Emily is a loving verbal 10 year old. I knew within a few weeks that something was off with our precious little one. She seemed to have sensory issues right away. She couldn’t sit up on her own and was delayed in most areas. Early on we thought she was color blind because she could not learn her colors. She eventually learned her colors but was always behind her peers. She would learn something and then seem to forget it. She started PT and OT at age 2 for poor gross and fine motor skills. She couldn’t jump, but eventually learned to. She couldn’t dress herself, but also learned how. Still working on bathing independently. She was diagnosed with a mild intellectual disability and ADHD. She had an MRI, which showed nothing and Neurology and physical medicine said they didn’t need to see her back and referred us to behavioral. She has always slept good unlike many others in the community.

We opted for round two of genetic testing and the door opened. Everything suddenly made sense. She was diagnosed in 2019 with Shine Syndrome. Specifically, de nova dlg4 mutation, ESES, ID, dyspraxia, scoliosis, and hypotonia. The scoliosis would not have been picked up without my geneticist getting her checked due to what he read on the one available DLG4 paper. None of the previous doctors detected it. This process has taught be to be an advocate and push the system. The Facebook group made such an impact on our family. We requested she be tested for ESES and found her spikes were at 95%. With treatment, she is now at 12%. After starting the seizure medicine she learned to read and her reading scores continue to increase at an astounding rate. She is in general education and is pulled out for PT, OT, speech, and general intervention. Her math skills are at the 1st grade level and she struggles enormously with writing and drawing. She can type with one finger and is learning to spell better.

Emily does well socially and is blessed with kind children that help and treat her respectfully for the most part. SHINE impacts the whole family. Her older brother struggles with jealousy and sometimes tires of being helpful and understanding. She is unable to ride a bike but loves to swing and be outside. Her favorite things include dancing, watching movies, and playing with Barbies. After a recent trip to Disney World, I asked what her favorite part of the trip was. Her response? “Spending time with you guys.”. She is a ray of sunshine and only wants acceptance and inclusion. She struggles with her temper and throws screaming fits often. Mostly out of frustration when she can not find something or use something like a remote control properly. She has always hated using the restroom and had accidents through 2nd grade. She knows she is different but has confidence. She is able to calm herself out of frustration by taking deep breaths. At this point, I don’t think Emily will ever drive a car. Besides that, I think only time will tell what the future holds for her. She is relentlessly fierce. Even on her worst days she does not give up. She wipes the tears away and keeps trying. To date, she has not had a visible or reported seizure. She does mix things up often. Her concept of time has improved but still off. Meaning, she will refer to yesterday , when it was something that happened last week /month and vice versa. She chokes sometimes but has no dietary restrictions. She needs reminded to take smaller bites and slow down. She left her group during summer camp and jumped into the deep end of a pool. She can not swim and luckily the lifeguard got her. She typically doesn’t attempt to wonder off but she did also leave the house once without our knowledge. She knew this was unacceptable and unsafe. I am sharing this because both of the last incidents surprised me. I would never have thought she would do either but they happened. Both at age 9. She has a loving and supportive family. Most importantly she is generally a very happy girl. She loves her new puppy and was a bit rough with him at first but she has adapted just fine. She is extremely affectionate and caring and SHINES like the rest of this beautiful community. Mom has anxiety from navigating this special needs world. There has been lots of worrying whether I am pushing too hard or not hard enough, limiting activities too much or not enough, dreading seizures, prepping for an unknown future, etc. We look forward to continued support from the SHINE community. Blessings to all of you. Together we will make a difference.