Walking a Journey The Hurst Family

When Zach and Rachel Hurst’s first child Abigail (Abby) started to miss developmental milestones, they became concerned. “When Abby was several months old, she began to scream during car rides and had a hard time supporting herself in a sitting position,” explained Rachel. “We started trying to find an answer and visited many doctors who said she was just delayed, that we should push her with physical therapy, there was nothing to worry about, etc.”

For over a year, the Hurst family continued to visit with various practitioners with the hopes of finding an answer. During a hospital visit when Abby was 14 months old, MRI results revealed a concern for pontocerebellar hypoplasia. The family was quickly referred to the Clinic for Special Children – the first time the Hurst family had heard about our clinic in Lancaster County.

During Abby’s first visit to the Clinic, our clinical and laboratory teams confirmed that Abby was born with a genetic change in the TSEN54 gene, which is known to cause pontocerebellar hypoplasia in the Mennonite community. The carrier frequency in the Mennonite community for this specific disorder is 2.3% with an estimated incidence of 1 in 7,600 babies. Children with TSEN54-related pontocerebellar hypoplasia usually have a small head size, developmental delay, and involuntary movements. As the disease progresses, children start to have sleep issues, feeding problems, and seizures. Unfortunately, there is no cure – children typically succumb to the disease by 10 years of age.

At first, Abby primarily came to the Clinic for check-ups. The Hurst family noticed a difference in Abby’s care right away. “Before we were referred to the Clinic, we felt like many doctors didn’t listen to what we had to say. We didn’t feel listened to. The Clinic is completely different. Every person we see when we visit, no matter who we’re interacting with, talks to Abby and treats her like a typical kid. Everyone cares about her,” shares Zach.

Abby recently started to experience more seizures, and the family is currently working with Dr. Vincent Carson on a medication protocol to control her seizures. “At each visit, Dr. Carson sits down and asks us, the parents, about what’s going on and the challenges we’re facing. Dr. Carson listens to our goals for Abby and gives us options for her care,” says Zach.

Today Abby is three years old and loves her little sister, Joanna. Rachel enjoys taking Abby to play with her cousins, taking her on adventures, and caring for her every day.

“Walking this journey alone would be very lonely. We’re blessed to have a great support system of family, friends, and the Clinic,” shares the Hurst family. “We feel like we aren’t walking this journey alone with the Clinic by our side. We can meet other families from the Clinic who are going through similar challenges as us. Through our faith, we can take each day at a time and are given strength.”