In many ways, two-year-old Myles Dunn is a normal and healthy toddler, ever busy finding his place in the world. As the middle of three young children, his sisters, Dylan (4) and Blakely (1), offer continuous opportunities for him to learn all the normal skills and behaviors of being a little brother, big brother, son, and friend.
Along the way, parents Jaime and Michael Dunn reached a point of instinct based on the age-old maxim of “children develop at their own pace” that brought the Dunn household to an unexpected twist. In November 2023, after months of doctors’ visits, therapies, and other head-scratching observations related to Myles’ delayed gross motor, fine motor, and speech development, a diagnosis was reached. As diligent parents, their persistence in better understanding the root causes of Myles’ development led them to new frontier in life’s challenges.
Myles became the 141st known case in the world of SHINE Syndrome, also known as DLG4 Synaptopathy, an ultra-rare neurodevelopmental disorder. SHINE Syndrome prevents the brain from accurately converting basic messages into their intended responses, resulting in impaired motor skills, increased stress reactivity, and other unpleasant conditions, including seizures. This disease also can cause development regression beyond the skills the child has developed.
SHINE Syndrome is caused by variants/mutations in the DLG4 gene. The DLG4 gene is found on the 17th chromosome and is an important gene that encodes the protein PSD-95, which plays a major role in brain development and function through its implications in synaptic strength and plasticity. These mechanisms, along with PSD-95’s role in organizing and interacting with other proteins, represent a gene with many capabilities of which, when altered, can induce susceptibility to SHINE Syndrome.
In this case, SHINE Syndrome serves a chronic cap on Myles’ ability to flourish while the family possesses a menacing uncertainty of how his future may unfold.
As with most genetic disorders, each case is different and symptoms, catalysts, and overall conditions vary. Following delays in achieving some of his two-year-old developmental milestones, genetic test results revealed this scarcely known disease. As a de novo case, his parents do not possess this disease and believe his diagnosis amounts to “sheer bad luck.”
Dad, Michael, proclaimed, “Myles’ superpower is his happiness for life and intrinsic ability to interact with all kinds of people. I’ll never forget when the photographer taking his newborn pictures said, ‘I’ve never seen a two-week-old smile so much.’”
Mother, Jaime, added, “Candidly, I didn’t think much of it at the time, but now I remember the day that his smile became his trademark. We are grateful for the outpouring of support we’ve received since sharing Myles’ news publicly.”
Michael concluded, “We are also forever thankful for Myles’ physical therapists giving us honest feedback, his primary care physician for ordering the right ‘next-best’ actions – one of which was his neurologist that thought to authorize what ended up being the precise genetic test he needed, and the close-knit DLG4 support group of families affected by this disease. Given the novelty of this disease, I’m confident this disorder exists in a rather large number of people, some of which may be further along in life but have spent years trying to understand their condition.”
As a guidepost, the Dunns perform two things Myles’ neurologist prescribed: support his progress and become experts in this ultra-rare disease by integrating and connecting everyone and everywhere possible, proclaiming, “There is no time to sit on the sidelines and let somebody else search for a cure.”
Jaime summarized, “If, over the next few years, we can learn more about it and ultimately find a cure, we can’t think of a better and broader way than to help unite medicine, technology, and community around children in need.”
Ultimately, the Dunns’ advice is pretty simple … “Be active in your children’s lives, listen to doctors, but always be vigilant and listen to your parental instincts when something just doesn’t add up.”
Donations to the DLG4 Research Fund on behalf of Myles and this growing community can be made at: secure.givelively.org/teams/dlg4-research-fund/help-us-fund-a-gene-therapy-treatment-option-for-patients-with-dlg4/myles-s-fundraiser.