Last year, 35-year-old Jenna Neduchal ran her first Flying Pig Marathon. This annual event serves to unite the community, create an accessible event for all, and raise funds for important causes. So this year, both Jenna and her husband Justin decided to join in. Justin isn’t much of a runner—at least, not like his wife, a high school state champion in track and field, as well as cross country. But like his wife, Justin would do anything for their son Jace (6), who has SHINE syndrome. So, shares Link NKY, the Neduchal family recently ran half-marathons as part of the 2023 Flying Pig Marathon weekend.
From Jace’s infancy, the Neduchal family knew that something was going on. Unlike other children, including older sister Jovie (7), Jace never crawled. He began therapy at six months old to help him with mobility. Even still, Jace didn’t stand independently until he was two. He was (and still is) sensitive to loud noises. In December 2021, the family finally received a diagnosis: SHINE syndrome, or DLG4-related synaptopathy. Jace was the 54th known case globally; at this point, only around 104 cases are known.
But the Neduchal family was not alone. Nate and Laura Palmer, who founded the SHINE Syndrome Foundation after their son Nolan’s diagnosis, live within an hour of the Neduchals. This year, Laura pushed Nolan through the entire marathon course and they finished together; what an accomplishment! Next year, Jenna and Justin hope that Jace can also participate in the raise or in other events like PigAbilities.
If you’d like to learn more about the SHINE Syndrome Foundation, or donate to the cause to help advance research, check out the SHINE Syndrome Foundation website.
What is SHINE Syndrome?
Given that there are only 104 known cases worldwide, the research on SHINE syndrome is still fairly slim. More research is needed so that we can best assist those affected, understand the condition, and develop adequate and effective treatments. Here’s what we know so far:
- SHINE syndrome is an ultra-rare neurodevelopmental disorder caused by DLG4 mutations on chromosome 17. While there have been rare cases where SHINE syndrome occurs in the same family, most mutations are de novo (spontaneous), which means they are not passed down from parents.
- Normally, DLG4 encodes for the production of PSD-95, a protein that helps the brain to develop and work properly.
- Symptoms and characteristics may include intellectual disabilities, global developmental delay, autism spectrum disorder (ASD), ADHD, brain and bone abnormalities, seizures, extremely low muscle tone, and problems with sleep. However, since more will most likely be discovered in the future, this is not an exhaustive list of symptoms or characteristics.