Meet Charlie: 2022 Family Advocacy Day Champion

Charlie is participating in Speak Now for Kids Family Advocacy Day from June 12-14. Through this event, Charlie and his family will discuss his health journey, ChildServe’s role in providing him with necessary health care services, and why the public and our elected officials must invest in the future of patients like Charlie.

Charlie was born at Highland Park Hospital in Chicago. At just six days old, during his first pediatric check-up, doctors discovered he was hypothermic. He was sent to the ER where a spinal tap revealed he had sepsis and suspected bacterial meningitis. He spent the next 30 days in the hospital.

Growth and development were a struggle for Charlie. He was diagnosed with failure to thrive and oral motor dysphasia, a pediatric feeding and swallowing disorder. The family began working with a gastroenterologist, nutritionist and pediatric feeding therapist, and he’s gone from the 10th percentile for weight to the 50th.

Charlie was also diagnosed with a variant of uncertain significance (VUS), a relatively unknown genetic condition, on his SYNE 1 gene – a genetic condition that impacts every facet of his life. The SYNE 1 gene tells the brain to make the protein muscles need to coordinate body movements; Charlie’s VUS is in a low bandwidth which means it is not degenerative or pathogenic. 

“Because this is inherited from the father’s side, doctors rely on family history when making clinical decisions,” says Nancy. “Sadly, our family history is limited so Charlie is a bit of an enigma. We don’t know if it was sepsis and bacterial meningitis or his VUS that created his developmental delays, poor muscle tone and mobility challenges. We believe it is a combination of both as he has deficits in every area of his life.”

Charlie and his family moved to Iowa, and he began seeing Dr. Matsumoto, a pediatric neurologist at the University of Iowa Stead Family Children's Hospital. Charlie is non-verbal and has a history of stimming—making repetitive or unusual movements or noises—which sometimes mimic seizures. After one distressing episode, Dr. Matsumoto ordered an EEG and video electroencephalogram. The tests revealed that Charlie has seizure tendency brain activity, but it ruled out the possibility of epilepsy or other seizure disorders

“His diagnosis was extremely difficult. In addition to dealing with feelings of grief, loss and inadequacy, we began an exhaustive schedule of wellness checks, and hospitalizations that resulted in isolation,” says Nancy. “We continually sought out more support as we felt overwhelmed and unprepared as parents.”

Today Charlie is a happy 6-and-a-half-year-old. He is on the cusp of independent ambulation and likes riding on his adaptive bike.  He is nonverbal, but uses eye gaze, gestures, word approximations, signs and a communication device to express himself. 

With support from ChildServe, where Charlie receives specialty healthcare services, and the Iowa Pediatric Healthcare Collaborative, comprised of Blank Children’s Hospital, ChildServe, MercyOne Children’s Hospital and the University of Iowa Stead Family Children’s Hospital, Charlie is making strides that enable him to reach his full potential. 

“A potential only limited by the ability to access services within the complex privatized Medicaid system,” says Nancy.