SHINE Syndrome, or DLG4-Synaptopathy, is an extremely rare condition with fewer than 75 known cases in the world.
Laura Palmer’s nine-year-old son, Nolan, is one of those cases.
Now Palmer, an eighth grade art teacher at Mason Middle School in Ohio, is doing what she can to raise awareness about this rare genetic disorder.
According to the SHINE website, it is a neurodevelopment disorder that is characterized by global developmental delay/intellectual disability of varying severity, autism spectrum disorder, attention deficit hyperactivity disorder, hypotonia, and epilepsy.
Many people with SHINE syndrome also have sleep disturbances, bone abnormalities, and/or structural brain abnormalities.
It took a very long time for Nolan to be correctly diagnosed with the syndrome after years of genetic testing and doctor appointments.
Sadly, Nolan suffers from constant seizures due to his condition, many of which happen while Nolan is sleeping. Because of this, Palmer says she hasn’t gotten a full night of sleep since Nolan was born.
Since there is no real awareness of the disease because it is so rare, Palmer and her family is fundraising for a researcher to focus and spend an entire year on the disorder, as well as trialing drugs that are already FDA approved.
The researcher will try these drugs in certain classes, on stem cell lines and bio-specimen samples from some of the SHINE patients to see if any of them are able to increase the protein that their bodies do not make.
Palmer joined WLWT to share their story and hopes it will inspire other families to help.
Here their story in the video below:Whizzco