Noah is the oldest of the three little men in our family. For the first two years of life he seemed to meet developmental milestones, had an amazing vocabulary and was great at most everything. However, shortly after he turned three it was becoming apparent that certain things were not as they should be. Noah was evaluated and found to be significantly globally delayed though he had many splinter skills at that time which made him look quite typical in many ways. He started physical therapy, occupational therapy, speech language therapy, vision therapy and special education services. We also started our search for answers.

Just before Noah’s fifth birthday, he had his first EEG which revealed that he has an epileptic encephalopathy and that his brain was randomly discharging every 2-3 seconds during the day and even more at night. He was also having focal seizures which have since progressed from absence seizures only, to a combination of absence (staring episodes), atonic (drop seizures) gelastic (laughing) seizures and fear auras. Over the next two years Noah trialed several anti-epileptic drugs to mediate the abnormal brain activity with limited success. The medications have gotten control of some of his focal seizures and much of his brain’s daytime spiking. Unfortunately, the removal of the daytime spikes and focal seizures did not result in significantly improved cognitive functioning.

When Noah was seven, he suffered a huge regression of his cognitive abilities, language, motor control and behavior. At that time, he was diagnosed with Electrical Status Epilepticus in Slow wave sleep (ESES), a rare form of epilepsy characterized by neurocognitive regression, epilepsy and near continuous spiking during sleep. Since that time, he has been in and out of the hospital for testing and treatments with no real success. While searching for answers, Noah underwent a full exome sequencing which revealed Noah has the DLG4 mutation. The discovery led us to the other SHINE families. When we heard the traits associated with SHINE syndrome, we were surprised at how perfectly they describe Noah and the complications he faces in life.

From day to day Noah’s skills can be better or worse. He is described by teachers as consistently inconsistent. His language and skills come and go depending on his brain activity. Currently, Noah has severe proprioception and introception issues making it a struggle to walk properly, sit down, ascend/descend stairs, dress himself or independently use the bathroom. He often gets frustrated because his body does not do what he is telling it to. He also gets nervous when things are different or he perceives that they might be difficult for him.

All that considered, he’s generally a happy kid. He loves cuddling, watching movies, hanging out with his brothers, music, jumping in his trampoline and listening to books. Despite the frustrations of his daily life Noah’s fun-loving personality shines through along with a ridiculous sense of humor and a beaming smile.