“Our decision to get testing done through the Clinic’s Plain Insight Panel™ (PIP) was the right decision for our family,” reflect Justus and Ruth Stauffer. While their initial motivation for testing was to find answers for their first son, Brandon, the information they gained from the PIP ultimately helped guide care decisions for their later sons, Darren and Nolan.

The PIP test, developed and offered through our on-site laboratory, screens people from the Plain community (Amish and Mennonite individuals) for more than 1,400 genetic changes known or suspected to cause disease. For many of the genetic disorders we see at the Clinic, a child is only at risk of having a condition if both parents are carriers for the same disorder. Justus and Ruth’s results showed that they were both carriers for two genetic conditions: an immune disorder called IL7R-related severe combined immunodeficiency (SCID) and a disorder called FLVCR1-related Posterior Column Ataxia with Retinitis (PCARP), which can cause vision loss and difficulty with balance and coordination.

This information not only gave the family answers about Brandon, who was diagnosed with PCARP, but also helped them understand that their future children could inherit one or both of these disorders. While expecting their second child, Darren, the Stauffers attended a SCID Family Day hosted by the Clinic, where they met other families and specialists from Children’s Hospital of Philadelphia (CHOP). When Darren was born, he was diagnosed with SCID the same day through rapid genetic testing performed by our on-site laboratory. This allowed the family to quickly begin the care and treatment they needed through the Clinic and CHOP.

“After our experiences with both Brandon and Darren, we decided to get answers even earlier when expecting our third child, Nolan. We had an amniocentesis during pregnancy so we could have a diagnosis before he was born. We were able to plan even further ahead, especially knowing how much stress is involved when your baby has SCID, with things like isolation and hospital visits,” shares Ruth.

When an amniocentesis showed that Nolan also had SCID, the Stauffer family was relieved to have answers before he was born and to begin planning for his treatment early. SCID is often treated with a bone marrow transplant, which requires finding a suitable donor. Because Nolan was diagnosed before birth, the Stauffers were able to begin the donor search early, giving them more time to prepare for his treatment and care.

“The PIP gives you the key to unlock early care. It sets the stage for your family to potentially save thousands of dollars and, most importantly, could help save your child’s life,” share Justus and Ruth. “The Clinic has been critical in connecting us with the specialists we need and coordinating our family’s care. The collaboration between the Clinic and CHOP has been seamless, and we are deeply grateful.”

Today, Brandon, Darren, and Nolan are all doing well and are active boys. The older brothers love riding their bikes and playing together. “What is most important to us is that our boys enjoy life as much as possible.”