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The DLG4 SHINE Community

In just a few short years, our community has grown to include over 50 families in 14 countries.  Below, you’ll find some personal stories from a few of those families as well as a world map including regions where our members reside.  Please enjoy this peek into our background, and reach out to us through the contact page if you’re interested in sharing your story as well! If you are a parent of someone with SHINE Syndrome or are a researcher involved with DLG4 Synaptopathy, please consider joining our private Facebook group.

Family Stories

Here are a few stories submitted from our community to give a little glimpse into the lives of those with SHINE syndrome.

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Meet Rayna

" Rayna, with all her limitations, is constantly trying her best. She strives to do everything her neurotypical sister does and never gives up. Her determination drives me to advocate for her success. The road ahead is even harder than the one I walked to find an answer, but with your help I am confident that there will be a better future for every child diagnosed with DLG4 SHINE."

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Introducing Myles

"We are so proud of how far Myles has come since his diagnosis, and we are going to continue to fight for treatments. As Myles refuses to give up on everything he does, we refuse to give up on the possibilities that lie ahead."

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Meet Liliana

"We knew from the time she started physical therapy at four months of age that there was something very special about Liliana"

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Introducing Cedric

"Very early on, we noticed that Cédric was not reaching milestones at the same pace as his peers. By 18 months old, we were able to consult a developmental therapist, a physiotherapist and a speech and language pathologist. They confirmed delays in all areas and we started therapies and a quest for a diagnosis."

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Introducing Emily

"We opted for round two of genetic testing and the door opened. Everything suddenly made sense. She was diagnosed in 2019 with Shine Syndrome. "

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Meet Izac

"The struggle for severe sleep disturbance to delayed motor skills, speech and possible ADHD, we needed more support for Izac. He was approved for a few supports, but it wasn’t enough."

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Say Hello to Nolan

"Nolan is the third child in our family. He seemed like he was developing fairly normally, however, by the time he was two, there was a more noticeable difference in his language and cognition when around same-age peers." We kept hearing 'give him a few more months to develop' from physicians."

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All About Noah

"Noah was evaluated [shortly after he turned three] and found to be significantly globally delayed though he had many splinter skills at that time which made him look quite typical in many ways. He started physical therapy, occupational therapy, speech language therapy, vision therapy and special education services. We also started our search for answers.

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Let's Welcome Harvey

"The only presenting concern at birth for Harvey was intermittent strabismus, which his physician’s assumed he would grow out of overtime. By 5 months, though, we began seeing Harvey’s first specialist, the Ophthalmologist for worsening concerns over strabismus. Little did we know that this would begin our medical journey."

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Introducing Eddie

"He continues to show us that nothing is impossible. "

DLG4 Community Map

If you are an individual with DLG4 SHINE or the parent/primary caregiver of an individual with DLG4 SHINE, we encourage you to register in our Contact Registry, and we will place you on the map! By sharing your contact information, we can communicate research and clinical trial opportunities with you, provide educational and advocacy resources, and help families connect.

Like most rare diseases, DLG4 SHINE is significantly underdiagnosed. We must identify every person in the world with a DLG4 variant and galvanize our community. The larger our population, the more leverage we have to engage biopharma and encourage investment in our disease. Please make sure you or your loved one is counted! 

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