about our all-star researcher line-up at https://www.dlg4shine.org/conference-speakers

Don’t miss out on hearing first-hand and asking questions! Virtual registration is still available at
https://www.dlg4shine.org/event-details/2025-dlg4-shine-scientific-family-conference-1/ticket-form

07/03/2025

We’re so grateful to Simons Searchlight for supporting our first-ever DLG4 SHINE Scientifc Research & Family Conference!

With your help, we’re building something truly special — a day where families can connect with researchers, share stories, and feel supported. Your generosity is helping bring this vision to life.

Thank you for being a part of this journey with us!

07/02/2025

Whether you’re a direct caregiver, extended family member, friend, teacher, therapist, clinician, researcher, and the list goes on: Every Voice Matters.

If you’re located within the United States, please urge your representatives to vote “NO” against this bill.

📣Senate Passes H.R. 1 — It Is Time to Activate

Despite strong advocacy, it was with deep disappointment that we watched as the Senate passed the budget reconciliation bill, H.R. 1. Many within the rare disease community rely on Medicaid for vital healthcare services who will be harmed through this legislation. But the law has not passed. This is a critical inflection point for our community.

What Happens Next?
The House still needs to pass this legislation before it is sent to the President’s desk for his signature. This is the moment to connect with our elected Representatives.

Our Rare Disease Community Must Again Activate

➡️ Take Action Here: https://lnkd.in/evMVmKge

➡️ Learn More: https://bit.ly/4knxpAJ

Together, we can ensure Congress understands that Medicaid is a lifeline for the 11.8 million Americans at risk of losing health coverage – most especially our rare disease community.

06/27/2025

We are incredibly grateful to EveryLife Foundation for Rare Diseases for their generous sponsorship of our inaugural event for DLG4 SHINE researchers, and patients and their families.

Your commitment to making a real difference in the lives of those facing rare and often overlooked conditions is inspiring. Thanks to your support, we were able to bring together patients, families, and advocates to share stories, build community, and spark hope.

Thank you for standing with us in this vital mission. Here's to continued impact and partnership.

06/20/2025

The first ever DLG4 SHINE Conference is less than 4 weeks away!

You still have time to register for virtual attendance and join us remotely to hear the experts in real-time and ask them your questions via live chat during the Q&A sessions, and participate in the community roundtable focused on your needs and goals.

Confirmed speakers are coming from all over the USA as well as Canada, Denmark and Israel. Don’t miss your chance to hear them and learn about their amazing research efforts.
We have lowered the virtual attendance price back down to the early bird price of $65!
For all details and to register, visit our website at https://www.dlg4shine.org/conference and click the Register Now button.

06/16/2025

Protect Medicaid for the Rare Disease Community!

A bill moving through Congress threatens to cut vital Medicaid funding — putting care and services at risk for people living with rare diseases.

As a DLG4 SHINE parent, family member, or advocate, your voice matters. Contact your U.S. Senators today and urge them to REJECT harmful Medicaid policies that would limit access to the care our loved ones depend on.

Find out how you can help make sure they hear us loud and clear: Don’t cut Medicaid. Protect our rare disease families.

https://www.dlg4shine.org/homepage-announcements/action-alert---medicaid-cuts

EveryLife Foundation for Rare Diseases
everylifeorg

06/15/2025

Happy Father’s Day to the dads, grandfathers, caregivers, and father figures in our rare disease community and beyond.

Today, we celebrate the strength you show, the protection you offer, and the steady support you provide. In the face of rare disease, you bring determination, love, and fierce loyalty.
Your role may not always be in the spotlight, but your impact is undeniable. Thank you for your courage, your advocacy, and the sacrifices you make without hesitation.

Wishing you a Father’s Day filled with respect, gratitude, and moments of peace. You are a pillar in your family and in our community.

05/27/2025

Our SHINEing Star today is the adorable Jordan who has an impeccable sense of style!!
You can read more about her and her peers on our website at https://www.dlg4shine.org/rare-stars

Image description: A little girl wearing all pink stand outside a house. She's wearing a bow, sunglasses a big bagpack and has a big smile.
Text reads: DLG4 SHINEiing Star; Favourite foods: cupcakes; Favourite activities: playing with her best friend at school; Favourite Things: Minnie Mouse toys; Favourite people: Her sisters; Biggest challenges: learning new things; Jordan, age 5, Colorado, USA