Genetic testing revealed Julia has Coffin-Siris syndrome, a disease so rare that she is one of only 200 people worldwide with it.

For the first four years of Julia’s life, her parents, Laura and Matt Steigerwalt, lived with the scary uncertainty that accompanied not knowing what was causing their daughter’s complex medical and developmental problems.

“As parents, we were determined to get a diagnosis to find out what was ‘wrong’ with our daughter and to ensure we were doing everything within our power to help Julia grow and succeed,” Laura says. “We were willing to do anything necessary.”

Julia’s primary care pediatrician, Arrene Santos, MD, in the Indian Valley office of the CHOP Care Network, had identified global developmental delays. Julia had weak muscle tone, and didn’t cry much as a baby or try to reach for toys. She also had two heart problems, an abnormal heart valve and a hole in the wall that separates the top two chambers, which were being monitored by CHOP cardiologist Paul Stephens, MD.

To figure out what was behind Julia’s various conditions, the Steigerwalts turned to the Roberts Individualized Medical Genetics Center (RIMGC) at CHOP. The call with the long-awaited explanation came in the middle of a family party. Genetic counselor Livija Medne told them genetic tests had identified Coffin-Siris syndrome (CSS) as the diagnosis.

Only 200 Coffin-Siris Syndrome Cases Worldwide

“I remember my hands shaking as I tried to write that down, sitting at the dining room table with Matt looking at me, just as intent and scared as I was,” Laura says. “Livija explained everything to us and answered our questions in a calm, professional, caring and knowledgeable manner.”

Julia had an ARID1B gene mutation that was de novo, meaning it wasn’t inherited from her parents. CSS is so rare that there are only about 200 know cases in the world. Some of the characteristics of CSS that Julia had include global developmental delays, delayed milestones, intellectual disability, a shortened pinky finger and/or toe nail, and hypotonia (low tone).

A New Reality

A few days after that phone call, the family met with geneticists Matt Deardorff, MD, PhD, and Elaine Zackai, MD, and Mende at the Roberts IMGC clinic to discuss the diagnosis and next steps as Laura and Matt tried to absorb what it meant for Julia’s future. CSS is not progressive, so her conditions will not get worse, but because of her intellectual disabilities she most likely will not be able to drive a car or live on her own.

“As devastating as it was to be in that room,” Laura says, “I remember clearly the big smile on Dr. Deardorff’s face as he watched Julia dance around the room and allowed her to climb onto his lap so she could get a glimpse of herself in the mirror. He said, ‘I like her, she’s cool!’”

As that impromptu dance demonstrated, Julia was — and continues to be — a happy kid. She loves her big brother, Matthew, and playing with her friends at preschool and her iPad. With the help of physical, occupational and speech therapists, her development is improving each day.

Full Team Ahead!

In addition to the RIMGC Genetics team, she sees a group of specialists at CHOP: Neurology (for seizure-control medication), Cardiology, Ears, Nose and Throat (for ear tubes), Audiology (for hearing aids to compensate for mild hearing loss), Ophthalmology and Developmental/Behavioral Pediatrics. Through the Bucks County Intermediate Unit, Julia also has physical, occupational and speech therapy and a special instructor, personal care assistant and hearing specialist.

“Julia is the most special and precious daughter we could ask for,” Matt says. “She has taught us more about patience, acceptance and faith than we could have ever imagined. Everyone who comes in contact with her is genuinely touched by her innocence, joy and love of life — and her hugs are fantastic, too."

“We hold the highest hopes for her future; whatever brings her joy, brings us joy.”