Baby Rosalyn was 6 months old and still wearing newborn clothing. Her parents, Stacey Sarafinko and Brandon Lewis, grew increasingly worried and after each visit to the doctor, they also grew incredibly frustrated.
“She was growing normally up to about 4 months, and then she just plateaued,” Stacey explains.
“We had just about every test that they could have done but they weren’t ever able to find anything,” Brandon adds.
Their primary care physician referred the couple to Geisinger where Rosalyn was eventually seen by doctors in the Whole Genome Sequencing program. It was there that Rosalyn’s growing mystery was solved.
Due to a gene mutation, Rosalyn was diagnosed with Cornelia de Lange syndrome, a rare genetic disorder characterized by slow growth before and after birth. The agonizing search to identify what was causing Rosalyn’s stunted growth was over.
“We faced a lot of scary possibilities and Cornelia de Lange was actually our best hope,” Stacey says. “Once it was identified, we’ve been able to provide early intervention that includes lots of different specialty services.”
Today, Rosalyn loves to play. Mom, dad and big brother Benjamin are watching out for her every step of the way.
“Apart from not growing quickly enough, she’s perfect,” Brandon says. #GeisingerStories