Ethan is the youngest of four siblings.

Prenatally, he was diagnosed with hydronephrosis and ventriculomegaly. Born after his due date, he developed moderate to severe infant jaundice and spent his first week in the NICU. Shortly after discharge, he began having seizures and was airlifted to an out-of-state hospital, where he was diagnosed with focal seizures and started on anti-seizure medication. Due to silent aspiration, he received a G-tube and underwent a supraglottoplasty to assist with breathing and swallowing. He missed several milestones and began physical, occupational, and speech/feeding therapies.

At just 14 months old, he had a status seizure. Respiratory viruses and fevers trigger his seizures and asthma, often leading to hospitalizations. His epilepsy is medication resistant and he continues to have breakthrough seizures. His focal seizures sometimes originated from opposite sides of his brain, making him an unsuitable candidate for epilepsy surgery. We continued to seek a diagnosis in hopes of better controlling the seizures, and whole-genome sequencing (WGS) revealed ReNU Syndrome shortly before his third birthday.

Aside from these challenges, Ethan is generally a happy child. He loves water and bubbles, as well as musical and light-up toys. He has the best giggles. He sat at 18 months and crawled at 2. He enjoys spinning, swinging, and hanging upside down. Although he is not as big of an eater after starting the keto diet, he enjoys salmon and asparagus—before keto, it was Cheerios and bananas.

Along the way, we have received help from family members, friends, our parish family, and parents of medically complex children. We have also benefited from The Little Light House in Tulsa, NAPA Center Austin, Ronald McDonald Houses, numerous specialists at multiple hospital systems, and online organizations including Baby Navigator/Autism Navigator through Florida State University, NODCC, DEEP, CVI Now, CVI Scotland, Seedlings, and Danny Did. Additionally, we have utilized state-specific resources such as SoonerStart, TEFRA, OK Abletech, the AIM Center, and Ambucs of the Great Plains.

Now, we are part of ReNU Syndrome United and its corresponding parent Facebook group.

The diagnosis of ReNU Syndrome has provided a community of shared experiences, validating the challenges we have faced. It offers hope—glimpses of what our child might achieve, hope for recognition in medical and support systems, and hope for more tailored therapies, treatments, and care.