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 evaluated by Dr. Andrea Seeley, a clinical geneticist. Dr. Seeley suspected the diagnosis of Cornelia de Lange syndrome (CdLS) a rare genetic disorder characterized by slow growth before and after birth. However, clinical testing for CdLS was negative. 

Dr. Seeley referred Rosalyn to the Genomic Medicine Institute’s (GMI) Whole Genome Sequencing (WGS) program, led by Dr. Marc Williams, a clinical geneticist and researcher, and Janet Williams, a licensed genetic counselor. 

Patients with complex, undiagnosed medical conditions have been referred to GMI’s WGS program to participate in a program designed to end the diagnostic odyssey by helping to diagnose the condition and improve their healthcare.

It was at GMI that Rosalyn’s growing mystery was solved— Rosalyn had CdLS. The agonizing search to identify what was causing Rosalyn’s stunted growth was over. 

WGS detected a change in the HDAC8 gene that was not able to be seen using standard testing methods. Dr. Williams notes that Rosalyn’s case and others like hers have confirmed the value of using the new techniques of next generation sequencing to solve these clinical puzzles. 

“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.” 

Dr. Williams said, “Geneticists are familiar with the medical and developmental issues that can be seen in CdLS. We have recommendations for care that are specific for the condition and help us to anticipate and hopefully avoid issues that could develop in the future. It helps us to personalize the care for Rosalyn.”

Janet Williams notes that making a diagnosis helps answer questions from the family about whether this could happen with another child or affect other family members. It also helps with the guilt parents sometimes experience that something they did or didn’t do could have caused Rosalyn’s problems. 

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.

May 13 is National Cornelia de Lange Awareness Day. For more information on CdLS, visit http://www.cdlsusa.org/index.htm 

For more information about Geisinger’s Whole Genome Sequencing program, visit our Whole Genome Sequencing page.

Inquiries: Contact David Stellfox, Research Communications Lead, dbstellfox@geisinger.edu 

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