Say Hello to Nolan

Nolan is the third child in our family. He seemed like he was developing fairly normally, however, by the time he was two, there was a more noticeable difference in his language and cognition when around same-age peers. We saw many doctors in various specialties and went through a battery of medical diagnostics and neuropsychological exams; during this time, we never got any formal diagnoses but did rule a lot of things out. We kept hearing “give him a few more months to develop” from physicians.

During this time, Nolan was enrolled in early intervention services through our county, as well as speech and occupational therapy at our local hospital. At the age of four, he had his first 24-hour EEG and was quickly diagnosed with epilepsy, specifically ESES; ESES (electrical status epilepticus during slow-wave sleep) is a rare epileptic encephalopathy that causes near-constant spikes while sleeping and negatively impacts neurodevelopment. We also discovered Nolan was having clinical seizures during sleep. Epilepsy has been the biggest struggle for our family, as Nolan’s seizures have been medication-resistant despite trying over 10 different anti-seizure medications, IVIG, the ketogenic diet, and a Vagus Nerve Stimulator. In October 2021, he was one of the youngest patients in the United States to have a Deep Brain Stimulator (DBS) implanted as an epilepsy treatment. Nolan was partnered with Nerys, his service dog in 2018 who is trained in seizure alert, tethering, tracking, and behavior disruption. In addition to epilepsy, Nolan also faces challenges with motor coordination, receptive and expressive language, and sleep.

We found out Nolan had a DLG4 mutation originally when he was four years old through an intellectual disability panel. At the time, it was labeled as unknown significance. Two years later, we found out that the gene was disease-causing. Connecting with other families who share our challenges has been amazing. When you have a child that is very rare, it helps to know there are other families going through similar difficulties, even if you’ve never met them in person!

Although Nolan faces many obstacles, he also brings a lot of joy to our lives. He loves Lego Star Wars, swimming, and swinging. He gives the best hugs and snuggles. He has also taught our family and friends so much about inclusion, acceptance, and what really matters in life. Thanks for learning about Nolan and our family!