As we have always known our sweet Kynlee is so special and turns out, she is an extremely RARE special little girl. After years of trying to find answers my niece  Kynlee was finally referred to a Genetics Specialist in Seattle.The findings were right Kynlee is so very special and truly is one of a kind she has a very RARE genetic brain disorder called DLG4 Synaptopathy (also known as Shine Syndrome) So rare that there are less than 125 people in the whole world with this diagnosed and currently and only 6 with her unique variant. DLG4 Synaptopathy is a mutation of her 17th chromosome. This gene produces the protein PSD-95 that helps the brain function the way it should. Simply put, her gene did not produce enough. 

This is the cause of her global developmental delay, autism spectrum disorder, ADHD, sleep disturbances and anxiety that we know of so far. This syndrome also is known to experience Epilepsy, hypotonia and several the other neurological issues.  

Kynlee had been referred to Seattle Childrens Hospital Neurology and will be getting an EEG, along with many other test. Other kids with this diagnoses experience, brain spikes, or currently have epileptic seizures which can cause regression. So this is our priority to get testing completed and get Kynlee the right care.

This has been a bit of a shock and pretty emotional for all of us as there is just so much unknown. Every question leads to more questions. There currently is no treatment for this diagnosis. This disorder is a pretty new finding and so rare that a lot of doctors don’t even know about it. So it leaves the questions about what Kynlee’s future will look like. 

Josh, Jamie, Kynlee along with Ella and Jaira have a long road ahead of them and need all the love and support we can give them!

Kynlee will be traveling to Seattle for Doctors appointments. Also a trip to San Diego is planned. Here is where they are working on research at The University of California San Diego to study this rare diagnosis. Kynlee will be doing blood draws and skin samples to help create stem cells to create viral Gene Therapy. She has also been invited to go to Children’s Hospital of Philadelphia at some point for more research so she can help other children just like her.